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
PLBD2	196463	broad.mit.edu	37	12	113826404	113826404	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:113826404C>T	uc001tve.2	+	11	1778	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	PLBD2_uc001tvf.2_Silent_p.F549F	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	581					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCTGGAAGTTCGCGCCTGTCA	0.667000														14			8		0	0	3.86212e-05	0	0
EPX	8288	broad.mit.edu	37	17	56274326	56274326	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:56274326G>A	uc002ivq.3	+	6	947	c.828G>A	c.(826-828)aaG>aaA	p.K276K		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	276			K -> R (in dbSNP:rs35074452).		hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCGCATCAAGAACCAGCGTG	0.567000														23			15		0	0	7.07596e-05	0	0
SPON1	10418	broad.mit.edu	37	11	14277214	14277214	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:14277214C>T	uc001mle.3	+	9	1379	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	372	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ACCCACCATTCCCCAGGAGAA	0.473000														55			26		0	0	0.000147802	0	0
MMP16	4325	broad.mit.edu	37	8	89180031	89180031	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:89180031G>A	uc003yeb.4	-	3	858	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	192					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGTCCCCATGGAAACCAGATG	0.443000														16			6		0	0	3.59834e-05	0	0
PER1	5187	broad.mit.edu	37	17	8050864	8050864	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:8050864G>A	uc002gkd.3	-	11	1659	c.1421C>T	c.(1420-1422)cCg>cTg	p.P474L	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.P458L	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	474					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGGGGGCCGGGGGAGTGAA	0.647000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						14			4		0	0	0.000602214	0	0
NAT2	10	broad.mit.edu	37	8	18258111	18258111	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:18258111G>A	uc022asl.1	+	0	598	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	NAT2_uc003wyw.1_Missense_Mutation_p.E200K	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	200					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TCGAACAATTGAAGATTTTGA	0.358000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					39			26		0	0	0.000184323	0	0
C12orf63	374467	broad.mit.edu	37	12	97043781	97043781	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:97043781G>A	uc021rcc.1	+	1	156	c.78G>A	c.(76-78)aaG>aaA	p.K26K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	26										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTAAAGAAAAGGACCGAGGAG	0.338000														33			12		0	0	0.00010058	0	0
NBPF7	343505	broad.mit.edu	37	1	120382882	120382883	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:120382882_120382883GG>TT	uc010oxk.2	-	3	1244_1245	c.623_624CC>AA	c.(622-624)ccc>cAA	p.P208Q		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	208	NBPF 1.					cytoplasm		p.P208P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		AGTCTTACCTGGGAGCAGGTGA	0.401000														209			11		0	0	6.4e-05	0	0
CTNND2	1501	broad.mit.edu	37	5	11110978	11110979	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:11110978_11110979GG>TT	uc003jfa.1	-	13	2599_2600	c.2454_2455CC>AA	c.(2452-2457)tcccaa>tcAAaa	p.Q819K	CTNND2_uc010itt.2_Missense_Mutation_p.Q728K|CTNND2_uc011cmy.1_Missense_Mutation_p.Q482K|CTNND2_uc011cmz.1_Missense_Mutation_p.Q386K|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.Q386K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	819					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.S818F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACCTGATCTTGGGATTTCTTTT	0.500000														573			20		0	0	6.4e-05	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98469424	98469424	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:98469424C>T	uc001kmq.3	-	1	458	c.330G>A	c.(328-330)gaG>gaA	p.E110E		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	110						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGTCTAGGAACTCCTCGCTGT	0.597000														13			22		0	0	0.000229342	0	0
LRFN2	57497	broad.mit.edu	37	6	40360531	40360531	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr6:40360531G>A	uc003oph.1	-	2	1986	c.1521C>T	c.(1519-1521)atC>atT	p.I507I		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	507	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGCAGCCCACGATGTTGGTGG	0.607000														7			9		0	0	0.000274275	0	0
DPY19L4	286148	broad.mit.edu	37	8	95768263	95768264	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:95768263_95768264GG>TT	uc003ygx.2	+	7	736	c.612_splice	c.e7-1	p.R204_splice		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	204						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					GTTTATTTTAGGGTAGATACAA	0.312000														278			11		0	0	6.4e-05	0	0
WDR12	55759	broad.mit.edu	37	2	203764266	203764267	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:203764266_203764267CC>AA	uc002uzl.3	-	3	1075_1076	c.325_326GG>TT	c.(325-327)ggg>TTg	p.G109L		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	109	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TTCCTCTGCCCCTTTAATTGAA	0.371000														272			12		0	0	6.4e-05	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864154	144864155	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:144864154_144864155GG>TT	uc021ouh.1	-	35	6242_6243	c.5940_5941CC>AA	c.(5938-5943)tccctc>tcAAtc	p.L1981I	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.L1981I|PDE4DIP_uc001elx.4_Missense_Mutation_p.L1875I|PDE4DIP_uc001elv.4_Missense_Mutation_p.L988I|PDE4DIP_uc001ema.3_Missense_Mutation_p.L168I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1981					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.S1980S(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTTCCTGGAGGGAAAGACGTT	0.470000			T	PDGFRB	MPD									255			13		0	0	6.4e-05	0	0
ALDOB	229	broad.mit.edu	37	9	104187759	104187759	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:104187759G>A	uc004bbk.2	-	6	857	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	259					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGAACAGTACGGTGGAGAGCT	0.507000														65			20		0	0	0.000295444	0	0
CR1	1378	broad.mit.edu	37	1	207741369	207741369	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:207741369C>T	uc001hfy.3	+	16	2943	c.2803C>T	c.(2803-2805)Cct>Tct	p.P935S	CR1_uc009xcl.1_Missense_Mutation_p.P485S|CR1_uc001hfx.3_Missense_Mutation_p.P1385S|CR1_uc021pij.1_Missense_Mutation_p.P935S|CR1_uc009xck.1_Missense_Mutation_p.P485S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	935	Sushi 14.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGCCCTGCCCCTCGCTGTGG	0.537000														21			8		0	0	3.86212e-05	0	0
DSCAML1	57453	broad.mit.edu	37	11	117310603	117310603	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:117310603C>T	uc001prh.1	-	21	4094	c.4092G>A	c.(4090-4092)atG>atA	p.M1364I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1304	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAACATCTTTCATCCAAGGTG	0.567000														27			15		0	0	0.000422831	0	0
NR1H4	9971	broad.mit.edu	37	12	100928758	100928758	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:100928758G>A	uc001tht.2	+	3	747	c.719G>A	c.(718-720)gGt>gAt	p.G240D	NR1H4_uc001thq.2_Missense_Mutation_p.G230D|NR1H4_uc001thp.2_Missense_Mutation_p.G226D|NR1H4_uc001thr.2_Missense_Mutation_p.G230D|NR1H4_uc010svk.2_Missense_Mutation_p.G179D|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.G236D	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	240					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GACAGTGAAGGTCGTGACTTG	0.423000														30			5		0	0	3.59834e-05	0	0
GALNTL2	117248	broad.mit.edu	37	3	16216760	16216760	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:16216760C>T	uc003car.4	+	0	577	c.102C>T	c.(100-102)caC>caT	p.H34H	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	34						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						CGATGTTGCACCCTCCCCACC	0.597000														24			15		0	0	0.000422831	0	0
SPAG17	200162	broad.mit.edu	37	1	118537072	118537072	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:118537072G>A	uc001ehk.2	-	34	5203	c.5135C>T	c.(5134-5136)cCt>cTt	p.P1712L	SPAG17_uc021osr.1_Missense_Mutation_p.P222L	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1712						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCGGAGATTAGGAGGGACAAT	0.413000														21			12		0	0	0.00010058	0	0
DDX20	11218	broad.mit.edu	37	1	112308795	112308795	+	Silent	SNP	C	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:112308795C>A	uc001ebs.3	+	10	2106	c.1749C>A	c.(1747-1749)atC>atA	p.I583I	DDX20_uc010owf.2_Silent_p.I345I|DDX20_uc001ebt.3_Silent_p.I191I	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	583					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTTAAAATCCATCAGCCAT	0.428000														47			17		6.33239e-15	1.45503e-13	0.000175454	1	0
ACSBG2	81616	broad.mit.edu	37	19	6182918	6182918	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:6182918A>G	uc002mef.1	+	8	1290	c.1063A>G	c.(1063-1065)Aag>Gag	p.K355E	ACSBG2_uc002mee.1_Missense_Mutation_p.K168E|ACSBG2_uc002meg.1_Missense_Mutation_p.K355E|ACSBG2_uc002meh.1_Missense_Mutation_p.K355E|ACSBG2_uc002mei.1_Missense_Mutation_p.K305E|ACSBG2_uc010xiz.1_Missense_Mutation_p.K355E	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	355					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATTGGCTTCAAGGTCAACTC	0.498000														34			16		0	0	0.000132079	0	0
LARP1	23367	broad.mit.edu	37	5	154181827	154181828	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:154181827_154181828GG>AC	uc003lvo.3	+	10	1770_1771	c.1746_1747GG>AC	c.(1744-1749)ggggac>ggACac	p.D583H	LARP1_uc021ygh.1_Missense_Mutation_p.D455H|LARP1_uc021ygi.1_Missense_Mutation_p.D660H|LARP1_uc010jie.1_Missense_Mutation_p.D455H	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	660							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACCCAGGGGGGGACCGCACAGG	0.550000														20			13		0	0	6.4e-05	0	0
HMCN1	83872	broad.mit.edu	37	1	186158678	186158678	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:186158678G>A	uc001grq.1	+	106	16805	c.16576G>A	c.(16576-16578)Gaa>Aaa	p.E5526K	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.E978K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5526					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAATGATTTGGAATGTGCCTT	0.438000														19			15		0	0	0.000175454	0	0
RNF38	152006	broad.mit.edu	37	9	36356326	36356326	+	Missense_Mutation	SNP	G	A	A	rs149052036		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:36356326G>A	uc003zzh.3	-	5	1074	c.883C>T	c.(883-885)Cct>Tct	p.P295S	RNF38_uc003zzi.3_Missense_Mutation_p.P245S|RNF38_uc003zzj.3_Missense_Mutation_p.P212S|RNF38_uc003zzk.3_Missense_Mutation_p.P212S|RNF38_uc003zzl.3_Missense_Mutation_p.P219S|RNF38_uc003zzm.3_Missense_Mutation_p.P212S	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	295	Pro-rich.						zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GTTTGGAAAGGGACAAACTGG	0.398000														30			7		0	0	0.000157383	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857193	9857193	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr16:9857193G>A	uc010uym.2	-	13	4518	c.4208C>T	c.(4207-4209)tCg>tTg	p.S1403L	GRIN2A_uc002czo.4_Missense_Mutation_p.S1403L|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1403					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1402W(1)|p.S1403S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTCAAGGACGACCGAAGATA	0.512000														34			20		0	0	0.000375601	0	0
SYT9	143425	broad.mit.edu	37	11	7488027	7488027	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:7488027G>A	uc001mfe.3	+	6	1709	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q	SYT9_uc009yfi.3_Non-coding_Transcript|BC040358_uc001mff.1_Intron|BC040358_uc001mfg.3_5'Flank	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	491						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTGCAGAAACGATGACCATGG	0.363000														38			8		0	0	0.000442599	0	0
HNMT	3176	broad.mit.edu	37	2	138771544	138771544	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:138771544G>A	uc002tvf.3	+	5	977	c.723G>A	c.(721-723)tgG>tgA	p.W241*		NM_006895	NP_008826	P50135	HNMT_HUMAN	Homo sapiens histamine N-methyltransferase (HNMT), transcript variant 1, mRNA.	241					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	ACCTGCTTTGGGATTTTTTGA	0.423000														24			13		0	0	9.7654e-05	0	0
KRT77	374454	broad.mit.edu	37	12	53096993	53096993	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:53096993C>T	uc001saw.3	-	0	255	c.226G>A	c.(226-228)Ggg>Agg	p.G76R	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	76	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTGCTCCTCCCCATTAGATTA	0.587000														11			5		0	0	0.000602214	0	0
