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
KRTAP10-6	386674	broad.mit.edu	37	21	46011539	46011539	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr21:46011539G>A	uc002zfm.3	-	0	848	c.827C>T	c.(826-828)tCt>tTt	p.S276F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	276	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGAAGCCCCAGAGCAGACGGG	0.647000														156			56		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150133	34150133	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chrX:34150133G>A	uc004ddg.3	-	0	315	c.263C>T	c.(262-264)gCt>gTt	p.A88V		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	88										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						TTTGGGGTCAGCTTGGGGACC	0.542000														64			42		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6472801	6472801	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr10:6472801C>T	uc001iji.1	-	15	2119	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K	PRKCQ_uc001ijj.2_Missense_Mutation_p.E646K|PRKCQ_uc009xim.2_Missense_Mutation_p.E583K|PRKCQ_uc009xin.2_Missense_Mutation_p.E610K|PRKCQ_uc010qax.2_Missense_Mutation_p.E521K	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	646	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						GGGTCAATCTCCTTCCGTTCA	0.607000														32			19		0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71247407	71247407	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr3:71247407C>T	uc003dol.3	-	1	449	c.126G>A	c.(124-126)ccG>ccA	p.P42P	FOXP1_uc003dom.3_Silent_p.P42P|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Silent_p.P42P|FOXP1_uc003doo.3_Silent_p.P42P|FOXP1_uc003dop.3_Silent_p.P42P|FOXP1_uc021xao.1_Silent_p.P42P|FOXP1_uc003doq.1_Silent_p.P42P|FOXP1_uc003dos.3_Silent_p.P42P	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	42					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			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)		TGTCCACGGCCGGCGTCTCTC	0.632000			T	PAX5	ALL									128			22		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394597	86394597	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr7:86394597C>T	uc003uid.3	+	1	1235	c.136C>T	c.(136-138)Cct>Tct	p.P46S	GRM3_uc010lef.3_Missense_Mutation_p.P44S|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	46					synaptic transmission	integral to plasma membrane		p.F45Y(1)		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)	GGGCCTGTTTCCTATTAACGA	0.408000														115			92		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71335029	71335029	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr17:71335029G>A	uc010dfm.3	-	44	6216	c.6216C>T	c.(6214-6216)tcC>tcT	p.S2072S	SDK2_uc002jjt.4_Silent_p.S1212S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	2072					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						GGTTGACAAAGGAGTGGGCCT	0.592000														38			18		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937419	21937419	+	RNA	SNP	A	T	T	rs7179663	by1000genomes	TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr15:21937419A>T	uc010tzj.1	-	0		c.3321T>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CTATGCTCACAATAGTTCTTA	0.378000														192			10		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94652062	94652062	+	Silent	SNP	T	C	C	rs144875752	byFrequency	TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:94652062T>C	uc001dqj.4	-	15	2142	c.1773A>G	c.(1771-1773)tcA>tcG	p.S591S	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.S157S	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	591					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)		TACCAGTTTCTGAAGGGGAAG	0.378000														176			11		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692572	135692572	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr5:135692572G>A	uc003lbn.2	-	1	726	c.504C>T	c.(502-504)atC>atT	p.I168I	TRPC7_uc010jef.2_Silent_p.I159I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.I168I|TRPC7_uc010jei.2_Silent_p.I168I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	168					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)			CCGCCAGGATGATGGGCGTGA	0.637000														123			43		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119043077	119043077	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr11:119043077C>T	uc001pvu.3	+	2	298	c.83C>T	c.(82-84)cCc>cTc	p.P28L	NLRX1_uc010rzc.1_Intron|NLRX1_uc001pvv.3_Missense_Mutation_p.P28L|NLRX1_uc001pvw.3_Missense_Mutation_p.P28L|NLRX1_uc001pvx.3_Missense_Mutation_p.P28L	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	28					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)		GATCGTATCCCCTTCCTGATC	0.527000														44			20		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54825182	54825182	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr15:54825182G>A	uc021smr.1	+	23	5608	c.5608G>A	c.(5608-5610)Gga>Aga	p.G1870R	UNC13C_uc021sms.1_Missense_Mutation_p.G1872R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1872					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)		GAGAGCAAATGGAAACACCAC	0.303000														10			7		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68810234	68810234	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr4:68810234C>T	uc003hdr.1	-	2	376	c.255G>A	c.(253-255)gtG>gtA	p.V85V	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Intron	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	85	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						TTACCTGACTCACCAAATTTT	0.348000														93			43		0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211300993	211300994	+	Silent	DNP	GG	AA	AA	rs141302000	by1000genomes	TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:211300993_211300994GG>AA	uc010zjh.2	-	7	1071_1072	c.996_997CC>TT	c.(994-999)ttcctg>ttTTtg	p.332_333FL>FL	LANCL1_uc002ved.3_Silent_p.332_333FL>FL|LANCL1_uc010fuq.3_Silent_p.332_333FL>FL	NM_001136574	NP_006046	O43813	LANC1_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 1 (bacterial) (LANCL1), transcript variant 2, mRNA.	332						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	G-protein coupled receptor activity|SH3 domain binding|catalytic activity|glutathione binding|low-density lipoprotein particle receptor binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TAGAGTGTCAGGAAGGCATAGG	0.510000														81			33		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770283	37770283	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr22:37770283G>A	uc003asq.4	-	2	2078	c.1292C>T	c.(1291-1293)tCt>tTt	p.S431F	ELFN2_uc021wph.1_Missense_Mutation_p.S431F	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	431						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)					GACGTTGACAGACTTCTGCTT	0.607000														86			37		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173455	207173455	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:207173455G>A	uc002vbp.2	+	4	4453	c.4203G>A	c.(4201-4203)aaG>aaA	p.K1401K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1401							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						TGGAAGATAAGAGCTATAAAT	0.358000														37			18		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545428	186545428	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr4:186545428G>A	uc003iyg.3	-	12	1517	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S	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.S481S|SORBS2_uc003iyl.3_Silent_p.S381S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.S285S|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.	381						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)		CACAGCTCCGGGATTTGATTT	0.532000														60			20		0	0	1	0	0
ZNF605	100289635	broad.mit.edu	37	12	133502309	133502309	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr12:133502309T>A	uc001uli.3	-	4	1895	c.1669A>T	c.(1669-1671)Att>Ttt	p.I557F	ZNF605_uc001ulh.3_Missense_Mutation_p.I526F|ZNF605_uc001ulj.3_Missense_Mutation_p.I526F	NM_001164715	NP_001158187	Q86T29	ZN605_HUMAN	Homo sapiens zinc finger protein 605 (ZNF605), transcript variant 2, mRNA.	526					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)		CCTGTATGAATTCTCTGATGC	0.423000														87			43		0	0	1	0	0
BOLA1	51027	broad.mit.edu	37	1	149871724	149871725	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:149871724_149871725AC>CT	uc021oya.1	+	0	112_113	c.112_113AC>CT	c.(112-114)acg>CTg	p.T38L	BOLA1_uc001etf.3_Missense_Mutation_p.T38L	NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	Homo sapiens bolA homolog 1 (E. coli) (BOLA1), mRNA.	38						extracellular region	protein binding	p.R37H(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGCCATTCGCACGAAGTTGGAG	0.688000														45			10		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207135788	207135788	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:207135788T>C	uc001hfa.4	-	4	922	c.422A>G	c.(421-423)tAc>tGc	p.Y141C	FCAMR_uc001hfb.3_Missense_Mutation_p.Y141C|FCAMR_uc009xca.2_Missense_Mutation_p.Y141C|FCAMR_uc021pig.1_Missense_Mutation_p.Y56C	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	96	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						ACGGCACCAGTACTTCCTCTG	0.577000														55			17		0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52052534	52052534	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr6:52052534G>A	uc003pak.1	+	1	206	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	54					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.R54L(2)|p.R54Q(2)|p.R54W(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ATCCATAACCGGAATACCAAT	0.458000														152			43		0	0	1	0	0
LOC643201	643201	broad.mit.edu	37	5	175572158	175572158	+	RNA	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr5:175572158C>T	uc003mdn.3	-	24		c.3620G>A								Homo sapiens centrosomal protein 192kDa pseudogene (LOC643201), non-coding RNA.																		AACACCACTTCATACTGAGGT	0.378000														14			3		0	0	1	0	0