CR1	1378	broad.mit.edu	37	1	207741289	207741289	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:207741289C>T	uc001hfy.3	+	16	2863	c.2723C>T	c.(2722-2724)aCg>aTg	p.T908M	CR1_uc009xcl.1_Missense_Mutation_p.T458M|CR1_uc001hfx.3_Missense_Mutation_p.T1358M|CR1_uc021pij.1_Missense_Mutation_p.T908M|CR1_uc009xck.1_Missense_Mutation_p.T458M	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	908	Sushi 14.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACAGAGGGACGAGCTTCGAC	0.537000														32			14		0	0	0.000219431	0	0
SCN5A	6331	broad.mit.edu	37	3	38616931	38616931	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:38616931G>A	uc021wvo.1	-	18	3575	c.3523C>T	c.(3523-3525)Cgc>Tgc	p.R1175C	SCN5A_uc021wvk.1_Missense_Mutation_p.R1174C|SCN5A_uc021wvl.1_Missense_Mutation_p.R1121C|SCN5A_uc021wvm.1_Missense_Mutation_p.R1175C|SCN5A_uc021wvn.1_Missense_Mutation_p.R1174C|SCN5A_uc021wvp.1_Missense_Mutation_p.R1175C|SCN5A_uc021wvq.1_Missense_Mutation_p.R1174C|SCN5A_uc021wvr.1_Missense_Mutation_p.R1175C|SCN5A_uc021wvs.1_Missense_Mutation_p.R1175C|SCN5A_uc021wvt.1_Missense_Mutation_p.R1174C|SCN5A_uc021wvu.1_Missense_Mutation_p.R1121C|SCN5A_uc021wvv.1_Missense_Mutation_p.R1175C|SCN5A_uc021wvj.1_Missense_Mutation_p.R987C|SCN5A_uc021wvi.1_Missense_Mutation_p.R1041C|SCN5A_uc021wvw.1_Missense_Mutation_p.R785C	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1175					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGGGACAGCGCCGGACACAG	0.602000														3			4		0	0	0.000602214	0	0
SNX31	169166	broad.mit.edu	37	8	101629886	101629886	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:101629886C>T	uc003yjr.3	-	4	545	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	SNX31_uc011lhb.2_Missense_Mutation_p.E33K	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	132					cell communication|protein transport		phosphatidylinositol binding	p.I131I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GTTATAATTTCGATTCTAATA	0.368000														53			36		0	0	0.000191422	0	0
ELN	2006	broad.mit.edu	37	7	73449730	73449730	+	Missense_Mutation	SNP	G	A	A	rs55951999		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:73449730G>A	uc003tzw.3	+	1	210	c.119G>A	c.(118-120)gGa>gAa	p.G40E	ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Missense_Mutation_p.G40E|ELN_uc003tzy.3_Missense_Mutation_p.G40E|ELN_uc003tzz.3_Missense_Mutation_p.G40E|ELN_uc003tzo.3_Missense_Mutation_p.G40E|ELN_uc003tzp.3_Missense_Mutation_p.G40E|ELN_uc003tzq.3_Missense_Mutation_p.G40E|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.G40E|ELN_uc003tzt.3_Missense_Mutation_p.G40E|ELN_uc003tzu.3_Missense_Mutation_p.G40E|ELN_uc003tzv.3_Missense_Mutation_p.G40E|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G40E|ELN_uc011kff.2_Missense_Mutation_p.G40E	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	40					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GTTCCTGGAGGAGTCTTTTAT	0.488000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							19			8		0	0	3.86212e-05	0	0
INVS	27130	broad.mit.edu	37	9	103014720	103014720	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:103014720G>A	uc004bap.1	+	9	1446	c.1234_splice	c.e9+1	p.G412_splice	INVS_uc010mta.2_Splice_Site_p.G316_splice|INVS_uc011lve.1_Splice_Site_p.G316_splice|INVS_uc004bao.1_Splice_Site_p.G412_splice|INVS_uc004baq.1_Splice_Site_p.G316_splice|INVS_uc004bar.1_Splice_Site_p.G316_splice|INVS_uc010mtb.1_Splice_Site_p.G86_splice	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	412					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				ACTCATTAAAGGTGGGCTAAT	0.383000														10			6		0	0	3.59834e-05	0	0
OTOGL	283310	broad.mit.edu	37	12	80623040	80623040	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:80623040C>T	uc001szd.3	+	6	472	c.466C>T	c.(466-468)Cat>Tat	p.H156Y		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTTTAAGGTTCATAACAGCCC	0.323000														51			29		0	0	0.000491102	0	0
COL3A1	1281	broad.mit.edu	37	2	189858984	189858984	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:189858984C>T	uc002uqj.1	+	17	1336	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	407	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TCCTGGAGCTCCTGGACTGAT	0.483000														44			16		0	0	0.000566183	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434322	72434322	+	Missense_Mutation	SNP	C	T	T	rs17852391		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:72434322C>T	uc004ebi.3	-	0	389	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	3				E -> K (in Ref. 6; AAH26325).	nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TTCTCTGACTCGGCCATTTTT	0.527000														58			24		0	0	0.000117367	0	0
ADCY4	196883	broad.mit.edu	37	14	24799092	24799092	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:24799092G>A	uc001wow.3	-	7	1610	c.1191C>T	c.(1189-1191)aaC>aaT	p.N397N	ADCY4_uc010toh.2_Silent_p.N83N|ADCY4_uc001wox.3_Silent_p.N397N|ADCY4_uc001woy.3_Silent_p.N397N	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	397					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCTCCATGTGGTTAGCCAGTG	0.582000														24			16		0	0	0.000132079	0	0
ABCC8	6833	broad.mit.edu	37	11	17485076	17485076	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:17485076C>T	uc001mnc.3	-	3	614	c.488G>A	c.(487-489)gGc>gAc	p.G163D	ABCC8_uc010rcy.1_Missense_Mutation_p.G163D	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	163				G -> A (in Ref. 1; AAB02278/AAB02417/ AAB02418).	carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGCGAGAAGCCGATGGCGTG	0.567000														147			68		0	0	0.000147903	0	0
CEP135	9662	broad.mit.edu	37	4	56823443	56823443	+	Missense_Mutation	SNP	C	T	T	rs149954755		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:56823443C>T	uc003hbi.3	+	4	761	c.527C>T	c.(526-528)cCg>cTg	p.P176L	CEP135_uc003hbh.1_Missense_Mutation_p.P176L|CEP135_uc010igz.1_Missense_Mutation_p.P6L	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	176					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATTGATGAACCGGTTCCTCCC	0.408000														55			10		0	0	6.40141e-05	0	0
SYPL2	284612	broad.mit.edu	37	1	110019425	110019425	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:110019425C>T	uc001dxp.3	+	3	648	c.282C>T	c.(280-282)ccC>ccT	p.P94P	SYPL2_uc001dxo.2_Silent_p.P94P|SYPL2_uc010ovk.2_Silent_p.P94P|SYPL2_uc001dxq.2_Silent_p.P2P	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	94	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATGAGATGCCCCTCTGCGATG	0.577000														112			49		0	0	0.000147903	0	0
AKAP6	9472	broad.mit.edu	37	14	33014963	33014963	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:33014963C>T	uc001wrq.3	+	3	1274	c.1104C>T	c.(1102-1104)acC>acT	p.T368T	AKAP6_uc010aml.3_Silent_p.T365T	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	368					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAATGCAACCCCCAAACGAA	0.448000														27			21		0	0	0.000295444	0	0
TTC24	164118	broad.mit.edu	37	1	156552866	156552866	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:156552866A>T	uc021pbf.1	+	3	979	c.943A>T	c.(943-945)Agc>Tgc	p.S315C		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	315							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGGGCCGGAGCTTTGGCAG	0.657000														36			12		0	0	0.000151284	0	0
LILRA4	23547	broad.mit.edu	37	19	54849719	54849719	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:54849719C>T	uc002qfj.3	-	2	360	c.303G>A	c.(301-303)caG>caA	p.Q101Q	LILRA4_uc002qfi.3_Silent_p.Q35Q	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	101	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTGCAGGGCTCTGATAGTAAC	0.567000														34			19		0	0	0.000132079	0	0
SPATA2	9825	broad.mit.edu	37	20	48522829	48522829	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:48522829G>A	uc010gie.3	-	2	1240	c.890C>T	c.(889-891)tCg>tTg	p.S297L	SPATA2_uc002xuw.3_Missense_Mutation_p.S297L|SPATA2_uc010zyn.2_Missense_Mutation_p.S160L	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	297					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GGTCAGCAGCGAAGGGGATGG	0.662000														92			8		0	0	0.000157383	0	0
ADH1B	125	broad.mit.edu	37	4	100235037	100235037	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:100235037C>T	uc003hus.4	-	5	853	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ADH1B_uc003hut.4_Missense_Mutation_p.E217K|ADH1B_uc011ceh.2_Missense_Mutation_p.E102K|ADH1B_uc011cei.1_Missense_Mutation_p.E217K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	257					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.463000														92			28		0	0	0.000227799	0	0
LIPH	200879	broad.mit.edu	37	3	185252615	185252616	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:185252615_185252616GG>TT	uc003fpm.3	-	1	464_465	c.354_355CC>AA	c.(352-357)acccat>acAAat	p.H119N	LIPH_uc010hyh.3_Missense_Mutation_p.H119N	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	119					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTAGAGGCATGGGTATATATTA	0.386000														308			8		0	0	6.4e-05	0	0
TPH1	7166	broad.mit.edu	37	11	18062252	18062252	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:18062252G>A	uc001mnp.2	-	0	84	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	20	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GAAAAAATGAGACTTGCTCTT	0.323000														39			13		0	0	0.00010058	0	0
CDH4	1002	broad.mit.edu	37	20	60348124	60348124	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:60348124G>A	uc002ybn.2	+	3	550	c.462G>A	c.(460-462)ccG>ccA	p.P154P	CDH4_uc002ybr.2_Silent_p.P117P|CDH4_uc002ybp.2_Silent_p.P80P	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	154					adherens junction organization|cell junction assembly		calcium ion binding	p.W155fs*46(1)|p.L153Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCTGCTGCCGTGGCCCCAGC	0.647000														17			17		0	0	0.000422831	0	0
CA10	56934	broad.mit.edu	37	17	50008490	50008490	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:50008490G>A	uc002itv.4	-	3	893	c.157C>T	c.(157-159)Cct>Tct	p.P53S	CA10_uc002itw.4_Missense_Mutation_p.P47S|CA10_uc002itx.4_Missense_Mutation_p.P47S|CA10_uc002ity.4_Missense_Mutation_p.P47S|CA10_uc002itz.2_Missense_Mutation_p.P47S	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	47					brain development			p.V53M(1)|p.P47S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CAGAAAGAAGGAACTAGAAAC	0.428000														24			7		0	0	0.000157383	0	0
CHD6	84181	broad.mit.edu	37	20	40052148	40052149	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:40052148_40052149GG>TT	uc002xka.1	-	29	4716_4717	c.4538_4539CC>AA	c.(4537-4539)ccc>cAA	p.P1513Q		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1513					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTTTCCATGTGGGTAGACGACA	0.411000														416			17		0	0	6.4e-05	0	0
OVCA2	124641	broad.mit.edu	37	17	1946172	1946172	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:1946172C>T	uc002ftx.3	+	1	523	c.458C>T	c.(457-459)cCc>cTc	p.P153L	DPH1_uc002fts.3_3'UTR|DPH1_uc002ftt.3_3'UTR|DPH1_uc010cjx.3_3'UTR|DPH1_uc010vqs.2_3'UTR|DPH1_uc002ftv.3_3'UTR|DPH1_uc002ftw.3_3'UTR	NM_080822	NP_543012	Q8WZ82	OVCA2_HUMAN	Homo sapiens ovarian tumor suppressor candidate 2 (OVCA2), mRNA.	153					response to retinoic acid	cytoplasm	hydrolase activity										GGTTTCTGTCCCCGGGGCATT	0.587000											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			11		0	0	0.00010058	0	0
VAX1	11023	broad.mit.edu	37	10	118896004	118896004	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:118896004C>T	uc009xyx.3	-	1	653	c.408G>A	c.(406-408)caG>caA	p.Q136Q	VAX1_uc001ldb.1_Silent_p.Q136Q	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	Homo sapiens ventral anterior homeobox 1 (VAX1), transcript variant 1, mRNA.	136						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		AGAGGTTAAGCTGCCGGGCGA	0.667000														10			8		0	0	0.000274275	0	0
TIE1	7075	broad.mit.edu	37	1	43783328	43783328	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:43783328G>A	uc001ciu.3	+	15	2891	c.2714G>A	c.(2713-2715)gGg>gAg	p.G905E	TIE1_uc010oke.2_Missense_Mutation_p.G860E|TIE1_uc009vwq.3_Missense_Mutation_p.G861E|TIE1_uc010okg.2_Missense_Mutation_p.G550E	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	905	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AACCTCCTGGGGGCCTGTAAG	0.542000														24			34		0	0	0.000339439	0	0
ARF3	377	broad.mit.edu	37	12	49334741	49334741	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:49334741G>A	uc001rsr.2	-	1	391	c.138C>T	c.(136-138)atC>atT	p.I46I	ARF3_uc010smc.1_Silent_p.I46I	NM_001659	NP_001650	P61204	ARF3_HUMAN	Homo sapiens ADP-ribosylation factor 3 (ARF3), mRNA.	46					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity			endometrium(1)|lung(2)|skin(1)	4						CAATGGTAGGGATGGTGGTGA	0.577000														36			23		0	0	0.000375601	0	0
PTPN22	26191	broad.mit.edu	37	1	114380409	114380409	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:114380409G>A	uc001eds.3	-	12	1743	c.1613C>T	c.(1612-1614)tCa>tTa	p.S538L	PTPN22_uc021orx.1_Missense_Mutation_p.S538L|PTPN22_uc009wgq.3_Missense_Mutation_p.S483L|PTPN22_uc021ory.1_Missense_Mutation_p.S514L|PTPN22_uc010owo.2_Missense_Mutation_p.S294L|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.S538L|PTPN22_uc009wgs.2_Missense_Mutation_p.S411L|PTPN22_uc001edu.2_Missense_Mutation_p.S538L	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	538					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCCATGATGAAAAATAAGG	0.388000														44			50		0	0	0.000147903	0	0
CCDC87	55231	broad.mit.edu	37	11	66359836	66359836	+	Silent	SNP	G	A	A	rs17853294		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:66359836G>A	uc001oiq.4	-	0	719	c.651C>T	c.(649-651)ttC>ttT	p.F217F	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	217			F -> L (in dbSNP:rs17853294).							central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCACTTGGGCGAAGCCAGTGC	0.592000														29			7		0	0	0.000157383	0	0
NECAB1	64168	broad.mit.edu	37	8	91937813	91937813	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:91937813G>A	uc011lgg.2	+	6	739	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 1 (NECAB1), mRNA.	182					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CCTGGAAAACGATCAAGCCGC	0.463000														10			5		0	0	0.000602214	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143472	61143472	+	RNA	SNP	G	A	A	rs151182247		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:61143472G>A	uc021wfy.1	-	0		c.411C>T			C20orf166-AS1_uc002ycy.3_Non-coding_Transcript|C20orf166-AS1_uc002ycz.2_Non-coding_Transcript					Homo sapiens chromosome 20 open reading frame 200, mRNA (cDNA clone MGC:120891 IMAGE:7939701), complete cds.																		TTCTGCCCACGATAGAGACCC	0.647000														42			6		0	0	3.86212e-05	0	0
CARD11	84433	broad.mit.edu	37	7	2954975	2954975	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:2954975C>T	uc003smv.3	-	20	3069	c.2735G>A	c.(2734-2736)cGg>cAg	p.R912Q		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	912					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGTTCATCCGCTTATACTT	0.597000			Mis		DLBCL									13			17		0	0	7.07596e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223179144	223179145	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:223179144_223179145GG>TT	uc001hnu.2	+	9	4731_4732	c.4405_4406GG>TT	c.(4405-4407)ggg>TTg	p.G1469L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1469					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCATTTAATGGGGGAGGCTGGT	0.426000														336			11		0	0	6.4e-05	0	0
GUCY2C	2984	broad.mit.edu	37	12	14766074	14766074	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:14766074C>T	uc001rcd.3	-	26	3336	c.3199G>A	c.(3199-3201)Gac>Aac	p.D1067N		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	1067					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTCTCCTTGTCTGTGGTATTC	0.438000														43			5		0	0	3.59834e-05	0	0
GRID1	2894	broad.mit.edu	37	10	87966247	87966247	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:87966247G>A	uc001kdl.1	-	2	495	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	132						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCGGGGCTGGGGTTCAGGTGG	0.632000										Multiple Myeloma(13;0.14)				11			9		0	0	0.000442599	0	0
LYN	4067	broad.mit.edu	37	8	56912056	56912056	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:56912056C>T	uc003xsk.4	+	11	1566	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	LYN_uc003xsl.4_Silent_p.S407S	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	428	Protein kinase.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			ATGTGTGGTCCTTTGGAATCC	0.388000														31			18		0	0	9.7654e-05	0	0
MYH8	4626	broad.mit.edu	37	17	10303910	10303910	+	Missense_Mutation	SNP	G	A	A	rs142073810	byFrequency	TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:10303910G>A	uc002gmm.2	-	26	3627	c.3532C>T	c.(3532-3534)Cgc>Tgc	p.R1178C	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1178					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGGTCCCTGCGCAGTTTCTGA	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					59			11		0	0	0.000219431	0	0
SLC25A17	10478	broad.mit.edu	37	22	41166969	41166970	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:41166969_41166970CC>AA	uc003azc.3	-	8	932_933	c.792_793GG>TT	c.(790-795)atggga>atTTga	p.264_265MG>I*	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_Nonsense_Mutation_p.227_228MG>I*|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Nonsense_Mutation_p.191_192MG>I*	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	264					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TTGTAGAGTCCCATTATTCCAA	0.436000														426			10		0	0	6.4e-05	0	0
ABCC9	10060	broad.mit.edu	37	12	22078906	22078906	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:22078906C>T	uc001rfh.3	-	2	396	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	ABCC9_uc001rfi.1_Missense_Mutation_p.E126K|ABCC9_uc001rfk.3_Missense_Mutation_p.E126K|ABCC9_uc001rfl.1_Missense_Mutation_p.E126K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	126					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.I125I(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTGATGTTTCGATATTATGA	0.383000														46			13		0	0	0.000151284	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51043341	51043341	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:51043341G>C	uc003bmx.3	+	5	1728	c.1611G>C	c.(1609-1611)gaG>gaC	p.E537D	MAPK8IP2_uc003bmy.3_Missense_Mutation_p.E510D|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	538					MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGCGAAGAGGACAGCGGCG	0.701000														20			13		0	0	7.07596e-05	0	0
UNC5D	137970	broad.mit.edu	37	8	35425666	35425666	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:35425666G>A	uc003xjr.2	+	2	701	c.373G>A	c.(373-375)Gac>Aac	p.D125N	UNC5D_uc003xjs.2_Missense_Mutation_p.D120N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	125	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGGTGGAGGACTTCCATGG	0.522000														49			21		0	0	0.000295444	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	G	G	rs12107841	by1000genomes	TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587000														8			3		0	0	6.4e-05	0	0
ATP2C1	27032	broad.mit.edu	37	3	130716571	130716571	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:130716571G>T	uc011bli.2	+	23	2763	c.2467G>T	c.(2467-2469)Ggg>Tgg	p.G823W	ATP2C1_uc011blg.2_Missense_Mutation_p.G823W|ATP2C1_uc011blh.2_Missense_Mutation_p.G784W|ATP2C1_uc003enk.3_Missense_Mutation_p.G773W|ATP2C1_uc003enl.3_Missense_Mutation_p.G789W|ATP2C1_uc003enm.3_Missense_Mutation_p.G789W|ATP2C1_uc003enn.3_Missense_Mutation_p.G773W|ATP2C1_uc003eno.3_Missense_Mutation_p.G789W|ATP2C1_uc003enp.3_Missense_Mutation_p.G789W|ATP2C1_uc003ent.3_Missense_Mutation_p.G789W|ATP2C1_uc003ens.3_Missense_Mutation_p.G789W|ATP2C1_uc003enu.3_Missense_Mutation_p.G467W	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	789					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CATTGTTTGTGGGACTTTGTT	0.343000									Hailey-Hailey disease					71			14		9.16793e-09	2.07999e-07	0.000566183	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88888352	88888353	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:88888352_88888353GG>TT	uc002stc.4	-	6	1534_1535	c.1232_1233CC>AA	c.(1231-1233)ccc>cAA	p.P411Q		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	411					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CCAAAGCCTTGGGACTTGAAGG	0.356000														391			10		0	0	6.4e-05	0	0
TCTN2	79867	broad.mit.edu	37	12	124156062	124156062	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:124156062C>T	uc001ufp.3	+	1	219	c.91C>T	c.(91-93)Cct>Tct	p.P31S	TCTN2_uc009zya.3_Missense_Mutation_p.P31S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	31					cilium assembly|smoothened signaling pathway	integral to membrane		p.P31S(2)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		AGCTTTCATCCCTCCTTTTAT	0.617000														22			8		0	0	3.86212e-05	0	0
SOS2	6655	broad.mit.edu	37	14	50671028	50671029	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:50671028_50671029GG>TT	uc001wxs.4	-	1	284_285	c.186_187CC>AA	c.(184-189)gcccag>gcAAag	p.Q63K	SOS2_uc010tql.2_Missense_Mutation_p.Q63K	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	63					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GTCCTTGGCTGGGCCATGCATA	0.347000														221			9		0	0	6.4e-05	0	0
ASMTL	8623	broad.mit.edu	37	X	1531696	1531697	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:1531696_1531697CG>AT	uc004cpx.2	-	11	1710_1711	c.1573_1574CG>AT	c.(1573-1575)cgg>ATg	p.R525M	CRLF2_uc022brt.1_Intron|ASMTL-AS1_uc004cpv.3_Non-coding_Transcript|ASMTL-AS1_uc004cpw.3_Non-coding_Transcript|ASMTL_uc004cpy.2_Missense_Mutation_p.R509M|ASMTL_uc011mhe.2_Missense_Mutation_p.R449M|ASMTL_uc011mhf.2_Missense_Mutation_p.R467M	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	525	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGCAGGATCCGGCACAGGACG	0.550000														124			6		0	0	6.4e-05	0	0
ADH5	128	broad.mit.edu	37	4	99993838	99993839	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:99993838_99993839GG>TT	uc003hui.3	-	7	1065_1066	c.985_986CC>AA	c.(985-987)cca>AAa	p.P329K		NM_000671	NP_000662	P11766	ADHX_HUMAN	Homo sapiens alcohol dehydrogenase 5 (class III), chi polypeptide (ADH5), mRNA.	329					ethanol oxidation|response to redox state		S-(hydroxymethyl)glutathione dehydrogenase activity|alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|zinc ion binding	p.P329Q(4)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	CACCAACTTTGGGACACTTTCT	0.337000														259			8		0	0	6.4e-05	0	0
CACNA1S	779	broad.mit.edu	37	1	201058478	201058478	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:201058478G>A	uc001gvv.3	-	5	1035	c.808C>T	c.(808-810)Cat>Tat	p.H270Y		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	270					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTGATGCCATGGTTGGGCCCT	0.622000														19			8		0	0	0.000157383	0	0
RP1L1	94137	broad.mit.edu	37	8	10466818	10466818	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:10466818C>T	uc003wtc.3	-	3	5019	c.4790G>A	c.(4789-4791)gGg>gAg	p.G1597E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1597					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGCAGCTCCCCGGTGAGGGC	0.697000														13			4		0	0	0.00024832	0	0
SLC12A1	6557	broad.mit.edu	37	15	48537068	48537068	+	Silent	SNP	A	G	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:48537068A>G	uc001zwn.4	+	10	1635	c.1419A>G	c.(1417-1419)gaA>gaG	p.E473E	SLC12A1_uc010uew.1_Silent_p.E279E|SLC12A1_uc010bem.3_Silent_p.E473E|SLC12A1_uc001zwq.4_Silent_p.E244E|SLC12A1_uc001zwr.4_Silent_p.E200E	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	473					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTCGACATGAACCATGTCAGT	0.408000														31			10		0	0	6.40141e-05	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795561	142795561	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:142795561C>T	uc004fbz.3	-	1	871	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	39										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGCAAGCTCTGTTTGGGGG	0.403000														28			10		0	0	3.86212e-05	0	0
OR10A3	26496	broad.mit.edu	37	11	7960524	7960524	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:7960524G>A	uc010rbi.2	-	0	544	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182L(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTACCGGGGGAGTCTCACAG	0.433000														16			12		0	0	6.40141e-05	0	0
CLCNKA	1187	broad.mit.edu	37	1	16352615	16352615	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:16352615C>A	uc001axu.3	+	4	451	c.371C>A	c.(370-372)cCg>cAg	p.P124Q	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.P81Q|CLCNKA_uc001axv.3_Missense_Mutation_p.P124Q|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	124					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.P124Q(4)|p.P124H(2)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCTGGAATCCCGGAGCTGAAG	0.562000														123			6		8.12818e-05	0.00182112	8.12818e-05	1	0
DNAH9	1770	broad.mit.edu	37	17	11835419	11835419	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:11835419G>A	uc002gne.3	+	63	12262	c.12194G>A	c.(12193-12195)cGa>cAa	p.R4065Q	DNAH9_uc010coo.3_Missense_Mutation_p.R3283Q|DNAH9_uc002gnf.3_Missense_Mutation_p.R377Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4065	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R4064K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAGAAAGACGAAAATTTGGG	0.498000														56			25		0	0	0.000375601	0	0
TLR4	7099	broad.mit.edu	37	9	120476607	120476607	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:120476607T>C	uc004bjz.3	+	2	2492	c.2201T>C	c.(2200-2202)aTt>aCt	p.I734T	TLR4_uc004bkb.3_Missense_Mutation_p.I534T|TLR4_uc004bka.3_Missense_Mutation_p.I694T	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	734	TIR.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CGAAAGGTGATTGTTGTGGTG	0.488000														22			5		0	0	0.000602214	0	0