MTFMT	123263	broad.mit.edu	37	15	65298462	65298462	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr15:65298462G>A	uc002aof.4	-	6	907	c.881C>T	c.(880-882)tCa>tTa	p.S294L		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), nuclear gene encoding mitochondrial protein, mRNA.	294						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	AGCAAGGACTGAACTGTTAAC	0.368000														39			10		0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186386822	186386822	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr3:186386822C>T	uc003fqq.3	+	1	305	c.282C>T	c.(280-282)tcC>tcT	p.S94S		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	94	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)		CACCTGATTCCAGACGTCCAT	0.423000														115			52		0	0	1	0	0
GMPPB	29925	broad.mit.edu	37	3	49759760	49759761	+	Missense_Mutation	DNP	GT	AC	AC			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr3:49759760_49759761GT>AC	uc003cxl.1	-	6	896_897	c.671_672AC>GT	c.(670-672)gac>gGT	p.D224G	AMIGO3_uc003cxj.3_5'Flank|GMPPB_uc003cxk.1_Missense_Mutation_p.D224G	NM_013334	NP_037466	Q9Y5P6	GMPPB_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase B (GMPPB), transcript variant 1, mRNA.	224					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGTGAGGAAGTCCTTGGGCTG	0.634000														43			10		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43181615	43181615	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr6:43181615G>A	uc003ouk.3	+	28	5728	c.5653G>A	c.(5653-5655)Gaa>Aaa	p.E1885K	CUL9_uc003oul.3_Missense_Mutation_p.E1857K|CUL9_uc010jyk.3_Missense_Mutation_p.E1037K|CUL9_uc003oun.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1885					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						AGCCCATGGGGAAAAGGGCCT	0.527000														103			38		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	59444	59444	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr4:59444C>T	uc003fzv.1	+	1	281	c.125C>T	c.(124-126)tCc>tTc	p.S42F	ZNF718_uc003fzt.4_Missense_Mutation_p.S42F|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AACCTGGTCTCCCTGGGTGAG	0.433000														770			44		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815598	23815598	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr4:23815598G>A	uc003gqs.3	-	7	1628	c.1508C>T	c.(1507-1509)tCa>tTa	p.S503L	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.	503					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)				GGCTAGTCCTGAATTTATAAA	0.428000														131			40		0	0	1	0	0
C17orf98	388381	broad.mit.edu	37	17	36997591	36997592	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr17:36997591_36997592CC>TT	uc002hqv.2	-	0	51_52	c.51_52GG>AA	c.(49-54)ttggac>ttAAac	p.D18N		NM_001080465	NP_001073934	A8MV24	CQ098_HUMAN	Homo sapiens chromosome 17 open reading frame 98 (C17orf98), mRNA.	18										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						GCCACCCCGTCCAAGATAAAGC	0.644000														39			13		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7701964	7701964	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr17:7701964C>T	uc002giu.1	+	53	8501	c.8487C>T	c.(8485-8487)ttC>ttT	p.F2829F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2829	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)				ATGAGTCCTTCCTAGAGGACA	0.522000														36			30		0	0	1	0	0
TRAV20	28663	broad.mit.edu	37	14	22509243	22509243	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr14:22509243C>T	uc021rpo.1	+	1	247	c.181C>T	c.(181-183)Cct>Tct	p.P61S	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_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_uc010tmm.2_Intron|TRAV20_uc021rpp.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 20, partial cds, clone: un 136.																		TAGGCAAGATCCTGGGAAAGG	0.488000														35			9		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150050	34150050	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chrX:34150050C>T	uc004ddg.3	-	0	398	c.346G>A	c.(346-348)Gcg>Acg	p.A116T		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	116										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						TCTACGAACGCCTTCCGTGCT	0.547000														59			44		0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886345	55886345	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr12:55886345C>A	uc010spo.2	+	0	199	c.199C>A	c.(199-201)Caa>Aaa	p.Q67K		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TTTTTTTCTCCAAAATTTATC	0.363000														125			50		4.86159e-25	4.93138e-25	1	1	0
LOC440563	440563	broad.mit.edu	37	1	13183328	13183328	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:13183328G>A	uc010obg.2	-	1	788	c.545C>T	c.(544-546)gCc>gTc	p.A182V		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	182						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CTGCTTAATGGCCTGAAGGTC	0.453000														818			66		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56087025	56087025	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr12:56087025T>C	uc001shh.3	-	19	2844	c.2624A>G	c.(2623-2625)aAt>aGt	p.N875S	ITGA7_uc001shg.3_Missense_Mutation_p.N871S|ITGA7_uc010sps.2_Missense_Mutation_p.N778S|ITGA7_uc009znw.3_Missense_Mutation_p.N118S|ITGA7_uc009znx.3_Missense_Mutation_p.N752S	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	915					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						CCACTTCCCATTGGCAATCTC	0.577000														56			27		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215799198	215799198	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:215799198C>T	uc001hku.1	-	71	15921	c.15534G>A	c.(15532-15534)gaG>gaA	p.E5178E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5178					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)		TCATCAGGTCCTCTTCATCCA	0.388000										HNSCC(13;0.011)				65			54		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608113	28608113	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr13:28608113G>A	uc001urw.3	-	14	1935	c.1853C>T	c.(1852-1854)tCa>tTa	p.S618L	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.S618L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	618	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G617_S618ins21(2)		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)	AAAAGCACCTGATCCTAGTAC	0.403000			"""Mis, O"""		"""AML, ALL"""									145			69		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43519247	43519247	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr7:43519247C>T	uc003tid.1	+	16	3743	c.3138C>T	c.(3136-3138)ttC>ttT	p.F1046F	HECW1_uc011kbi.1_Silent_p.F1012F	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1046	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.H1046Q(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						CTACCACTTTCATTGACCCCC	0.507000														164			47		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201352329	201352329	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:201352329G>A	uc001gwm.3	-	6	1494	c.1259C>T	c.(1258-1260)tCt>tTt	p.S420F		NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	420						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						AGACTTGACAGATTCTGATCT	0.592000														175			45		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14511989	14511989	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr18:14511989A>G	uc010dln.3	-	10	1991	c.1537T>C	c.(1537-1539)Tct>Cct	p.S513P	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	513										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGACTAAGAGAAAGCTAAGTA	0.318000														36			11		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219256178	219256178	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:219256178C>T	uc002vhv.3	+	10	1464	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	SLC11A1_uc010fvp.1_Missense_Mutation_p.S375F|SLC11A1_uc010fvq.1_Missense_Mutation_p.S308F|SLC11A1_uc010zkc.1_Missense_Mutation_p.S308F|SLC11A1_uc002vhu.1_Missense_Mutation_p.S170F|SLC11A1_uc002vhw.3_Missense_Mutation_p.S257F|SLC11A1_uc010fvr.3_Missense_Mutation_p.S170F	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	375					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)		GGGCAGAGCTCCACCATGACG	0.677000														10			6		0	0	1	0	0
NSRP1	84081	broad.mit.edu	37	17	28445171	28445171	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr17:28445171G>A	uc002heu.3	+	1	122	c.94G>A	c.(94-96)Gat>Aat	p.D32N	NSRP1_uc002hev.3_5'UTR|NSRP1_uc010wbl.2_Intron|NSRP1_uc010wbm.2_Intron|MIR3184_uc021tub.1_5'Flank	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA.	32	Poly-Asp.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GTTTGGGAATGATTCTGATGA	0.338000														99			43		0	0	1	0	0
OPTC	26254	broad.mit.edu	37	1	203465179	203465179	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:203465179G>A	uc001gzu.1	+	1	162	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	16						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTGCTGCAGGAGACAGGGAC	0.582000														21			16		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47897388	47897388	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr7:47897388A>T	uc003tny.2	-	27	4439	c.4405T>A	c.(4405-4407)Ttc>Atc	p.F1469I		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1469	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						AGGGTCCGGAACTCCATCTGC	0.498000														46			14		0	0	1	0	0