BCAS1	8537	broad.mit.edu	37	20	52611561	52611562	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:52611561_52611562GG>TT	uc002xws.2	-	5	1254_1255	c.916_917CC>AA	c.(916-918)cca>AAa	p.P306K	BCAS1_uc010zza.1_Missense_Mutation_p.P19K|BCAS1_uc010zzb.1_Missense_Mutation_p.P209K|BCAS1_uc010gim.2_Missense_Mutation_p.P209K|BCAS1_uc002xwt.2_Missense_Mutation_p.P306K|BCAS1_uc010gil.1_Missense_Mutation_p.P306K	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	306						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CGTGTCTTCTGGGTCCTTTTTT	0.342000														232			8		0	0	6.4e-05	0	0
RPE65	6121	broad.mit.edu	37	1	68914352	68914352	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:68914352C>T	uc001dei.1	-	1	103	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	17					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TCCACAGTTTCAAACAGTTTC	0.488000														14			15		0	0	0.000422831	0	0
CRISP2	7180	broad.mit.edu	37	6	49660571	49660571	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr6:49660571G>A	uc003ozn.2	-	9	883	c.647C>T	c.(646-648)tCc>tTc	p.S216F	CRISP2_uc003ozr.2_Missense_Mutation_p.S216F|CRISP2_uc003ozo.2_Missense_Mutation_p.S216F|CRISP2_uc003ozm.2_Missense_Mutation_p.S251F|CRISP2_uc003ozp.2_Missense_Mutation_p.S216F|CRISP2_uc003ozq.2_Missense_Mutation_p.S216F|CRISP2_uc003ozl.2_Missense_Mutation_p.S216F	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	216						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ATTCTTCAAGGAATCACAGTT	0.378000														21			10		0	0	0.000442599	0	0
CHD6	84181	broad.mit.edu	37	20	40054738	40054739	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:40054738_40054739CG>AT	uc002xka.1	-	27	4301_4302	c.4123_4124CG>AT	c.(4123-4125)cgg>ATg	p.R1375M		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1375					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	p.R1375W(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCACCTGCCCGGCTGTCATCC	0.406000														236			7		0	0	6.4e-05	0	0
ART5	116969	broad.mit.edu	37	11	3661298	3661298	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:3661298G>A	uc001lyb.1	-	1	754	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	ART5_uc001lyc.1_Missense_Mutation_p.R121W|ART5_uc001lyd.3_Missense_Mutation_p.R121W|ART5_uc009yea.3_Missense_Mutation_p.R121W	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	121						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	p.S120S(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGAGCTCCCGGGAGCCTCCG	0.592000														48			6		0	0	3.59834e-05	0	0
SMC4	10051	broad.mit.edu	37	3	160122245	160122245	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:160122245C>T	uc003fdh.3	+	4	753	c.640C>T	c.(640-642)Cga>Tga	p.R214*	IFT80_uc003fda.3_Intron|SMC4_uc003fdf.1_Non-coding_Transcript|SMC4_uc003fdg.1_Nonsense_Mutation_p.R214*|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.3_Nonsense_Mutation_p.R189*|SMC4_uc003fdj.3_Nonsense_Mutation_p.R214*|SMC4_uc010hwd.3_Nonsense_Mutation_p.R214*|MIR15B_uc011boz.1_5'Flank|MIR16-2_uc003fdk.3_5'Flank	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	214					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	p.R214*(4)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAATCTTCTTCGAAGCCATGG	0.313000														40			7		0	0	8.12818e-05	0	0
SLC17A8	246213	broad.mit.edu	37	12	100811903	100811903	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:100811903C>T	uc010svi.2	+	10	1707	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L	SLC17A8_uc009ztx.3_Missense_Mutation_p.P415L	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	465					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.C464S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATGGTCTGTCCCCTCATTGTC	0.493000														49			8		0	0	0.000274275	0	0
DMXL2	23312	broad.mit.edu	37	15	51772772	51772772	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:51772772C>T	uc010ufy.2	-	23	6756	c.6531G>A	c.(6529-6531)atG>atA	p.M2177I	DMXL2_uc002abd.3_Missense_Mutation_p.M247I|DMXL2_uc002abf.3_Missense_Mutation_p.M2177I|DMXL2_uc010bfa.3_Missense_Mutation_p.M1541I	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2177						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTTGAGTTCCATCCTTACTG	0.403000														21			10		0	0	6.40141e-05	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79068669	79068669	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:79068669G>A	uc002bej.4	-	10	1778	c.1567C>T	c.(1567-1569)Ctc>Ttc	p.L523F	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.L523F	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	523	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCCCACTGAGACACCACTAC	0.622000														25			24		0	0	0.000117367	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110030389	110030389	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:110030389G>A	uc001dxr.3	+	4	678	c.663G>A	c.(661-663)ggG>ggA	p.G221G	ATXN7L2_uc001dxs.3_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	221										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGCCCAGTGGGACCAGGCTGC	0.572000														83			26		0	0	9.22233e-05	0	0
CLCN5	1184	broad.mit.edu	37	X	49854958	49854958	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:49854958G>A	uc004dos.1	+	9	1968	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	CLCN5_uc004dor.1_Missense_Mutation_p.E644K|CLCN5_uc004doq.1_Missense_Mutation_p.E644K|CLCN5_uc004dot.1_Missense_Mutation_p.E574K	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	574					excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGAAGCCAAAGAAGAGTTTGC	0.498000														19			7		0	0	8.12818e-05	0	0
SORL1	6653	broad.mit.edu	37	11	121393299	121393299	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:121393299C>T	uc001pxx.3	+	9	1538	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	470					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTATAGCTTTCCCAGGGCTGT	0.577000														33			24		0	0	0.000586117	0	0
TDRD9	122402	broad.mit.edu	37	14	104492471	104492471	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:104492471C>T	uc001yom.4	+	26	3049	c.3019C>T	c.(3019-3021)Cag>Tag	p.Q1007*	TDRD9_uc001yon.4_Nonsense_Mutation_p.Q745*	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1007					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ACTTCCTTTCCAGGTAAGGTA	0.433000														45			10		0	0	3.86212e-05	0	0
TTC16	158248	broad.mit.edu	37	9	130489630	130489630	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:130489630G>A	uc004brq.1	+	11	1717	c.1650G>A	c.(1648-1650)gcG>gcA	p.A550A	PTRH1_uc011mah.2_5'Flank|TTC16_uc011mai.1_Silent_p.A537A|TTC16_uc004brr.1_Silent_p.A400A|TTC16_uc010mxn.1_Silent_p.A146A	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	550							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CTTTGATTGCGACCTCCGAGG	0.602000														12			6		0	0	3.59834e-05	0	0
OR1G1	8390	broad.mit.edu	37	17	3030838	3030838	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:3030838C>T	uc002fvc.1	-	0	8	c.8G>A	c.(7-9)gGg>gAg	p.G3E		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CAGATTTTTCCCCTCCATTTG	0.463000														8			11		0	0	3.86212e-05	0	0
MARCH6	10299	broad.mit.edu	37	5	10382033	10382034	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:10382033_10382034GG>TT	uc003jet.1	+	3	495_496	c.312_313GG>TT	c.(310-315)ttggga>ttTTga	p.104_105LG>F*	MARCH6_uc011cmu.1_Intron|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Intron	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	104					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.G105*(2)|p.L104F(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTGCATGGTTGGGAGTTGTTCC	0.366000														384			11		0	0	6.4e-05	0	0
CARD10	29775	broad.mit.edu	37	22	37891864	37891864	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:37891864C>T	uc003asx.1	-	13	2223	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Missense_Mutation_p.D54N|CARD10_uc003asw.1_Missense_Mutation_p.D450N|CARD10_uc003asy.1_Missense_Mutation_p.D736N	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	736					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TATGCCGAGTCCACCAGTCGA	0.607000														16			17		0	0	0.000566183	0	0
CHEK2	11200	broad.mit.edu	37	22	29083937	29083937	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:29083937G>A	uc003adu.1	-	14	1652	c.1580C>T	c.(1579-1581)gCc>gTc	p.A527V	CHEK2_uc010gvj.1_Non-coding_Transcript|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.A306V|CHEK2_uc010gvh.1_Missense_Mutation_p.A436V|CHEK2_uc010gvi.1_Missense_Mutation_p.A376V|CHEK2_uc003adt.1_Missense_Mutation_p.A570V|CHEK2_uc003adv.1_Missense_Mutation_p.A498V|CHEK2_uc003adx.1_Missense_Mutation_p.A306V	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	527					DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GGCACCCTCGGCTTCCCCTTC	0.463000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						15			14		0	0	0.000422831	0	0
SFTPD	6441	broad.mit.edu	37	10	81706217	81706217	+	Splice_Site	SNP	C	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:81706217C>A	uc001kbh.3	-	2	242	c.199_splice	c.e2+1	p.G67_splice		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	67	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCACCCTACCTGGGTCCCCC	0.602000														6			9		5.68852e-11	1.30293e-09	0.000274275	1	0
TRIM29	23650	broad.mit.edu	37	11	119993696	119993696	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:119993696G>A	uc001pwz.3	-	4	1525	c.1401C>T	c.(1399-1401)acC>acT	p.T467T	TRIM29_uc001pwx.3_5'Flank|TRIM29_uc010rzi.2_Silent_p.T206T|TRIM29_uc010rzj.2_Silent_p.T200T|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	467					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATCTCTTCATGGTGTCCGGTG	0.587000														18			18		0	0	0.000132079	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143305	41143305	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:41143305C>T	uc002ici.1	+	4	1426	c.1414C>T	c.(1414-1416)Ccg>Tcg	p.P472S		NM_173079	NP_775102	Q96C34	RUND1_HUMAN	Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.	472	RUN.							p.H471fs*9(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GGCCATGCACCCGTGGGAGCT	0.577000														32			15		0	0	0.000422831	0	0
MTMR12	54545	broad.mit.edu	37	5	32230401	32230401	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:32230401C>T	uc003jhq.3	-	15	1897	c.1727G>A	c.(1726-1728)aGa>aAa	p.R576K	MTMR12_uc010iuk.3_Missense_Mutation_p.R522K|MTMR12_uc010iul.3_Missense_Mutation_p.R466K	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	576	Myotubularin phosphatase.					cytoplasm	phosphatase activity	p.R576T(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GAAAAATCCTCTTTTGGGAGA	0.348000														67			70		0	0	0.000147903	0	0
SLC15A2	6565	broad.mit.edu	37	3	121616254	121616254	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:121616254C>T	uc003eep.2	+	2	366	c.213C>T	c.(211-213)ttC>ttT	p.F71F	SLC15A2_uc011bjn.1_Silent_p.F71F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	71					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCCTGTATTTCCTGTATTTCC	0.418000														66			21		0	0	0.000375601	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943102	12943102	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:12943102G>A	uc001aun.2	-	1	185	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	38										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTGGGGGGAAAAGTTCTG	0.627000														29			37		0	0	0.000191422	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612388	54612388	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:54612388G>A	uc022adk.1	+	1	558	c.153G>A	c.(151-153)caG>caA	p.Q51Q	VSTM2A_uc010kzf.3_Silent_p.Q51Q	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	51	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCGCCTTCCAGAGCGGCTCCG	0.642000														21			10		0	0	0.00010058	0	0
DAGLA	747	broad.mit.edu	37	11	61508748	61508748	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:61508748C>T	uc001nsa.3	+	18	2214	c.2098C>T	c.(2098-2100)Ccc>Tcc	p.P700S		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	700					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCAGCCACTCCCCACGGGGCC	0.657000														17			9		0	0	3.86212e-05	0	0
NLRP7	199713	broad.mit.edu	37	19	55450285	55450285	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:55450285C>T	uc002qih.4	-	3	1978	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	NLRP7_uc010esk.3_Missense_Mutation_p.M634I|NLRP7_uc002qig.4_Missense_Mutation_p.M634I|NLRP7_uc002qii.4_Missense_Mutation_p.M634I|NLRP7_uc010esl.3_Missense_Mutation_p.M662I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	634							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTCAAAATCCATGTAATTCT	0.473000														35			16		0	0	0.000566183	0	0
DPY19L4	286148	broad.mit.edu	37	8	95777452	95777453	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:95777452_95777453GG>TT	uc003ygx.2	+	8	1036_1037	c.912_913GG>TT	c.(910-915)ctggga>ctTTga	p.G305*		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	305						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					CCCTCTTTCTGGGATATTTACT	0.297000														389			12		0	0	6.4e-05	0	0
DEAF1	10522	broad.mit.edu	37	11	688032	688032	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:688032C>T	uc001lqq.1	-	3	1236	c.543G>A	c.(541-543)ctG>ctA	p.L181L	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Silent_p.L181L	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	181					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)		GGCCGGGAGCCAGAGGGGTTG	0.557000														24			5		0	0	3.59834e-05	0	0
COL7A1	1294	broad.mit.edu	37	3	48614170	48614170	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:48614170G>A	uc003ctz.2	-	66	5640	c.5639C>T	c.(5638-5640)cCt>cTt	p.P1880L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1880	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGGATACCAGGAGCTCCACG	0.612000														5			4		0	0	0.00024832	0	0
ZNF280B	140883	broad.mit.edu	37	22	22842470	22842470	+	Silent	SNP	T	C	C	rs144252957	byFrequency	TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:22842470T>C	uc002zwc.1	-	3	2030	c.1254A>G	c.(1252-1254)gtA>gtG	p.V418V	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Silent_p.V418V	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AATGTGTTTCTACATCAGCAA	0.398000														68			5		0	0	3.86212e-05	0	0
BMP15	9210	broad.mit.edu	37	X	50658933	50658933	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:50658933G>A	uc011mnw.2	+	1	554	c.505G>A	c.(505-507)Gga>Aga	p.G169R		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	169					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TTCCTCAGAAGGAGATTCCTC	0.478000														28			13		0	0	0.00010058	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221057	140221057	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:140221057G>A	uc003lhs.2	+	0	151	c.151G>A	c.(151-153)Gac>Aac	p.D51N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.D51N	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	64	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCGCGCAGGACCTGGGGCT	0.657000														48			6		0	0	0.000274275	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061597	12061597	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr16:12061597G>A	uc002dbv.3	+	2	666	c.448G>A	c.(448-450)Gag>Aag	p.E150K	TNFRSF17_uc010buy.3_3'UTR|TNFRSF17_uc010buz.3_Missense_Mutation_p.E101K	NM_001192	NP_001183	Q02223	TNR17_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA.	150					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CCCAGCTATGGAGGAAGGCGC	0.502000			T	IL2	intestinal T-cell lymphoma									38			28		0	0	0.000279167	0	0
NEU2	4759	broad.mit.edu	37	2	233899575	233899575	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:233899575C>T	uc010zmn.2	+	1	951	c.951C>T	c.(949-951)gcC>gcT	p.A317A		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	317							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GACCTCCAGCCCCTGAGGCCT	0.677000														15			18		0	0	9.7654e-05	0	0
MRPL51	51258	broad.mit.edu	37	12	6601614	6601615	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:6601614_6601615GG>TT	uc001qom.2	-	2	378_379	c.209_210CC>AA	c.(208-210)ccc>cAA	p.P70Q	NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank	NM_016497	NP_057581	Q4U2R6	RM51_HUMAN	Homo sapiens mitochondrial ribosomal protein L51 (MRPL51), nuclear gene encoding mitochondrial protein, mRNA.	70					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCAGTTCTTTGGGGTGCTTTTC	0.446000														123			6		0	0	6.4e-05	0	0
NBPF1	55672	broad.mit.edu	37	1	16907917	16907919	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:16907917_16907919GG>TT	uc009vos.1	-	14	2263_2265	c.1375_1377CC>AA	c.(1375-1377)ccc>AA	p.P459del	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.P188del	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	459	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTGTTACCTGGGGGCAGATGAT	0.438000														314			12		0	0	6.4e-05	0	0
CRYGB	1419	broad.mit.edu	37	2	209010708	209010708	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:209010708G>A	uc002vcp.4	-	1	75	c.42C>T	c.(40-42)ggC>ggT	p.G14G	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	14	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CGTAGCTGCGGCCCTGGAAGG	0.567000														49			19		0	0	0.000229342	0	0
PTPRT	11122	broad.mit.edu	37	20	40944528	40944528	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:40944528G>A	uc002xkg.3	-	11	2158	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L	PTPRT_uc010ggj.3_Silent_p.L658L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	658	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.S657C(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTAGAGAATCGAGGCTGGAGG	0.517000														52			16		0	0	7.07596e-05	0	0
UPF2	26019	broad.mit.edu	37	10	11973671	11973671	+	Silent	SNP	G	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:11973671G>T	uc001ila.3	-	18	4131	c.3657C>A	c.(3655-3657)atC>atA	p.I1219I	UPF2_uc001ilb.3_Silent_p.I1219I|UPF2_uc001ilc.3_Silent_p.I1219I	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	1219	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GCCGTTCATTGATATCTAGTG	0.363000														316			9		2.17888e-05	0.000491238	0.000442599	1	0
NCAPD3	23310	broad.mit.edu	37	11	134047153	134047153	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:134047153G>A	uc001qhd.1	-	22	3588	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	994					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCTGCTTCCGGATGAATGGGT	0.468000														26			5		0	0	3.59834e-05	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130339294	130339294	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:130339294G>A	uc010scd.2	+	4	1680	c.1680G>A	c.(1678-1680)gtG>gtA	p.V560V		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	560	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GAGTGAGGGTGAAATACCGAT	0.682000														12			9		0	0	0.000274275	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44511763	44511763	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:44511763C>T	uc021wem.1	+	0	532	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	ZSWIM1_uc010ghi.3_Nonsense_Mutation_p.Q178*	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	Homo sapiens zinc finger, SWIM-type containing 1 (ZSWIM1), mRNA.	178							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TAAGTTCCTCCAGGCCAAGTT	0.552000														32			33		0	0	0.00058488	0	0
NEB	4703	broad.mit.edu	37	2	152342299	152342300	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:152342299_152342300GG>TT	uc021vrb.1	-	147	20013_20014	c.19984_19985CC>AA	c.(19984-19986)cca>AAa	p.P6662K	NEB_uc002txr.3_Missense_Mutation_p.P3035K|NEB_uc002txu.3_Missense_Mutation_p.P8518K|NEB_uc021vrc.1_Missense_Mutation_p.P8518K|NEB_uc010fnx.3_Missense_Mutation_p.P6650K|NEB_uc021vrd.1_Missense_Mutation_p.P6662K|RIF1_uc002txp.3_Intron|NEB_uc010zbz.2_Missense_Mutation_p.P431K|NEB_uc002txq.3_Missense_Mutation_p.P541K|NEB_uc010zca.2_Missense_Mutation_p.P493K|NEB_uc010zcb.2_Missense_Mutation_p.P431K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6662	SH3.				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	p.P6662Q(2)|p.P8518Q(1)		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)		GTAGTTGGCTGGGAGCATTCCG	0.475000														161			7		0	0	6.4e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223179168	223179169	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:223179168_223179169CC>AA	uc001hnu.2	+	9	4755_4756	c.4429_4430CC>AA	c.(4429-4431)cca>AAa	p.P1477K		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1477					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TAGGTCTTGCCCAAATAATTCA	0.416000														351			10		0	0	6.4e-05	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153277455	153277455	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:153277455G>A	uc001fbn.1	-	2	397	c.344C>T	c.(343-345)tCc>tTc	p.S115F		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	115					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATGCCCAGGGAAATGTTGTT	0.537000														12			9		0	0	3.86212e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9071877	9071878	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:9071877_9071878GG>AA	uc002mkp.3	-	2	15772_15773	c.15568_15569CC>TT	c.(15568-15570)cct>TTt	p.P5190F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5192	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5190P(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCAGTCTAGGAGTCAAGAAA	0.485000														86			42		0	0	6.4e-05	0	0
DOCK3	1795	broad.mit.edu	37	3	51308301	51308301	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:51308301C>T	uc011bds.2	+	23	2434	c.2411C>T	c.(2410-2412)aCc>aTc	p.T804I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	804						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAAATGTTCACCGTGCAAGAG	0.517000														15			13		0	0	0.00010058	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:29628300G>A	uc010ztl.1	+	2	244	c.212G>A	c.(211-213)aGt>aAt	p.S71N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000														36			5		0	0	0.000274275	0	0
DPP10	57628	broad.mit.edu	37	2	116534832	116534832	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:116534832G>A	uc002tle.3	+	13	1303	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	DPP10_uc002tla.2_Missense_Mutation_p.E424K|DPP10_uc002tlb.2_Missense_Mutation_p.E374K|DPP10_uc002tlc.2_Missense_Mutation_p.E420K|DPP10_uc002tlf.2_Missense_Mutation_p.E417K	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	424					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGGAAACTGGGAAGTGATAAA	0.378000														23			4		0	0	3.59834e-05	0	0
FAT4	79633	broad.mit.edu	37	4	126411473	126411473	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:126411473C>T	uc003ifj.4	+	16	13496	c.13496C>T	c.(13495-13497)tCt>tTt	p.S4499F	FAT4_uc011cgp.2_Missense_Mutation_p.S2740F|FAT4_uc003ifi.1_Missense_Mutation_p.S1976F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4499					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAGAGATCTCTCTGCCTTTG	0.607000														41			8		0	0	0.000274275	0	0
PRC1	9055	broad.mit.edu	37	15	91525163	91525164	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:91525163_91525164GG>TT	uc002bqm.3	-	3	472_473	c.315_316CC>AA	c.(313-318)acccaa>acAAaa	p.Q106K	PRC1_uc002bqn.3_Missense_Mutation_p.Q106K|PRC1_uc002bqo.3_Missense_Mutation_p.Q106K|PRC1_uc010uqs.2_Missense_Mutation_p.Q65K|PRC1_uc010uqt.1_Missense_Mutation_p.Q54K	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	106	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AATTCCACTTGGGTGCGCAAAT	0.411000														401			14		0	0	6.4e-05	0	0
GPSM2	29899	broad.mit.edu	37	1	109444446	109444447	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:109444446_109444447CG>AT	uc010ovc.2	+	7	1328_1329	c.832_833CG>AT	c.(832-834)cga>ATa	p.R278I	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.R278I|GPSM2_uc010ove.1_Missense_Mutation_p.R278I	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	278					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GCTTAAAGACCGAGCTGTAGAA	0.356000														273			8		0	0	6.4e-05	0	0
NLRP3	114548	broad.mit.edu	37	1	247588393	247588393	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:247588393C>T	uc001icr.3	+	4	1786	c.1648C>T	c.(1648-1650)Cgt>Tgt	p.R550C	NLRP3_uc001ics.3_Missense_Mutation_p.R550C|NLRP3_uc001icu.3_Missense_Mutation_p.R550C|NLRP3_uc001icw.3_Missense_Mutation_p.R550C|NLRP3_uc001icv.3_Missense_Mutation_p.R550C|NLRP3_uc010pyw.2_Missense_Mutation_p.R548C|NLRP3_uc001ict.1_Missense_Mutation_p.R548C	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	550					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCAGGGAGTCGTTTGAAGCT	0.473000														20			15		0	0	0.000422831	0	0
TERT	7015	broad.mit.edu	37	5	1278880	1278880	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:1278880G>C	uc003jcb.1	-	5	2220	c.2162C>G	c.(2161-2163)cCc>cGc	p.P721R	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.P721R|TERT_uc003jca.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.P173R	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	721	Reverse transcriptase.		P -> R (in a family with autosomal recessive DKC; no effect on telomerase catalytic activity and little effect on binding to TERC).		DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTGTCCTGGGGGATGGTGTC	0.622000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					67			5		0	0	0.000602214	0	0
DYRK2	8445	broad.mit.edu	37	12	68051851	68051851	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:68051851C>T	uc001str.4	+	2	1566	c.1164C>T	c.(1162-1164)taC>taT	p.Y388Y	DYRK2_uc001sts.4_Silent_p.Y315Y|DYRK2_uc021raa.1_Silent_p.Y315Y	NM_006482	NP_003574	Q92630	DYRK2_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2), transcript variant 2, mRNA.	388	Protein kinase.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CGCGTTTTTACCGGGCTCCAG	0.507000														20			14		0	0	0.000219431	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359091	64359091	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:64359091G>A	uc001oam.1	+	0	810	c.63G>A	c.(61-63)acG>acA	p.T21T	SLC22A12_uc009ypr.1_Silent_p.T21T|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Silent_p.T21T|SLC22A12_uc001oan.1_Silent_p.T21T|SLC22A12_uc009ypt.3_5'Flank	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	21					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TTCTCCAGACGATGGCTCTGA	0.622000														29			15		0	0	0.000422831	0	0