PVALB	5816	broad.mit.edu	37	22	37211171	37211171	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr22:37211171C>T	uc010gwz.3	-	1	200	c.170G>A	c.(169-171)gGc>gAc	p.G57D	PVALB_uc003apx.3_Missense_Mutation_p.G57D	NM_002854	NP_002845	P20472	PRVA_HUMAN	Homo sapiens parvalbumin (PVALB), mRNA.	57	EF-hand 1.						calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						CTCGATGAAGCCACTTTTGTC	0.557000														33			19		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146313	156146313	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:156146313C>T	uc001fnl.3	+	14	1990	c.1811C>T	c.(1810-1812)aCt>aTt	p.T604I	SEMA4A_uc009wrq.3_Missense_Mutation_p.T604I|SEMA4A_uc001fnm.3_Missense_Mutation_p.T604I|SEMA4A_uc001fnn.3_Missense_Mutation_p.T472I|SEMA4A_uc001fno.3_Missense_Mutation_p.T604I	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.	604	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GCCTCTTCCACTGTCTACAAT	0.562000														66			15		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191899303	191899303	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:191899303C>T	uc002usm.2	-	17	1906	c.1591G>A	c.(1591-1593)Ggt>Agt	p.G531S	STAT4_uc002usn.2_Missense_Mutation_p.G531S|STAT4_uc010zgk.1_Missense_Mutation_p.G376S|STAT4_uc002uso.2_Missense_Mutation_p.G531S	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	531					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)			GTGAGGTGACCATCACTGTAG	0.358000														101			32		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869182	36869182	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr20:36869182G>A	uc002xhy.1	-	2	1623	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	KIAA1755_uc002xhz.1_Missense_Mutation_p.P451S	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	451										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)				ATGGGCTTGGGAAGTCTCCCA	0.567000														72			44		0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492807	21492807	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr20:21492807C>T	uc002wsi.3	-	1	933	c.576G>A	c.(574-576)atG>atA	p.M192I		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	192					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						GCGTCACCTCCATACCTTTCT	0.667000														28			14		0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780401	94780401	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr14:94780401G>A	uc001ycv.3	-	1	689	c.585C>T	c.(583-585)ctC>ctT	p.L195L	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.	195					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			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)	TGACCAGGACGAGGATGGCTG	0.498000														86			27		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11576105	11576105	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:11576105C>T	uc001ash.4	+	5	1774	c.1636C>T	c.(1636-1638)Cac>Tac	p.H546Y	PTCHD2_uc001asi.1_Missense_Mutation_p.H546Y	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	546	SSD.				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)		CCAGGCCACCCACCTGGAAGA	0.592000														31			10		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232629309	232629309	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:232629309G>A	uc001hvg.3	-	1	1739	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	527					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)				AGTTGAACTGGGATCCTTCTT	0.473000														386			113		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46825899	46825899	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr6:46825899G>A	uc003oyo.3	-	16	4030	c.3741C>T	c.(3739-3741)ttC>ttT	p.F1247F	GPR116_uc011dwj.1_Silent_p.F802F|GPR116_uc011dwk.1_Silent_p.F676F|GPR116_uc003oyp.3_Silent_p.F1105F|GPR116_uc003oyq.3_Silent_p.F1247F|GPR116_uc010jzi.1_Silent_p.F919F	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1247					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)			ATATGATATGGAACACAAGGT	0.453000														80			28		0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47200581	47200581	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr6:47200581C>T	uc003oyv.3	-	5	2321	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	630					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	p.E630K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCAATAATTTCGAATAGCCGG	0.493000														129			58		0	0	1	0	0
VNN3	55350	broad.mit.edu	37	6	133045892	133045892	+	Silent	SNP	A	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr6:133045892A>T	uc011ecm.2	-	4	1174	c.282T>A	c.(280-282)ctT>ctA	p.L94L	VNN3_uc010kfs.3_Silent_p.L60L|VNN3_uc011ecl.2_Non-coding_Transcript|VNN3_uc011ecn.2_Silent_p.L94L|VNN3_uc010kfu.3_Silent_p.L94L|VNN3_uc010kfv.3_Non-coding_Transcript|VNN3_uc010kfw.3_Silent_p.L94L|VNN3_uc010kfx.3_Silent_p.L60L|VNN3_uc010kfy.3_Silent_p.L60L|VNN3_uc010kfz.3_Silent_p.L60L					Homo sapiens vanin 3 (VNN3), transcript variant 3, non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		TATTTCTCTTAAGCTTGGTGA	0.418000														27			15		0	0	1	0	0
CELF6	60677	broad.mit.edu	37	15	72579703	72579703	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr15:72579703G>A	uc002aui.2	-	10	2128	c.1667C>T	c.(1666-1668)gCc>gTc	p.A556V	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Non-coding_Transcript|CELF6_uc010biv.1_Non-coding_Transcript|CELF6_uc010ukl.1_Missense_Mutation_p.A313V|CELF6_uc010biw.2_Missense_Mutation_p.A337V|CELF6_uc002auh.2_Missense_Mutation_p.A450V|CELF6_uc010ukm.1_Missense_Mutation_p.A423V|CELF6_uc002auj.2_Missense_Mutation_p.A337V	NM_001172685	NP_001166156	Q96J87	CELF6_HUMAN	Homo sapiens CUGBP, Elav-like family member 6 (CELF6), transcript variant 3, mRNA.	450					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						AGCAGTCTGGGCACTAGTTGG	0.532000														70			28		0	0	1	0	0
RAET1G	353091	broad.mit.edu	37	6	150240199	150240199	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr6:150240199G>A	uc010kii.1	-	2	679	c.611C>T	c.(610-612)aCc>aTc	p.T204I	LOC100652739_uc003qni.2_Intron|LOC100652739_uc021zgr.1_Intron|RAET1G_uc003qnm.2_Non-coding_Transcript	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	Homo sapiens retinoic acid early transcript 1G (RAET1G), mRNA.	204	MHC class I alpha-2 like.				antigen processing and presentation|immune response	MHC class I protein complex|integral to membrane	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		TGGCTCCAGGGTGCTGTCCAT	0.463000														83			63		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23232506	23232506	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:23232506G>A	uc009vqj.1	+	9	1937	c.1792G>A	c.(1792-1794)Gat>Aat	p.D598N	EPHB2_uc001bge.3_Missense_Mutation_p.D599N|EPHB2_uc001bgf.3_Missense_Mutation_p.D598N|EPHB2_uc010odu.2_Missense_Mutation_p.D540N	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	598					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)		GATCTACATCGATCCTTTCAC	0.522000														48			25		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871160	51871160	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr20:51871160C>T	uc002xwo.3	+	1	2050	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	TSHZ2_uc021wex.1_Missense_Mutation_p.S385F	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	388					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)			TGTGGGAGCTCCCATGACACC	0.532000														74			36		0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74475323	74475323	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr17:74475323C>A	uc002jrq.2	-	4	690	c.396G>T	c.(394-396)tgG>tgT	p.W132C	RHBDF2_uc021udh.1_Missense_Mutation_p.W103C|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Missense_Mutation_p.W103C|RHBDF2_uc002jrs.1_Missense_Mutation_p.W103C	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	132					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCTGCCCCTCCCAGTCGCCGC	0.677000														11			5		0.000602214	0.000605068	1	1	0
SLC1A3	6507	broad.mit.edu	37	5	36680583	36680583	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr5:36680583G>A	uc003jkj.4	+	7	1657	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	SLC1A3_uc011cox.2_Missense_Mutation_p.G287E|SLC1A3_uc010iuy.3_Missense_Mutation_p.G394E	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.	394					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)	CTCCCCGTAGGAGCCACCATT	0.488000														63			29		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935484	30935484	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr19:30935484G>A	uc002nsu.1	+	1	1153	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	ZNF536_uc010edd.1_Missense_Mutation_p.E339K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	339					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)					CGGCGGTGGCGAGCAGTCGGC	0.647000														78			37		0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183543646	183543646	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:183543646G>A	uc001gqj.4	-	3	752	c.477C>T	c.(475-477)atC>atT	p.I159I	NCF2_uc010pod.2_Intron|NCF2_uc010poe.2_Intron|NCF2_uc001gqk.4_Silent_p.I159I	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	159					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCGCCTTGTCGATTTTGGAAT	0.463000														241			87		0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127484404	127484404	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr7:127484404C>T	uc003vmi.3	+	11	1496	c.1270C>T	c.(1270-1272)Cca>Tca	p.P424S	SND1_uc010lle.3_Missense_Mutation_p.P77S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	424	TNase-like 3.				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						CTACATTAGACCAGCCAGCCC	0.522000														28			19		0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181519	3181519	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr17:3181519G>A	uc002fvg.3	-	0	750	c.711C>T	c.(709-711)atC>atT	p.I237I		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	237					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R236*(1)		ovary(1)	1						CCACTGAACGGATTCGTAGAA	0.522000														46			31		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111666450	111666450	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:111666450G>A	uc010yxk.1	+	10	1097	c.873G>A	c.(871-873)ctG>ctA	p.L291L	ACOXL_uc021vmm.1_Silent_p.L114L|ACOXL_uc021vmn.1_Silent_p.L114L	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	291					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						TGCCCCACCTGGCCACAGCCT	0.542000														56			23		0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57665412	57665412	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr17:57665412C>T	uc002ixn.2	+	11	1727	c.1580C>T	c.(1579-1581)cCt>cTt	p.P527L	DHX40_uc010woe.2_Missense_Mutation_p.P450L|DHX40_uc010wof.2_Missense_Mutation_p.P42L	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	527							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)					TTCATTAGACCTGGTAAGATG	0.428000														60			14		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702223	179702223	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:179702223G>A	uc002une.2	-	22	3841	c.3723C>T	c.(3721-3723)tcC>tcT	p.S1241S	CCDC141_uc002unf.1_Silent_p.S720S	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	666							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)			GAAGGCTGAGGGAGGAGCTGA	0.587000														47			18		0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176965996	176965996	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr5:176965996G>A	uc003mhu.3	-	1	452	c.363C>T	c.(361-363)ctC>ctT	p.L121L	FAM193B_uc003mht.3_5'Flank|FAM193B_uc003mhv.3_5'UTR|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.	0										kidney(1)|large_intestine(3)	4						TCTCGCCTAGGAGATTCTTGA	0.552000														72			29		0	0	1	0	0
GNLY	10578	broad.mit.edu	37	2	85922457	85922457	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:85922457C>T	uc002sql.4	+	1	195	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	GNLY_uc010fgp.3_Missense_Mutation_p.R8C|GNLY_uc010ysx.2_Missense_Mutation_p.R50C	NM_006433	NP_006424	P22749	GNLY_HUMAN	Homo sapiens granulysin (GNLY), transcript variant NKG5, mRNA.	23					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						GGTCTTCTCTCGTCTGAGCCC	0.627000														22			12		0	0	1	0	0
RWDD1	51389	broad.mit.edu	37	6	116911443	116911443	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr6:116911443C>T	uc003pxd.3	+	4	586	c.423C>T	c.(421-423)ttC>ttT	p.F141F	RWDD1_uc003pxc.3_Silent_p.F45F|RWDD1_uc003pxb.3_Silent_p.F45F	NM_015952	NP_057188	Q9H446	RWDD1_HUMAN	Homo sapiens RWD domain containing 1 (RWDD1), transcript variant 1, mRNA.	141							protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		AGCAATTATTCCATGGTACTC	0.294000														23			15		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594154	140594154	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr5:140594154T>A	uc003lja.1	+	0	646	c.459T>A	c.(457-459)ttT>ttA	p.F153L		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	153	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)			GGACTACGTTTCCTCTGAAGA	0.443000														114			54		0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128047035	128047035	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:128047035G>C	uc002toh.1	-	5	795	c.700C>G	c.(700-702)Cga>Gga	p.R234G	ERCC3_uc002toe.1_5'UTR|ERCC3_uc002tof.1_Missense_Mutation_p.R170G|ERCC3_uc002tog.1_Missense_Mutation_p.R170G|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_Non-coding_Transcript	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.	234					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)		TCTGTCACTCGGGAAGTGGAG	0.468000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					64			16		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869119	174869119	+	Silent	SNP	G	A	A	rs141925440		TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr5:174869119G>A	uc003mcz.3	-	1	1929	c.984C>T	c.(982-984)ccC>ccT	p.P328P	DRD1_uc021yia.1_Silent_p.P328P	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	328					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)	CATAAATGATGGGGTTCAAGG	0.483000														44			30		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79291087	79291087	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr4:79291087G>A	uc003hlb.2	+	22	3258	c.2818G>A	c.(2818-2820)Gag>Aag	p.E940K	FRAS1_uc003hkw.3_Missense_Mutation_p.E940K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	940					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						ATGTCAATACGAGAGCTGCGC	0.478000														23			16		0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36671008	36671008	+	Missense_Mutation	SNP	G	A	A	rs2068826		TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr9:36671008G>A	uc003zzn.3	+	15	1657	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	MELK_uc011lpm.2_Missense_Mutation_p.E376K|MELK_uc011lpn.2_Missense_Mutation_p.E466K|MELK_uc011lpo.2_Missense_Mutation_p.E313K|MELK_uc010mll.3_Missense_Mutation_p.E475K|MELK_uc011lpp.2_Missense_Mutation_p.E459K|MELK_uc010mlm.3_Missense_Mutation_p.E436K|MELK_uc011lpr.2_Missense_Mutation_p.E436K|MELK_uc011lpq.2_Missense_Mutation_p.E313K|MELK_uc011lps.2_Missense_Mutation_p.E427K	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	507						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)			CCGCTCAGTGGAATTGGATCT	0.488000														39			34		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695394	247695394	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:247695394C>T	uc021pmb.1	-	0	420	c.420G>A	c.(418-420)caG>caA	p.Q140Q	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.Q140Q	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	140					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)			CAAGGCAAAGCTGTGGATGCA	0.597000														24			20		0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248814039	248814039	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:248814039G>A	uc010pzo.2	-	0	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	49					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)			AGTCTATGTGGATGAGAATGA	0.527000														43			12		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761678	130761678	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr6:130761678G>A	uc003qcb.3	+	1	2489	c.111G>A	c.(109-111)aaG>aaA	p.K37K	TMEM200A_uc003qca.3_Silent_p.K37K|TMEM200A_uc010kfh.3_Silent_p.K37K|TMEM200A_uc010kfi.3_Silent_p.K37K|TMEM200A_uc021zfg.1_Silent_p.K37K	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	37						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)		CCCAAGAGAAGAAGCCCATCA	0.537000														79			46		0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33868069	33868069	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr3:33868069C>T	uc003cfx.3	+	5	869	c.714C>T	c.(712-714)ccC>ccT	p.P238P	PDCD6IP_uc011axv.2_Silent_p.P238P|PDCD6IP_uc003cfy.3_Silent_p.P238P|PDCD6IP_uc011axw.2_5'Flank	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	238	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						ATACTCTCCCCAAGGTCAGTT	0.313000														60			17		0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131513739	131513739	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr9:131513739G>A	uc004bwa.1	-	5	1424	c.991C>T	c.(991-993)Ctc>Ttc	p.L331F		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA.	331					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						TTCTCAAAGAGCCCGAGGAAC	0.587000														39			44		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299059	62299059	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr11:62299059G>A	uc001ntl.3	-	4	3130	c.2830C>T	c.(2830-2832)Ccc>Tcc	p.P944S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	944					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)				GAGATCTTGGGGGCCTTGATA	0.473000														152			110		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402594	248402594	+	Missense_Mutation	SNP	C	T	T	rs61743231		TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:248402594C>T	uc010pzh.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	122					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)			GGCTTATGACCGCTATGTGGC	0.463000														137			32		0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27210166	27210166	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr17:27210166G>A	uc002hdc.3	-	3	429	c.306C>T	c.(304-306)gtC>gtT	p.V102V		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	102					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TCTGCAGGACGACGTTTTTGA	0.572000														84			37		0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20874863	20874863	+	Missense_Mutation	SNP	T	C	C	rs62000628	by1000genomes	TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr15:20874863T>C	uc010tze.1	-	2	482	c.275A>G	c.(274-276)cAc>cGc	p.H92R	NBEAP1_uc010tzd.2_Non-coding_Transcript					Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA.																		TATTTTAAGGTGTGCATTATC	0.348000														94			5		0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27193269	27193269	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr15:27193269C>T	uc001zbd.2	+	10	1810	c.1278C>T	c.(1276-1278)gaC>gaT	p.D426D	GABRA5_uc021sgi.1_Silent_p.D426D|GABRA5_uc001zbe.1_Non-coding_Transcript	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	426					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)	GCAAAATTGACAAAATGTCCC	0.448000														31			6		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7227580	7227580	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr17:7227580T>C	uc002gga.1	-	10	1916	c.1909A>G	c.(1909-1911)Acg>Gcg	p.T637A	GPS2_uc002ggb.1_Missense_Mutation_p.T637A|GPS2_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				ACGCCCACCGTGTCCCCTGCC	0.657000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			18		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200685	132200685	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:132200685G>A	uc002tst.2	-	0	1783	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CAGAGACGCCGAAGGAAACCC	0.617000														8			7		0	0	1	0	0