BC071797	0	broad.mit.edu	37	21	9769119	9769119	+	RNA	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr21:9769119G>A	uc011abu.2	+	9		c.1094G>A								Homo sapiens, clone IMAGE:4720764, mRNA.																		GCTCAATTCCGATCTGTTGAA	0.373000														11			4		0	0	0.00024832	0	0
SAMD12	401474	broad.mit.edu	37	8	119391765	119391766	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:119391765_119391766CC>TT	uc003yom.2	-	3	625_626	c.496_497GG>AA	c.(496-498)ggg>AAg	p.G166K	SAMD12_uc010mda.1_Intron|SAMD12_uc010mdb.1_Intron	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	166										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TCTAATCTCCCCATCCATCCAC	0.416000														11			11		0	0	6.4e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13708438	13708438	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:13708438C>T	uc003jfd.2	-	75	13174	c.13132G>A	c.(13132-13134)Gag>Aag	p.E4378K	DNAH5_uc003jfc.2_Missense_Mutation_p.E546K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4378					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCAGCCTCTCTTTTACCTGC	0.483000									Kartagener syndrome					85			17		0	0	0.000175454	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918892	144918893	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:144918892_144918893GG>TT	uc021ouh.1	-	9	1595_1596	c.1293_1294CC>AA	c.(1291-1296)acccag>acAAag	p.Q432K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q432K|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q498K|PDE4DIP_uc001emd.2_Missense_Mutation_p.Q432K|PDE4DIP_uc001emc.2_Missense_Mutation_p.Q432K|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q595K|PDE4DIP_uc001eme.1_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	432					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTTGTTCCTGGGTTCGAATCT	0.441000			T	PDGFRB	MPD									485			15		0	0	6.4e-05	0	0
GTSE1	51512	broad.mit.edu	37	22	46712273	46712274	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:46712273_46712274CC>AA	uc011aqy.2	+	6	1608_1609	c.1396_1397CC>AA	c.(1396-1398)cct>AAt	p.P466N	GTSE1_uc011aqz.2_Missense_Mutation_p.P313N|GTSE1_uc003bhl.1_Missense_Mutation_p.P91N|GTSE1_uc003bhm.1_Missense_Mutation_p.P91N	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	447					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TATGCCTACTCCTACAAATCAA	0.322000														300			10		0	0	6.4e-05	0	0
VTI1A	143187	broad.mit.edu	37	10	114224329	114224329	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:114224329C>T	uc001kzz.3	+	2	553	c.177C>T	c.(175-177)gtC>gtT	p.V59V	VTI1A_uc001kzy.3_Silent_p.V59V	NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1A (yeast) (VTI1A), mRNA.	59					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	SNAP receptor activity|protein transporter activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		ATTTGGAAGTCCGAGAGATAC	0.378000			T	TCF7L2	colorectal									4			5		0	0	8.12818e-05	0	0
MIR891B	100126304	broad.mit.edu	37	X	145082635	145082635	+	RNA	SNP	T	C	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:145082635T>C	uc022cfs.1	-	0		c.15A>G								Homo sapiens microRNA 891b (MIR891B), microRNA.																		CTCAGGTAAGTTGCAAGGATT	0.353000														39			28		0	0	0.000227799	0	0
CENPI	2491	broad.mit.edu	37	X	100364500	100364501	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:100364500_100364501CC>AA	uc004egx.3	+	3	673_674	c.403_404CC>AA	c.(403-405)cca>AAa	p.P135K	CENPI_uc011mrg.2_Missense_Mutation_p.P135K|CENPI_uc004egy.3_Missense_Mutation_p.P135K	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	135					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GTGCATGATCCCAGCAACAGTA	0.381000														158			7		0	0	6.4e-05	0	0
PCCB	5096	broad.mit.edu	37	3	136002690	136002691	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:136002690_136002691GG>AA	uc011bmc.2	+	6	666_667	c.615_616GG>AA	c.(613-618)acggca>acAAca	p.A206T	PCCB_uc003eqz.1_Missense_Mutation_p.A186T|PCCB_uc003eqy.2_Missense_Mutation_p.A186T|PCCB_uc011bmd.1_Missense_Mutation_p.A103T	NM_001178014	NP_001171485	P05166	PCCB_HUMAN	Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	186	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GGAATGTTACGGCATCCGGAGT	0.455000														29			8		0	0	6.4e-05	0	0
SOGA1	140710	broad.mit.edu	37	20	35444105	35444105	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:35444105G>A	uc021wcx.1	-	4	2080	c.1740C>T	c.(1738-1740)atC>atT	p.I580I	SOGA1_uc002xgd.1_Silent_p.I342I	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	342										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGAGCTCGCCGATCTGCAGCT	0.647000														7			6		0	0	3.59834e-05	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70740419	70740419	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:70740419G>A	uc001dex.4	-	10	1704	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	ANKRD13C_uc009wbk.3_Missense_Mutation_p.P425S	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	460					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATCCCTAAGGGAAATTCCTGG	0.383000														48			80		0	0	0.000147903	0	0
RIMS2	9699	broad.mit.edu	37	8	105001569	105001569	+	Silent	SNP	T	G	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:105001569T>G	uc003yls.3	+	14	2539	c.2298T>G	c.(2296-2298)acT>acG	p.T766T	RIMS2_uc003ylp.3_Silent_p.T988T|RIMS2_uc003ylw.2_Silent_p.T780T|RIMS2_uc003ylq.3_Silent_p.T780T|RIMS2_uc003ylr.3_Silent_p.T827T	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1050					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGACCCGCACTATGACCGGAC	0.383000										HNSCC(12;0.0054)				53			15		0	0	0.000422831	0	0
INTS8	55656	broad.mit.edu	37	8	95888484	95888485	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:95888484_95888485GG>TT	uc003yhb.3	+	24	2924_2925	c.2798_2799GG>TT	c.(2797-2799)tgg>tTT	p.W933F	INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.W743F	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	933					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GACTACATATGGGATGTTACCA	0.297000														397			10		0	0	6.4e-05	0	0
CRHBP	1393	broad.mit.edu	37	5	76264654	76264654	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:76264654G>A	uc003ker.3	+	6	1193	c.913G>A	c.(913-915)Gag>Aag	p.E305K		NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	305					female pregnancy|learning or memory|signal transduction	soluble fraction		p.E305K(2)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGAGCCGTACGAGCTGGAAAA	0.453000														50			12		0	0	0.00010058	0	0
MEIS2	4212	broad.mit.edu	37	15	37385869	37385869	+	Silent	SNP	G	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:37385869G>T	uc001zjr.3	-	5	1626	c.552C>A	c.(550-552)ccC>ccA	p.P184P	MEIS2_uc001zjl.3_Silent_p.P171P|MEIS2_uc010ucj.2_Silent_p.P171P|MEIS2_uc001zjm.3_Silent_p.P96P|MEIS2_uc001zjn.3_Silent_p.P38P|MEIS2_uc001zjo.3_Silent_p.P184P|MEIS2_uc001zjp.3_Silent_p.P184P|MEIS2_uc001zjs.3_Silent_p.P184P|MEIS2_uc001zju.3_Silent_p.P171P|MEIS2_uc001zjt.3_Silent_p.P184P	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	184					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CGAGGTCGATGGGCATTTTCC	0.483000														110			7		0.000157383	0.00351522	0.000157383	1	0
MPP4	58538	broad.mit.edu	37	2	202519625	202519625	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:202519625C>T	uc002uyk.4	-	17	1524	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	MPP4_uc002uyi.4_Missense_Mutation_p.G57E|MPP4_uc010ftj.3_Missense_Mutation_p.G432E|MPP4_uc010zhq.2_Missense_Mutation_p.G408E|MPP4_uc010zht.2_Missense_Mutation_p.G381E|MPP4_uc010zhr.2_Missense_Mutation_p.G415E|MPP4_uc010zhs.2_Missense_Mutation_p.G364E|MPP4_uc002uyj.4_Missense_Mutation_p.G404E|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.G395E	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	439	Guanylate kinase-like.					cytoplasm	protein binding	p.G439K(3)|p.G439E(3)|p.G439R(1)		kidney(1)|lung(11)	12						CTCATTTACTCCAACACCAGA	0.353000														8			5		0	0	3.59834e-05	0	0
HELQ	113510	broad.mit.edu	37	4	84353404	84353404	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:84353404G>A	uc003hom.3	-	9	2244	c.2065C>T	c.(2065-2067)Ccc>Tcc	p.P689S	HELQ_uc010ikb.3_Missense_Mutation_p.P622S|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	689	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GCAACATAGGGAGCTCTTAAA	0.318000								Other identified genes with known or suspected DNA repair function						31			27		0	0	0.000339439	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51044096	51044096	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:51044096G>A	uc003bmx.3	+	7	2062	c.1945G>A	c.(1945-1947)Ggg>Agg	p.G649R	MAPK8IP2_uc003bmy.3_Missense_Mutation_p.G622R|MAPK8IP2_uc011asc.2_Missense_Mutation_p.G4R	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	650	SH3.				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATGCGCACGGGGGAGCGCGG	0.657000														30			5		0	0	0.000602214	0	0
OR7D4	125958	broad.mit.edu	37	19	9325375	9325375	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:9325375G>A	uc002mla.2	-	0	173	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CTGACGGCCAGAATGATGAGC	0.557000														33			13		0	0	0.000308642	0	0
ACOX3	8310	broad.mit.edu	37	4	8417561	8417561	+	Missense_Mutation	SNP	G	A	A	rs148322745		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:8417561G>A	uc010idk.3	-	2	455	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	ACOX3_uc003glc.4_Missense_Mutation_p.P104S|ACOX3_uc003gld.4_Missense_Mutation_p.P104S	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	104					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						ATCAAGGCGGGGACCTTCAGA	0.542000														38			21		0	0	0.000295444	0	0
FCHSD2	9873	broad.mit.edu	37	11	72553733	72553734	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:72553733_72553734GG>TT	uc009ytl.3	-	16	2079_2080	c.1858_1859CC>AA	c.(1858-1860)cca>AAa	p.P620K	FCHSD2_uc010rrg.2_Missense_Mutation_p.P484K|FCHSD2_uc001oth.4_Missense_Mutation_p.P564K|ATG16L2_uc009ytj.2_3'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	620	SH3 2.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TAGCACCGATGGGAAAACTCCA	0.441000														271			10		0	0	6.4e-05	0	0
MALAT1	378938	broad.mit.edu	37	11	65266106	65266106	+	RNA	SNP	T	C	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:65266106T>C	uc010roh.2	+	0		c.874T>C								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		AGTTGCGTAATGGAAAGTAAA	0.483000														29			8		0	0	0.000274275	0	0
TGM2	7052	broad.mit.edu	37	20	36758746	36758746	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:36758746C>T	uc002xhr.3	-	12	2039	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	TGM2_uc002xhq.3_Missense_Mutation_p.E248K|TGM2_uc010zvx.2_Missense_Mutation_p.E566K|TGM2_uc010zvy.2_Missense_Mutation_p.E587K	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	647					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACCTTAACTTCCTCCCCTGCC	0.637000														10			5		0	0	0.000602214	0	0
CTSA	5476	broad.mit.edu	37	20	44520573	44520573	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:44520573G>A	uc002xqh.3	+	2	641	c.267G>A	c.(265-267)aaG>aaA	p.K89K	NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqj.4_Silent_p.K71K|CTSA_uc010zxi.2_Silent_p.K89K|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	71					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGTCCCAGAAGGATCCCGAGA	0.652000											OREG0025986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			20		0	0	0.000229342	0	0
CMYA5	202333	broad.mit.edu	37	5	79025256	79025256	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:79025256G>A	uc003kgc.3	+	1	740	c.668G>A	c.(667-669)gGa>gAa	p.G223E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	223						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTCTACATAGGAACAGTACAA	0.318000														34			15		0	0	0.000132079	0	0
ABCB1	5243	broad.mit.edu	37	7	87160746	87160746	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:87160746G>A	uc003uiz.2	-	21	3042	c.2549C>T	c.(2548-2550)tCc>tTc	p.S850F	ABCB1_uc011khc.2_Missense_Mutation_p.S786F	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	850	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATAGATGAAGGATATAATTAT	0.358000														22			12		0	0	6.40141e-05	0	0
TRPM5	29850	broad.mit.edu	37	11	2427989	2427989	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:2427989G>A	uc010qxl.2	-	20	3162	c.3153C>T	c.(3151-3153)gtC>gtT	p.V1051V	TRPM5_uc001lwm.4_Silent_p.V1051V|TRPM5_uc009ydn.3_Silent_p.V1053V	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	1051						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCAGGTGACGACCTTCTGGT	0.617000														113			40		0	0	0.000509022	0	0