SNX16	64089	broad.mit.edu	37	8	82715355	82715355	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr8:82715355G>A	uc003ycn.3	-	5	1051	c.790C>T	c.(790-792)Cat>Tat	p.H264Y	SNX16_uc003yco.3_Missense_Mutation_p.H235Y|SNX16_uc011lft.2_Missense_Mutation_p.H264Y	NM_152836	NP_690049	P57768	SNX16_HUMAN	Homo sapiens sorting nexin 16 (SNX16), transcript variant 2, mRNA.	264					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						GTGTCTATATGAAGTTGCTTC	0.368000														84			29		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70179621	70179621	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr11:70179621G>A	uc001opo.3	+	9	1473	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	PPFIA1_uc001opn.2_Missense_Mutation_p.E420K|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.	420					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)			ACGACAGATGGAAGCACAGTT	0.537000														35			9		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865231	118865231	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr3:118865231C>T	uc003ecb.1	+	0	235	c.195C>T	c.(193-195)tcC>tcT	p.S65S	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Silent_p.S65S	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	65										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)		AGGCTGAATCCAGCATATTTA	0.522000														26			12		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121000846	121000846	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr11:121000846C>T	uc010rzo.2	+	8	2867	c.2867C>T	c.(2866-2868)tCt>tTt	p.S956F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	956					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)		CTCTGTGACTCTGTGGCCCGG	0.597000														35			35		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189587149	189587149	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr3:189587149C>T	uc003fry.2	+	8	1255	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	TP63_uc003frx.2_Missense_Mutation_p.S389F|TP63_uc003frz.2_Missense_Mutation_p.S389F|TP63_uc010hzc.1_Missense_Mutation_p.S389F|TP63_uc003fsa.2_Missense_Mutation_p.S295F|TP63_uc003fsb.2_Missense_Mutation_p.S295F|TP63_uc003fsc.2_Missense_Mutation_p.S295F|TP63_uc003fsd.2_Missense_Mutation_p.S295F|TP63_uc021xir.1_Missense_Mutation_p.S295F|TP63_uc010hzd.1_Missense_Mutation_p.S210F|TP63_uc003fse.1_Missense_Mutation_p.S266F	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	389					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.T388I(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)		CAGATGACATCCATCAAGAAA	0.408000										HNSCC(45;0.13)				47			17		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30695081	30695081	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr8:30695081G>A	uc003xil.3	-	2	7570	c.7570C>T	c.(7570-7572)Cct>Tct	p.P2524S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2524										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)		TCTAGATCAGGATGGACATCT	0.373000														96			31		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106791075	106791075	+	RNA	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr14:106791075G>A	uc021ser.1	-	619		c.17317C>T								Parts of antibodies, mostly variable regions.																		CGTGTTCTTGGAATTGTCTCT	0.502000														814			73		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66478990	66478990	+	Missense_Mutation	SNP	G	A	A	rs150000308		TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr5:66478990G>A	uc003juy.2	-	2	1829	c.1681C>T	c.(1681-1683)Cgt>Tgt	p.R561C		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	561					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	p.R561C(2)		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)		GGGAGGAGACGGGGTGAGATG	0.453000														50			19		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1584067	1584067	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr17:1584067A>T	uc002fte.3	-	7	1165	c.1051T>A	c.(1051-1053)Tac>Aac	p.Y351N		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	351						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)		GGGTCAAAGTAGAAAGCTGGC	0.473000														99			37		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377521	113377522	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr3:113377521_113377522CC>TT	uc003eam.3	-	6	3418_3419	c.3007_3008GG>AA	c.(3007-3009)ggt>AAt	p.G1003N	KIAA2018_uc003eal.3_Missense_Mutation_p.G947N	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1003					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						TGTAGTTAAACCTTGCCCCTTT	0.381000														149			61		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18837109	18837109	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr12:18837109C>T	uc021qvx.1	-	13	1887	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	PLCZ1_uc001rdv.4_Missense_Mutation_p.E462K|PLCZ1_uc001rdw.4_Missense_Mutation_p.E307K|PLCZ1_uc001rdu.1_Missense_Mutation_p.E348K|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	566	C2.				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)					CCAAGAAATTCATTTCCTGCT	0.333000														74			23		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10350413	10350413	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr17:10350413G>A	uc002gmn.3	-	34	5197	c.5086C>T	c.(5086-5088)Ctg>Ttg	p.L1696L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1696					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						GTCCGTTCCAGGGATGCCCTG	0.517000														93			45		0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71941316	71941316	+	Splice_Site	SNP	G	C	C			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr11:71941316G>C	uc001osf.3	+	9	1237	c.1090_splice	c.e9+1	p.I364_splice	INPPL1_uc001osg.3_Splice_Site_p.I122_splice	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	364					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						CACGACCGCAGTGAGCCAGGG	0.692000														36			8		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	406940	406941	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr9:406940_406941CC>TT	uc003zgf.2	+	27	3513_3514	c.3401_3402CC>TT	c.(3400-3402)tcc>tTT	p.S1134F	DOCK8_uc022bcu.1_Missense_Mutation_p.S1066F|DOCK8_uc010mgv.3_Missense_Mutation_p.S1034F|DOCK8_uc010mgu.3_Missense_Mutation_p.S436F|DOCK8_uc003zgk.2_Missense_Mutation_p.S592F	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1134					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)		AACTCAAGCTCCTGCTCCAGCT	0.530000														77			45		0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46216612	46216612	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr6:46216612G>A	uc003oyc.2	-	2	400	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	RCAN2_uc003oyb.2_Missense_Mutation_p.R37W|RCAN2_uc003oyd.2_Missense_Mutation_p.R83W	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	37					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						TCATAAGTCCGAAACAGTCCC	0.403000														48			21		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101105711	101105711	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr8:101105711G>A	uc003yjb.1	-	2	276	c.81C>T	c.(79-81)ttC>ttT	p.F27F	RGS22_uc003yja.1_5'UTR|RGS22_uc003yjc.1_Silent_p.F27F|RGS22_uc010mbo.1_Non-coding_Transcript	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	27					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.F27L(3)	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)			AGTCTACAAGGAAATCATCTG	0.264000														86			35		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566630	136566630	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:136566630G>A	uc002tuu.1	-	7	3298	c.3287C>T	c.(3286-3288)gCc>gTc	p.A1096V		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1096	4 X approximate repeats.			A -> T (in Ref. 1; CAA30801).	carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.A1096A(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)		TTTGATGACGGCGTGGGCTAT	0.552000														48			27		0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186307184	186307184	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:186307184A>C	uc001grv.3	-	30	4640	c.4343T>G	c.(4342-4344)cTt>cGt	p.L1448R	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1448					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)		TTGTGCTTTAAGTTCTTCATA	0.269000			T	NTRK1	papillary thyroid									75			14		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114304990	114304990	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr9:114304990C>T	uc004bff.2	+	5	1999	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	592					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						AGGCAGAATTCATGCCTTACC	0.398000														55			59		0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99266040	99266040	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr9:99266040G>A	uc004awj.3	-	13	1944	c.1492C>T	c.(1492-1494)Cgt>Tgt	p.R498C	CDC14B_uc004awk.3_Missense_Mutation_p.R459C|CDC14B_uc004awl.3_Non-coding_Transcript|CDC14B_uc004awi.3_Missense_Mutation_p.R461C	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	498					DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTTACTTAACGCAAGACTGTT	0.383000														96			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433209	179433209	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:179433209C>T	uc021vsy.1	-	274	70171	c.69946G>A	c.(69946-69948)Gaa>Aaa	p.E23316K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E17011K|TTN_uc021vta.1_Missense_Mutation_p.E16944K|TTN_uc021vtb.1_Missense_Mutation_p.E16819K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24243	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E23314K(1)|p.E17011K(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)			GTTACAATTTCGATGGATGCT	0.388000														67			23		0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121706063	121706063	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr8:121706063G>A	uc010mdg.3	-	1	883	c.657C>T	c.