BPIFB2	80341	broad.mit.edu	37	20	31608184	31608184	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:31608184G>A	uc002wyj.3	+	11	1325	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	377						extracellular region	lipid binding	p.G377G(1)									AGCTTCAGGGGACCACGTCTG	0.602000														19			19		0	0	0.000132079	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497957	20497957	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr16:20497957G>A	uc010bwe.3	+	14	1930	c.1691G>A	c.(1690-1692)cGa>cAa	p.R564Q	ACSM2A_uc002dhf.4_Missense_Mutation_p.R564Q|ACSM2A_uc002dhg.4_Missense_Mutation_p.R564Q|ACSM2A_uc010vay.2_Missense_Mutation_p.R485Q|ACSM2A_uc002dhh.4_Missense_Mutation_p.R194Q|AX747287_uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	564					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCCAAGCTTCGAGACAAGGAG	0.463000														24			32		0	0	0.000159656	0	0
PLIN4	729359	broad.mit.edu	37	19	4510880	4510880	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:4510880G>A	uc002mar.1	-	2	3050	c.3050C>T	c.(3049-3051)tCc>tTc	p.S1017F	PLIN4_uc010dub.1_Missense_Mutation_p.S41F	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	1017						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GAGCCCAGCGGACACTGCGTC	0.642000														25			19		0	0	9.7654e-05	0	0
OR4N5	390437	broad.mit.edu	37	14	20612119	20612119	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:20612119C>T	uc010tla.2	+	0	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CCTACTCCTTCATTGTGGTTC	0.463000														21			17		0	0	7.07596e-05	0	0
OR2G6	391211	broad.mit.edu	37	1	248685145	248685145	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:248685145C>T	uc001ien.1	+	0	198	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGCAACCTCTCGTGTGTGG	0.502000														24			12		0	0	6.40141e-05	0	0
HUWE1	10075	broad.mit.edu	37	X	53592178	53592178	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:53592178T>C	uc004dsp.3	-	49	7132	c.6730A>G	c.(6730-6732)Aat>Gat	p.N2244D	HUWE1_uc004dsn.3_Missense_Mutation_p.N1068D	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2244					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.D2243D(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGAGCAGCATTGACTGTGTTG	0.453000														15			8		0	0	0.000274275	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635418	122635418	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:122635418G>T	uc003vkl.1	-	0	337	c.271C>A	c.(271-273)Ctt>Att	p.L91I		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	91					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGAATGTAAGGATATTAAAA	0.378000														8			7		2.0095e-06	4.54475e-05	8.12818e-05	1	0
IRX2	153572	broad.mit.edu	37	5	2748559	2748559	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:2748559C>T	uc003jda.3	-	2	1505	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L	IRX2_uc003jdb.3_Silent_p.L421L	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	421						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCGCGGTGTGCAGGGCCTCGC	0.711000														26			17		0	0	7.07596e-05	0	0
NAP1L4	4676	broad.mit.edu	37	11	2991099	2991100	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:2991099_2991100GG>TT	uc010qxm.2	-	7	751_752	c.467_468CC>AA	c.(466-468)ccc>cAA	p.P156Q	NAP1L4_uc001lxc.3_Missense_Mutation_p.P156Q|NAP1L4_uc010qxn.2_Missense_Mutation_p.P156Q	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	156					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		GAATTCCTTTGGGATCTGGCTC	0.406000														337			11		0	0	6.4e-05	0	0
ZNF205	7755	broad.mit.edu	37	16	3169723	3169723	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr16:3169723C>G	uc002cub.3	+	6	1197	c.1062C>G	c.(1060-1062)caC>caG	p.H354Q	ZNF205_uc002cua.3_Missense_Mutation_p.H354Q	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						TCATCCAGCACCAGATCATCC	0.672000														34			11		0	0	0.000219431	0	0
G6PD	2539	broad.mit.edu	37	X	153760419	153760419	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:153760419G>A	uc004fly.1	-	11	1554	c.1441C>T	c.(1441-1443)Ccc>Tcc	p.P481S	G6PD_uc004flx.1_Missense_Mutation_p.P511S	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	481					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAAATATAGGGGATGGGCTTG	0.622000														9			8		0	0	6.40141e-05	0	0
DBR1	51163	broad.mit.edu	37	3	137882313	137882314	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:137882313_137882314GG>TT	uc003erv.3	-	6	972_973	c.818_819CC>AA	c.(817-819)ccc>cAA	p.P273Q	DBR1_uc003eru.3_Missense_Mutation_p.P222Q|DBR1_uc003ert.3_Missense_Mutation_p.P41Q	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	273						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CAGGAGCACTGGGGTCATGTTC	0.337000														219			8		0	0	6.4e-05	0	0
AK310441	0	broad.mit.edu	37	1	148882276	148882276	+	RNA	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:148882276G>A	uc009wkv.1	+	3		c.305G>A								Homo sapiens cDNA, FLJ17483.																		TTTGGCCAAGGAGCAGAAGGA	0.353000														116			21		0	0	0.000117367	0	0
OR6V1	346517	broad.mit.edu	37	7	142749899	142749899	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:142749899G>A	uc011ksv.2	+	0	462	c.462G>A	c.(460-462)atG>atA	p.M154I		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCCTAGCCATGGTACCCACTG	0.567000														45			25		0	0	9.22233e-05	0	0
SLC13A1	6561	broad.mit.edu	37	7	122774551	122774551	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:122774551C>T	uc003vkm.3	-	7	870	c.845G>A	c.(844-846)gGa>gAa	p.G282E	SLC13A1_uc010lks.3_Missense_Mutation_p.G158E	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	282						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AAACCATGATCCAAAGTTGAG	0.448000														39			9		0	0	3.86212e-05	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093675	69093675	+	Missense_Mutation	SNP	C	T	T	rs140417405		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:69093675C>T	uc003hdw.4	-	9	1341	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	402	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AGAAGTCACTCGAGTATAGAC	0.398000														25			5		0	0	3.59834e-05	0	0
CDKL5	6792	broad.mit.edu	37	X	18646512	18646512	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:18646512C>T	uc004cym.3	+	17	2771	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	CDKL5_uc004cyn.3_Missense_Mutation_p.R840C|CDKL5_uc022btn.1_Missense_Mutation_p.R831C	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	840					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	p.R840R(1)		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)					AAAATCACTGCGCAAGTTGTT	0.493000														180			90		0	0	0.000147903	0	0
PLSCR2	57047	broad.mit.edu	37	3	146167065	146167065	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:146167065G>A	uc021xfa.1	-	7	1232	c.792C>T	c.(790-792)aaC>aaT	p.N264N	PLSCR2_uc003evw.2_Silent_p.N260N|PLSCR2_uc003evv.2_Silent_p.N191N	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	191					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						GGATTCCAAAGTTGTCAGCAT	0.393000														40			43		0	0	0.000509022	0	0
DECR1	1666	broad.mit.edu	37	8	91029411	91029411	+	Silent	SNP	C	T	T	rs72124473		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:91029411C>T	uc003yek.1	+	1	270	c.129C>T	c.(127-129)ttC>ttT	p.F43F	DECR1_uc011lgc.1_Silent_p.F34F|DECR1_uc011lgd.1_Intron	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	43					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AATCTAAATTCTTTTCACCTC	0.333000														41			16		0	0	7.07596e-05	0	0
PNPLA3	80339	broad.mit.edu	37	22	44342112	44342112	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr22:44342112C>T	uc003bei.1	+	8	1469	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	PNPLA3_uc010gzm.1_Intron	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	Homo sapiens patatin-like phospholipase domain containing 3 (PNPLA3), mRNA.	432					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CTCCCTGCTCCCCCAAGGGCT	0.597000											OREG0026623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			29		0	0	0.000147802	0	0
FAM209B	388799	broad.mit.edu	37	20	55099991	55099991	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:55099991C>T	uc002xxx.3	+	0	207	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	GCNT7_uc010zzg.1_Intron|FAM209B_uc010zzh.2_Missense_Mutation_p.R43W	NM_001012971	NP_001012989	Q5JX69	CT107_HUMAN	Homo sapiens family with sequence similarity 209, member A (FAM209A), mRNA.	43						integral to membrane											AGAGCACTTTCGGATTCGGCA	0.512000														72			21		0	0	0.000229342	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682809	140682809	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:140682809G>A	uc003ljf.3	-	0	804	c.624C>T	c.(622-624)ggC>ggT	p.G208G		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	208					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AATGGACAGGGCCTAGTTCAT	0.428000														34			21		0	0	0.000295444	0	0
MARCH10	162333	broad.mit.edu	37	17	60799913	60799913	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:60799913C>T	uc010dds.3	-	8	2549	c.2264G>A	c.(2263-2265)gGc>gAc	p.G755D	MARCH10_uc010ddr.3_Missense_Mutation_p.G717D|MARCH10_uc002jag.4_Missense_Mutation_p.G717D|MARCH10_uc002jah.2_Missense_Mutation_p.G716D|BC037347_uc002jaj.1_Intron|BC037347_uc002jak.3_Intron	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	717							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AACCAGCAGGCCTTGCTTACA	0.438000														16			12		0	0	0.000308642	0	0
C5orf49	134121	broad.mit.edu	37	5	7832061	7832061	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:7832061C>T	uc003jea.4	-	2	476	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN	Homo sapiens chromosome 5 open reading frame 49 (C5orf49), mRNA.	116										large_intestine(3)|lung(5)|skin(1)	9						CGGCCAAAGTCCCGGTTTAGG	0.547000														26			9		0	0	0.000442599	0	0
HIBADH	11112	broad.mit.edu	37	7	27689129	27689130	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:27689129_27689130GG>TT	uc003szf.3	-	1	427_428	c.214_215CC>AA	c.(214-216)cct>AAt	p.P72N	HIBADH_uc003szg.3_Missense_Mutation_p.P23N|HIBADH_uc003szi.3_Missense_Mutation_p.P23N	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	72					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	GCAGGCATCAGGGAACACATCA	0.356000														275			9		0	0	6.4e-05	0	0
LEPR	3953	broad.mit.edu	37	1	66083654	66083654	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:66083654C>T	uc001dci.3	+	15	2609	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	LEPR_uc001dcg.3_Silent_p.I740I|LEPR_uc001dch.3_Silent_p.I740I|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Silent_p.I740I|LEPR_uc001dcj.3_Silent_p.I740I|LEPR_uc001dck.3_Silent_p.I740I	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	740	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAGTAAATATCGTGCAGTCAC	0.303000														18			20		0	0	0.000229342	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212241	26212241	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:26212241G>T	uc022buc.1	+	0	278	c.278G>T	c.(277-279)aGt>aTt	p.S93I	MAGEB6_uc004dbr.3_Missense_Mutation_p.S93I	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	93	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GATGAGAAAAGTCCAAGCACC	0.522000														44			19		6.94344e-10	1.58029e-08	7.07596e-05	1	0
CD163	9332	broad.mit.edu	37	12	7651771	7651771	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:7651771C>T	uc001qsz.3	-	3	599	c.471G>A	c.(469-471)ttG>ttA	p.L157L	CD163_uc001qta.3_Silent_p.L157L|CD163_uc009zfw.2_Silent_p.L157L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	157					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCCTCATTTCCAAATTGGATC	0.413000														72			12		0	0	0.000219431	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864632	131864632	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:131864632G>A	uc003vra.4	-	19	3917	c.3688C>T	c.(3688-3690)Ccg>Tcg	p.P1230S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1230	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGCTGTCCGGGGCAATGTAC	0.637000														10			9		0	0	3.86212e-05	0	0
CHRDL1	91851	broad.mit.edu	37	X	109931894	109931894	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:109931894G>A	uc004eou.4	-	8	1265	c.916C>T	c.(916-918)Cga>Tga	p.R306*	CHRDL1_uc004eov.3_Nonsense_Mutation_p.R300*|CHRDL1_uc004eow.3_Nonsense_Mutation_p.R305*|CHRDL1_uc010nps.3_Nonsense_Mutation_p.R305*|CHRDL1_uc011mss.2_Nonsense_Mutation_p.R226*	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	299	VWFC 3.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CAGGGGTATCGATTGGGGCAG	0.483000														37			31		0	0	0.000409698	0	0
ADH1A	124	broad.mit.edu	37	4	100201389	100201389	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr4:100201389G>A	uc003hur.2	-	6	990	c.876C>T	c.(874-876)atC>atT	p.I292I	LOC100507053_uc003hum.2_Intron	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	292					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GTACCCCTACGATGACACTTG	0.458000														26			20		0	0	0.000175454	0	0