(655-657)tcC>tcT	p.S219S	SNTB1_uc003ype.3_Silent_p.S219S	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	219	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.S219F(1)		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)			CTAACCGAGGGGATTCAGGCG	0.552000														77			26		0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128333448	128333448	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr11:128333448A>C	uc010sbs.1	-	6	1382	c.1066T>G	c.(1066-1068)Tgg>Ggg	p.W356G	ETS1_uc001qej.2_Missense_Mutation_p.W400G|ETS1_uc009zch.2_Missense_Mutation_p.W140G|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.	356					PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCTCCTGTCCAGCTGATAAAA	0.458000														44			37		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56343598	56343598	+	Missense_Mutation	SNP	G	A	A	rs144914036	byFrequency	TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr17:56343598G>A	uc002ivt.3	+	10	1920	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	LPO_uc010wns.2_Missense_Mutation_p.R476H|LPO_uc010dcp.3_Missense_Mutation_p.R452H|LPO_uc010dcq.3_Missense_Mutation_p.R206H|LPO_uc010dcr.3_Missense_Mutation_p.R98H	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	535					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R535H(2)|p.R535C(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGAGAGCTGCGCAACAAGCTT	0.547000														37			15		0	0	1	0	0
PDK4	5166	broad.mit.edu	37	7	95217061	95217061	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr7:95217061C>T	uc003uoa.3	-	7	1168	c.848G>A	c.(847-849)gGa>gAa	p.G283E	PDK4_uc003unz.3_Missense_Mutation_p.G71E	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	283	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)			GTCTTCTTTTCCCAAGACAAC	0.388000														62			43		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111215722	111215722	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:111215722C>T	uc001dzv.1	-	0	1934	c.1710G>A	c.(1708-1710)aaG>aaA	p.K570K		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	570						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.K570N(2)		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)		CGGTGAATATCTTTTTGATGT	0.453000														86			51		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13381792	13381792	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr3:13381792G>A	uc003bxv.1	-	23	3318	c.3235C>T	c.(3235-3237)Ccc>Tcc	p.P1079S		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1079					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)					CTGAACGGGGGAAAGACCTGT	0.572000														23			5		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508414	37508414	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr10:37508414G>A	uc021ppc.1	+	33	3705	c.3606G>A	c.(3604-3606)agG>agA	p.R1202R	ANKRD30A_uc001iza.1_Silent_p.R1202R	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						AAGCTCAAAGGAAATCCAAAA	0.368000														34			17		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35518799	35518799	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr17:35518799G>A	uc002hnm.3	-	41	5325	c.5134C>T	c.(5134-5136)Cca>Tca	p.P1712S	ACACA_uc002hnk.3_Missense_Mutation_p.P1634S|ACACA_uc002hnl.3_Missense_Mutation_p.P1654S|ACACA_uc002hnn.3_Missense_Mutation_p.P1712S|ACACA_uc002hno.3_Missense_Mutation_p.P1749S|ACACA_uc010cuy.3_Missense_Mutation_p.P357S|ACACA_uc010wdc.2_5'UTR	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1712	Carboxyltransferase.				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)	TAGATGCGTGGAATACCTTCT	0.463000														123			40		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42122105	42122105	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr4:42122105G>A	uc003gwn.3	-	4	1933	c.1353C>T	c.(1351-1353)cgC>cgT	p.R451R	BEND4_uc003gwm.3_Intron|BEND4_uc011byy.1_Silent_p.R451R	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	451	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						GATCCAGAGGGCGTCTTTCGG	0.502000														22			13		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57395187	57395187	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:57395187A>G	uc001cyp.3	-	11	1733	c.1666T>C	c.(1666-1668)Tca>Cca	p.S556P	C8B_uc010oon.2_Missense_Mutation_p.S494P|C8B_uc010ooo.2_Missense_Mutation_p.S504P	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	556	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						CCAGAGCATGAAGACCAATTT	0.448000														54			30		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32196407	32196407	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:32196407G>A	uc001btn.3	-	28	4728	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S	BAI2_uc010ogn.2_Silent_p.S428S|BAI2_uc010ogo.2_Silent_p.S1067S|BAI2_uc010ogp.2_Silent_p.S1391S|BAI2_uc010ogq.2_Silent_p.S1425S|BAI2_uc001bto.3_Silent_p.S1458S|BAI2_uc001btp.1_Silent_p.S452S	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	1458					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1458S(2)		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)		TCACCTCCAGGGAGCCCATCT	0.682000														42			23		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794578	55794578	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr12:55794578C>T	uc010spl.2	+	0	266	c.266C>T	c.(265-267)aCc>aTc	p.T89I		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGAGACACAACCATTTCCTAT	0.353000														120			37		0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17279836	17279836	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:17279836C>T	uc001azt.2	+	20	3115	c.3046C>T	c.(3046-3048)Ctg>Ttg	p.L1016L	CROCC_uc009voz.1_Silent_p.L615L|CROCC_uc001azu.2_Silent_p.L319L	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1016					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)		GCGGGCCCAGCTGCAGAGTCA	0.687000														10			4		0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42077755	42077755	+	Silent	SNP	T	G	G			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr4:42077755T>G	uc003gwl.3	+	15	1646	c.1500T>G	c.(1498-1500)gtT>gtG	p.V500V	SLC30A9_uc011byx.2_Silent_p.V260V	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	500					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGGGCGAGTTGTTACAAGAT	0.328000														55			24		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247692	149247692	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:149247692C>T	uc002twm.4	+	11	4789	c.3792C>T	c.(3790-3792)ttC>ttT	p.F1264F	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.F522F|MBD5_uc002twp.3_Silent_p.F314F	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1264						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)		AGGAAAATTTCAGGTATAATA	0.408000														73			29		0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	681007	681007	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr11:681007G>A	uc001lqq.1	-	6	1646	c.953C>T	c.(952-954)tCc>tTc	p.S318F	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Intron	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	318					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)		GTTCTTGGGGGAGTCCTTCTT	0.527000														39			17		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1905555	1905555	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:1905555C>T	uc001aim.1	-	6	739	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	KIAA1751_uc009vkz.1_Missense_Mutation_p.G195R	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	195								p.G195V(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)		AGCCGCCGCCCCGTGGCCTCC	0.652000														23			10		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47283859	47283859	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:47283859C>T	uc001cqn.4	+	10	1413	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A	CYP4B1_uc001cqm.4_Silent_p.A442A|CYP4B1_uc009vym.3_Silent_p.A428A|CYP4B1_uc010omk.2_Silent_p.A279A	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	442					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)					ATCCCTTTGCCTTTATGCCCT	0.562000														74			30		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28268987	28268987	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr6:28268987C>T	uc003nky.3	+	6	1776	c.1356C>T	c.(1354-1356)gtC>gtT	p.V452V	PGBD1_uc003nkz.3_Silent_p.V452V	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	452					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						GCTTGGAAGTCACAGTTCAGG	0.363000														164			89		0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31939967	31939967	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr6:31939967G>A	uc003nyv.3	+	0	322	c.194G>A	c.(193-195)gGg>gAg	p.G65E	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Missense_Mutation_p.G65E|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Missense_Mutation_p.G65E|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	65						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GGCCGGCGTGGGGCCCGGCCT	0.701000														39			23		0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49967975	49967975	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr19:49967975C>T	uc002pnt.3	+	11	1640	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L	ALDH16A1_uc010yar.2_Silent_p.L457L|ALDH16A1_uc010yas.2_Silent_p.L343L|ALDH16A1_uc010yat.2_Silent_p.L345L	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	508							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCTTTGGCCTCGCTGTTCCCT	0.622000														73			52		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152554150	152554150	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:152554150C>T	uc021vrb.1	-	11	1194	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	NEB_uc002txu.3_Missense_Mutation_p.E389K|NEB_uc021vrc.1_Missense_Mutation_p.E389K|NEB_uc010fnx.3_Missense_Mutation_p.E389K|NEB_uc021vrd.1_Missense_Mutation_p.E389K|NEB_uc010fny.2_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	389					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)		TCATAGTTTTCCTTGTATAGT	0.348000														51			14		0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18643338	18643338	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chrX:18643338C>T	uc004cym.3	+	16	2720	c.2467C>T	c.(2467-2469)Ccc>Tcc	p.P823S	CDKL5_uc004cyn.3_Missense_Mutation_p.P823S|CDKL5_uc022btn.1_Missense_Mutation_p.P814S	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	823					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)					GGAGTGGCGCCCCGAGAAGAT	0.537000														81			32		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806092	22806092	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr18:22806092T>C	uc002kvk.2	-	3	2037	c.1790A>G	c.(1789-1791)aAt>aGt	p.N597S	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.N597S|ZNF521_uc002kvl.2_Missense_Mutation_p.N377S	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	597					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)					TTTCTTCCCATTGTGGATATA	0.443000			T	PAX5	ALL									46			27		0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48806008	48806008	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr19:48806008C>T	uc002pir.2	-	9	1755	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	CCDC114_uc002piq.2_Missense_Mutation_p.E167K|CCDC114_uc002pio.3_Missense_Mutation_p.E395K|CCDC114_uc002pis.1_Missense_Mutation_p.E38K|CCDC114_uc002pit.1_Missense_Mutation_p.E395K	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	358										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)		TCAAGGCGCTCAGCCTCCGAG	0.637000														39			22		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245861536	245861536	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:245861536G>A	uc001ibf.1	+	12	6393	c.5953G>A	c.(5953-5955)Gaa>Aaa	p.E1985K		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1985					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGGCCTTGGGGAACCCTTTGA	0.627000														44			14		0	0	1	0	0
C7orf45	136263	broad.mit.edu	37	7	129856273	129856273	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr7:129856273C>T	uc003vpp.3	+	2	745	c.698C>T	c.(697-699)tCc>tTc	p.S233F		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA.	233						integral to membrane				endometrium(2)|kidney(1)|lung(6)|ovary(1)	10	Melanoma(18;0.0435)					GAGGAAAGTTCCATATCTGAC	0.383000														212			133		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013018	247013018	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:247013018C>T	uc001ibv.2	-	32	6414	c.6317G>A	c.(6316-6318)aGc>aAc	p.S2106N	AHCTF1_uc009xgs.1_Missense_Mutation_p.S958N|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	2097	Necessary for nuclear 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)			CCGAGTCCTGCTGCTGCGGGA	0.453000														135			34		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341969	121341969	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr3:121341969C>T	uc003eeg.2	+	2	1903	c.1693C>T	c.(1693-1695)Cat>Tat	p.H565Y		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	565					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)		TCTTTTGGGTCATGGAGGAAA	0.512000														86			37		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092610	151092610	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chrX:151092610C>T	uc022cgv.1	+	0	474	c.474C>T	c.(472-474)tcC>tcT	p.S158S	MAGEA4_uc004fez.3_Silent_p.S158S|MAGEA4_uc004ffa.3_Silent_p.S158S|MAGEA4_uc004ffb.3_Silent_p.S158S|MAGEA4_uc022cgu.1_Silent_p.S186S|MAGEA4_uc004ffc.3_Silent_p.S158S|MAGEA4_uc004ffd.3_Silent_p.S158S	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	158	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)					CCTCCGAGTCCCTGAAGATGA	0.532000														85			66		0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5592769	5592769	+	Silent	SNP	G	A	A	rs138974953	byFrequency	TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr19:5592769G>A	uc002mcd.3	-	15	2549	c.2337C>T	c.(2335-2337)caC>caT	p.H779H		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	779	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding			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)		TGTCGATGGCGTGGTCCTGGT	0.602000														19			3		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798382	185798382	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:185798382C>T	uc002uph.3	+	2	902	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	103						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						GCATCTAAATCCAGGAAAGAT	0.373000														47			34		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634447	122634447	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr3:122634447C>T	uc003efz.1	-	13	2132	c.1828G>A	c.(1828-1830)Ggg>Agg	p.G610R	SEMA5B_uc011bju.1_Missense_Mutation_p.G552R|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.G610R|SEMA5B_uc010hro.1_Missense_Mutation_p.G552R	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.	610					cell differentiation|nervous system development	integral to membrane	receptor activity	p.D609E(1)		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)		CCGAAGCCCCCATCCCGTGTC	0.572000														30			4		0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515570	56515570	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr12:56515570C>T	uc001sjp.1	+	2	1413	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	ZC3H10_uc021qyw.1_Silent_p.I408I	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	408							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TGGCAGGAATCACAATGAGCC	0.587000														36			10		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3832835	3832835	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr16:3832835G>A	uc002cvv.3	-	5	1627	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	CREBBP_uc002cvw.3_Missense_Mutation_p.P437S	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	475					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)		GGGTCTATGGGATTTGGGTTA	0.542000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							60			27		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43052726	43052726	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr20:43052726G>A	uc002xma.3	+	7	1050	c.961G>A	c.(961-963)Gac>Aac	p.D321N	HNF4A_uc002xlt.3_Missense_Mutation_p.D299N|HNF4A_uc002xlu.3_Missense_Mutation_p.D299N|HNF4A_uc002xlv.3_Missense_Mutation_p.D299N|HNF4A_uc002xly.3_Missense_Mutation_p.D321N|HNF4A_uc010ggq.3_Missense_Mutation_p.D314N|HNF4A_uc002xlz.3_Missense_Mutation_p.D321N	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	321					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)			GAGCTTGGAGGACTACATCAA	0.602000														21			7		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100287	110100287	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr8:110100287G>A	uc003ymz.4	+	0	635	c.546G>A	c.(544-546)aaG>aaA	p.K182K		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	182						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)			GTGGCTACAAGATCTCCAGGA	0.413000														100			34		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819063	17819063	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chrX:17819063G>A	uc022btm.1	-	0	1068	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	RAI2_uc004cyf.3_Silent_p.P356P|RAI2_uc004cyg.3_Silent_p.P356P|RAI2_uc011miy.2_Silent_p.P306P|RAI2_uc022btl.1_Silent_p.P356P|RAI2_uc004cyh.4_Silent_p.P356P|RAI2_uc010nfa.3_Silent_p.P356P	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	356					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)					GTGTCTCAGGGGGAGGCTCGG	0.562000														40			22		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6908743	6908743	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr19:6908743A>G	uc002mfw.3	+	9	1120	c.1082A>G	c.(1081-1083)gAc>gGc	p.D361G	EMR1_uc010dvc.3_Missense_Mutation_p.D361G|EMR1_uc010dvb.3_Missense_Mutation_p.D309G|EMR1_uc010xji.2_Missense_Mutation_p.D220G|EMR1_uc010xjj.2_Missense_Mutation_p.D184G	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	361	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)					AGCGTTCTGGACAAAGTGTGT	0.388000														60			42		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56586580	56586580	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr18:56586580C>T	uc010xeg.2	+	2	1258	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	ZNF532_uc002lhp.3_Missense_Mutation_p.S352F|ZNF532_uc002lho.3_Missense_Mutation_p.S354F|ZNF532_uc002lhr.3_Missense_Mutation_p.S352F|ZNF532_uc002lhs.3_Missense_Mutation_p.S352F	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	354					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						CCCGCAGGGTCCACACCAGCA	0.507000														81			22		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5915235	5915235	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr12:5915235C>T	uc001qnm.2	-	8	1033	c.961G>A	c.(961-963)Gat>Aat	p.D321N		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	326						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						TCATTCATATCGTCCTCTGGA	0.478000														26			16		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78422045	78422045	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr5:78422045C>T	uc003kfu.4	+	5	907	c.802C>T	c.(802-804)Cca>Tca	p.P268S	BHMT_uc011cti.2_Missense_Mutation_p.P115S	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	268	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.P268T(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)	CCCAGAATTCCCATTTGGTAA	0.433000														42			17		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129722465	129722465	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr6:129722465G>A	uc021zfb.1	+	37	5647	c.5542G>A	c.(5542-5544)Gaa>Aaa	p.E1848K	LAMA2_uc003qbn.3_Missense_Mutation_p.E1848K|LAMA2_uc003qbo.3_Missense_Mutation_p.E1848K	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1848	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)		TCTTGCAGATGAAATCAACTC	0.398000														50			36		0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960730	7960730	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr11:7960730A>C	uc010rbi.2	-	0	338	c.338T>G	c.(337-339)tTt>tGt	p.F113C		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCCAGGAGAAAACATTCAGT	0.408000														88			59		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67753871	67753871	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr18:67753871A>C	uc002lkp.2	-	31	4420	c.4352T>G	c.(4351-4353)aTt>aGt	p.I1451S	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Missense_Mutation_p.I539S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1451							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATCCTTTATAATTTCTGTAGG	0.254000														152			66		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8613798	8613798	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr4:8613798G>A	uc003glm.3	+	7	1446	c.1272G>A	c.(1270-1272)atG>atA	p.M424I	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.M413I|CPZ_uc003gln.3_Missense_Mutation_p.M287I	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	424					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						TCCACCCCATGATGATGGACA	0.562000														23			9		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					98			75		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179505268	179505268	+	Splice_Site	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:179505268C>T	uc021vsy.1	-	170	33244	c.33019_splice	c.e170+1	p.V11007_splice	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Splice_Site_p.V4702_splice|TTN_uc021vta.1_Splice_Site_p.V4635_splice|TTN_uc021vtb.1_Splice_Site_p.V4510_splice|TTN_uc010fre.1_Splice_Site_p.V885_splice|TTN_uc002umw.1_Splice_Site|TTN_uc002umx.1_Splice_Site_p.V222_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11934	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)			AGATTTGTACCTTTTGTTGGT	0.338000														83			56		0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116691731	116691731	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr11:116691731C>T	uc001pps.1	-	2	1147	c.1043G>A	c.(1042-1044)aGg>aAg	p.R348K		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)		GACCTTGTCCCTCAGGTCCTT	0.577000														27			23		0	0	1	0	0
OTC	5009	broad.mit.edu	37	X	38260574	38260574	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chrX:38260574C>A	uc004def.4	+	4	647	c.433C>A	c.(433-435)Caa>Aaa	p.Q145K		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	145					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	p.Q145K(2)		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)	AGTGTATAAACAATCAGATTT	0.403000														33			6		0.00198382	0.00198382	1	1	0
SKIV2L	6499	broad.mit.edu	37	6	31930804	31930804	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr6:31930804C>T	uc003nyn.1	+	12	1728	c.1339C>T	c.(1339-1341)Cac>Tac	p.H447Y	SKIV2L_uc011dou.1_Missense_Mutation_p.H289Y|SKIV2L_uc011dov.1_Missense_Mutation_p.H254Y	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	447	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCTACCTGACCACGTTTCTAT	0.607000														51			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724441	140724441	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr5:140724441C>T	uc003ljm.2	+	0	841	c.841C>T	c.(841-843)Cta>Tta	p.L281L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.L281L	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), 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)			GTCTTATATTCTAGATAAAAT	0.448000														48			16		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956224	18956224	+	Silent	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr11:18956224G>A	uc001mpg.3	-	0	326	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	36			I -> V (in dbSNP:rs11024885).		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						CAAGGGAAACGATGCACGTCA	0.557000														173			53		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19636750	19636750	+	RNA	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr13:19636750G>A	uc001umb.1	-	5		c.832C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		ACTTCACATGGGTTTTCTCAT	0.542000														12			9		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20944735	20944735	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr16:20944735G>A	uc010vbe.2	-	61	12092	c.12092C>T	c.(12091-12093)aCg>aTg	p.T4031M	DNAH3_uc010vbd.2_Missense_Mutation_p.T1466M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	4031					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)		AATCTGCATCGTTTTCCTGTC	0.507000														88			40		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6977370	6977370	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr11:6977370T>C	uc001mey.3	+	6	1750	c.1162T>C	c.(1162-1164)Ttc>Ctc	p.F388L	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Missense_Mutation_p.F150L|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	388					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)		TGGGAAAGCCTTCTGCCGAAG	0.383000														34			31		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16990582	16990582	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr10:16990582G>A	uc001ioo.3	-	34	5156	c.5104C>T	c.(5104-5106)Ccc>Tcc	p.P1702S		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1702	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)	ATAGGATGGGGCATGTCGGTG	0.493000														27			3		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800759	185800759	+	Silent	SNP	C	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr2:185800759C>T	uc002uph.3	+	3	1230	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	212						intracellular	zinc ion binding	p.I212I(2)		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						GACACAAAATCGGCTTTTCTT	0.438000														98			33		0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77458735	77458735	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr5:77458735G>A	uc003kfj.3	-	12	1396	c.1271C>T	c.(1270-1272)aCt>aTt	p.T424I		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	424					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)		AGTCTGAATAGTGGCTGCTGC	0.408000									Hermansky-Pudlak syndrome					110			12		0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167750415	167750415	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr3:167750415G>A	uc011bpe.1	-	8	1413	c.1069C>T	c.(1069-1071)Ctt>Ttt	p.L357F	GOLIM4_uc003ffe.2_Missense_Mutation_p.L357F|GOLIM4_uc011bpf.1_Missense_Mutation_p.L329F|GOLIM4_uc011bpg.1_Missense_Mutation_p.L329F	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	357	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						TCCTCCTCAAGATGTTCTGCT	0.572000														147			48		0	0	1	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111824209	111824209	+	RNA	SNP	G	A	A	rs6537690	by1000genomes	TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:111824209G>A	uc009wgb.3	+	1		c.67G>A								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		TTCACCAACTGGGCCCAGAAC	0.517000														24			3		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr1:237024474delA	uc001hyi.4	+	19	2516	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_uc010pxw.2_Frame_Shift_Del_p.Q291fs|MTR_uc010pxx.2_Intron|MTR_uc010pxy.2_Frame_Shift_Del_p.Q552fs	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.N697T(1)		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)	AGGTTAAACCAAAAAAAATAT	0.308													---	148	---	---	7	---					
DNAH1	25981	broad.mit.edu	37	3	52423601	52423602	+	Splice_Site	INS	-	G	G	rs138518792	by1000genomes	TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr3:52423601_52423602insG	uc011bef.2	+	60	9882	c.9621_splice	c.e60+1	p.Q3207_splice	DNAH1_uc003ddv.3_Splice_Site_p.Q65_splice	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3272					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)		CGATCGTGGCAGGTGCCCACCC	0.658													---	4	---	---	2	---					
TALDO1	6888	broad.mit.edu	37	11	747521	747521	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr11:747521delG	uc001lqz.3	+	0	90	c.40delG	c.(40-42)gcgfs	p.A14fs	TALDO1_uc010qwl.2_Frame_Shift_Del_p.A14fs|TALDO1_uc001lra.3_Frame_Shift_Del_p.A14fs	NM_006755	NP_006746	P37837	TALDO_HUMAN	Homo sapiens transaldolase 1 (TALDO1), mRNA.	14					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	p.S13S(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GATGGAGTCCGCGCTGGACCA	0.731													---	10	---	---	6	---					
PABPC3	5042	broad.mit.edu	37	13	25671804	25671806	+	In_Frame_Del	DEL	GCT	-	-			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr13:25671804_25671806delGCT	uc001upy.3	+	0	1529_1531	c.1468_1470delGCT	c.(1468-1470)gctdel	p.A496del		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	496					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)		ACGTCctgcagctgctgctgctg	0.532													---	79	---	---	11	---					
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D9-A3Z3-06A-11D-A23B-08	TCGA-D9-A3Z3-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ed76151-1367-4e41-870d-06816e6a107d	32a2eed0-1c50-4482-8479-c8278ba893ca	g.chr15:45710840_45710841insT	uc001zve.3	+	6	2163_2164	c.2054_2055insT	c.(2053-2055)tgtfs	p.C685fs	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.	685						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)		GCAGAAACCTGTTTTTTTTCTG	0.361													---	120	---	---	7	---