DGKZ	8525	broad.mit.edu	37	11	46392868	46392868	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:46392868C>T	uc001ncn.1	+	7	1265	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	DGKZ_uc001nch.2_Silent_p.F208F|DGKZ_uc010rgq.2_Silent_p.F174F|DGKZ_uc010rgr.2_Silent_p.F196F|DGKZ_uc001ncj.2_Silent_p.F158F|DGKZ_uc001nck.2_5'UTR|DGKZ_uc001ncm.2_Silent_p.F191F|DGKZ_uc001ncl.2_Silent_p.F192F|DGKZ_uc009yky.1_Silent_p.F192F|DGKZ_uc010rgs.1_Silent_p.F169F	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	380					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CTCAGGGATTCCAGCAGAAGT	0.642000														42			15		0	0	7.07596e-05	0	0
BAI1	575	broad.mit.edu	37	8	143570442	143570442	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:143570442G>A	uc003ywm.3	+	13	2682	c.2499G>A	c.(2497-2499)agG>agA	p.R833R		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	833					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.R833M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGCTCTACAGGAACCTGGGCA	0.672000														8			4		0	0	0.00024832	0	0
COBL	23242	broad.mit.edu	37	7	51096770	51096770	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:51096770C>T	uc003tps.3	-	10	2379	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	COBL_uc003tpr.4_Missense_Mutation_p.D675N|COBL_uc011kcl.2_Missense_Mutation_p.D675N|COBL_uc003tpp.4_Missense_Mutation_p.D461N|COBL_uc003tpq.4_Missense_Mutation_p.D616N|COBL_uc003tpo.4_Missense_Mutation_p.D217N	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	675										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCGTTGCTGTCCTTTTCATTC	0.493000														54			20		0	0	0.000586117	0	0
MTMR12	54545	broad.mit.edu	37	5	32235160	32235160	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:32235160C>T	uc003jhq.3	-	13	1590	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	MTMR12_uc010iuk.3_Missense_Mutation_p.E474K|MTMR12_uc010iul.3_Intron	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	474	Interaction with MTM1.|Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGGTAAGTCTCTGTGAATTCA	0.418000														30			47		0	0	0.000147903	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170129	32170129	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr6:32170129G>A	uc003obb.3	-	20	3618	c.3479C>T	c.(3478-3480)tCc>tTc	p.S1160F	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1160	EGF-like 29.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGAGGGCAGGAGCATCGAAA	0.652000														32			30		0	0	0.000279167	0	0
DSCAM	1826	broad.mit.edu	37	21	41416118	41416118	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr21:41416118G>A	uc002yyq.1	-	30	5722	c.5270C>T	c.(5269-5271)cCc>cTc	p.P1757L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1757					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGAGATGGTGGGGTGGGGTCG	0.607000														12			6		0	0	0.000157383	0	0
LIPH	200879	broad.mit.edu	37	3	185241875	185241876	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:185241875_185241876GG>TT	uc003fpm.3	-	4	811_812	c.701_702CC>AA	c.(700-702)ccc>cAA	p.P234Q	LIPH_uc010hyh.3_Missense_Mutation_p.P200Q	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	234					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ATATTGTTTTGGGGCAGCCAGG	0.421000														238			8		0	0	6.4e-05	0	0
CACNA1C	775	broad.mit.edu	37	12	2797832	2797832	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:2797832G>A	uc009zdu.1	+	48	6566	c.6253G>A	c.(6253-6255)Ggc>Agc	p.G2085S	CACNA1C_uc001qkc.2_Missense_Mutation_p.G2021S|CACNA1C_uc001qjz.2_Missense_Mutation_p.G2002S|CACNA1C_uc001qkd.2_Missense_Mutation_p.G2021S|CACNA1C_uc001qke.2_Missense_Mutation_p.G1991S|CACNA1C_uc001qkf.2_Missense_Mutation_p.G2010S|CACNA1C_uc009zdw.1_Missense_Mutation_p.G2043S|CACNA1C_uc001qkg.2_Missense_Mutation_p.G2008S|CACNA1C_uc001qkh.2_Missense_Mutation_p.G2010S|CACNA1C_uc001qkl.2_Missense_Mutation_p.G2050S|CACNA1C_uc001qkj.2_Missense_Mutation_p.G2037S|CACNA1C_uc001qkk.2_Missense_Mutation_p.G2002S|CACNA1C_uc001qkn.2_Missense_Mutation_p.G2002S|CACNA1C_uc001qkm.2_Missense_Mutation_p.G2062S|CACNA1C_uc001qko.2_Missense_Mutation_p.G2022S|CACNA1C_uc001qkp.2_Missense_Mutation_p.G2002S|CACNA1C_uc001qkq.2_Missense_Mutation_p.G2030S|CACNA1C_uc001qku.2_Missense_Mutation_p.G2037S|CACNA1C_uc001qkr.2_Missense_Mutation_p.G2019S|CACNA1C_uc001qks.2_Missense_Mutation_p.G2002S|CACNA1C_uc001qkt.2_Missense_Mutation_p.G2021S|CACNA1C_uc009zdv.1_Missense_Mutation_p.G1999S|CACNA1C_uc001qkb.2_Missense_Mutation_p.G2002S|CACNA1C_uc001qki.1_Missense_Mutation_p.G1809S|CACNA1C_uc010sea.1_Missense_Mutation_p.G693S|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.G320S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	2085	Poly-Gly.				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CACCCCCGGTGGCGGGGGCAG	0.706000														8			8		0	0	0.000442599	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:72413896A>G	uc003twk.2	+	10	3364	c.3364A>G	c.(3364-3366)Acc>Gcc	p.T1122A	POM121_uc003twj.3_Missense_Mutation_p.T857A|POM121_uc010lam.1_Missense_Mutation_p.T857A	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1122	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000														11			3		0	0	6.4e-05	0	0
ASPM	259266	broad.mit.edu	37	1	197112543	197112543	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:197112543G>A	uc001gtu.3	-	2	1096	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ASPM_uc001gtv.3_Missense_Mutation_p.S280F|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	280					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGAATTAAAGGAAGTTTCAGT	0.343000														49			15		0	0	0.000308642	0	0
C10orf2	56652	broad.mit.edu	37	10	102749036	102749036	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:102749036C>T	uc001ksf.2	+	0	1744	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.R357C|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	357			R -> P (in PEOA3).		cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCGTATTCTTCGTACCGCCCT	0.567000														23			9		0	0	0.000274275	0	0
C7orf58	79974	broad.mit.edu	37	7	120906284	120906284	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:120906284C>T	uc003vjq.4	+	18	2761	c.2314C>T	c.(2314-2316)Ctg>Ttg	p.L772L		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	772						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CTTATAGATTCTGTTCATTGG	0.323000														15			13		0	0	0.00010058	0	0
CD1B	910	broad.mit.edu	37	1	158299825	158299825	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:158299825G>T	uc001frx.3	-	2	532	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	CD1B_uc001frw.3_Missense_Mutation_p.L142M	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	142					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.F141F(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTGACACTCAGGAAATCCAAT	0.488000														108			7		0.000274275	0.00610708	0.000274275	1	0
FATE1	89885	broad.mit.edu	37	X	150889962	150889962	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:150889962C>T	uc004fex.3	+	2	414	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	110						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCATACGTTTCCATTATGATC	0.602000														13			10		0	0	0.000442599	0	0
SOX5	6660	broad.mit.edu	37	12	23893916	23893916	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:23893916A>T	uc001rfw.3	-	4	728	c.626T>A	c.(625-627)cTg>cAg	p.L209Q	SOX5_uc001rfx.3_Missense_Mutation_p.L196Q|SOX5_uc001rfy.3_Missense_Mutation_p.L196Q|SOX5_uc010siv.2_Missense_Mutation_p.L196Q|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.L161Q	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	209					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GAGGCTGGTCAGCTGGTTGAT	0.468000														10			8		0	0	0.000157383	0	0
NBEAL1	65065	broad.mit.edu	37	2	203972199	203972200	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:203972199_203972200GG>TT	uc002uzt.3	+	11	1572_1573	c.1239_1240GG>TT	c.(1237-1242)ctgggt>ctTTgt	p.G414C		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	414							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAAAATCCCTGGGTCAGCCACC	0.307000														368			10		0	0	6.4e-05	0	0
OR5M3	219482	broad.mit.edu	37	11	56237838	56237838	+	Silent	SNP	A	G	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:56237838A>G	uc010rjk.2	-	0	177	c.136T>C	c.(136-138)Tta>Cta	p.L46L	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ACCTTGATTAACACCATCATG	0.438000														23			5		0	0	8.12818e-05	0	0
THADA	63892	broad.mit.edu	37	2	43808935	43808936	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:43808935_43808936GG>TT	uc002rsw.4	-	7	1017_1018	c.665_666CC>AA	c.(664-666)ccc>cAA	p.P222Q	THADA_uc002rsx.4_Missense_Mutation_p.P222Q|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.P222Q|THADA_uc002rtc.4_Missense_Mutation_p.P222Q|THADA_uc002rtd.3_Missense_Mutation_p.P222Q	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	222							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTTGCCATATGGGAGAATCGGA	0.337000														293			11		0	0	6.4e-05	0	0
WWC3	55841	broad.mit.edu	37	X	10106812	10106812	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:10106812C>T	uc004csx.4	+	20	3118	c.2920C>T	c.(2920-2922)Cag>Tag	p.Q974*	WWC3_uc010nds.3_Nonsense_Mutation_p.Q638*|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	974										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GCTGGATCTCCAGGCGTCGAG	0.652000														18			5		0	0	0.000602214	0	0
COL4A5	1287	broad.mit.edu	37	X	107911611	107911611	+	Missense_Mutation	SNP	G	A	A	rs104886391		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:107911611G>A	uc022ccg.1	+	40	3869	c.3667G>A	c.(3667-3669)Ggc>Agc	p.G1223S	COL4A5_uc004enz.1_Missense_Mutation_p.G1223S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1223	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGTCCAAAGGGCGAACCAGG	0.532000									Alport syndrome with Diffuse Leiomyomatosis					16			6		0	0	3.59834e-05	0	0
PHF14	9678	broad.mit.edu	37	7	11209072	11209072	+	Silent	SNP	T	C	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:11209072T>C	uc011jxj.2	+	16	2466	c.1947T>C	c.(1945-1947)aaT>aaC	p.N649N	PHF14_uc003ssa.3_Non-coding_Transcript			O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 4, non-coding RNA.	792							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AAAGAAAAAATATATCTCAGG	0.269000														30			11		0	0	0.000151284	0	0
CEP72	55722	broad.mit.edu	37	5	637700	637700	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:637700C>T	uc003jbf.3	+	6	1045	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	325					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GGTGCCTGGTCCCCTGCCAGC	0.562000														9			10		0	0	3.86212e-05	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348853	30348853	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:30348853G>A	uc002hgu.3	+	0	699	c.688G>A	c.(688-690)Gac>Aac	p.D230N	LRRC37B_uc010wbx.2_Missense_Mutation_p.D148N|LRRC37B_uc010csu.3_Missense_Mutation_p.D230N	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	230						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTTGAGTATGGACACACTGTA	0.498000														65			32		0	0	0.000491102	0	0
ATP4A	495	broad.mit.edu	37	19	36047894	36047894	+	Missense_Mutation	SNP	G	A	A	rs138327542		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:36047894G>A	uc002oal.1	-	11	1819	c.1790C>T	c.(1789-1791)gCg>gTg	p.A597V	ATP4A_uc010eee.1_Intron	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	597					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TACAAGTCCCGCAAAGCAGAG	0.587000														24			14		0	0	0.000308642	0	0
ZNF670	93474	broad.mit.edu	37	1	247201303	247201303	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:247201303G>A	uc001icd.2	-	3	835	c.618C>T	c.(616-618)ttC>ttT	p.F206F	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Silent_p.F205F	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA.	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TTGAATAATTGAAGGCTTTAT	0.343000														35			12		0	0	6.40141e-05	0	0
WDR96	80217	broad.mit.edu	37	10	105926335	105926335	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:105926335T>C	uc001kxw.3	-	22	3066	c.2950A>G	c.(2950-2952)Act>Gct	p.T984A	WDR96_uc009xxq.3_Missense_Mutation_p.T292A	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	984										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCAAAATCAGTACTCAGACTA	0.373000														38			11		0	0	6.40141e-05	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45711340	45711340	+	Missense_Mutation	SNP	G	A	A	rs34168608	byFrequency	TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:45711340G>A	uc001wwf.3	-	3	1499	c.1040C>T	c.(1039-1041)cCa>cTa	p.P347L	MIS18BP1_uc010anh.2_Non-coding_Transcript	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	347			P -> R (in dbSNP:rs34168608).		CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATGAAGTCTTGGTGTTGCAAG	0.353000														61			12		0	0	0.000219431	0	0
UBN1	29855	broad.mit.edu	37	16	4922917	4922917	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr16:4922917G>A	uc002cyb.3	+	12	2078	c.1739G>A	c.(1738-1740)gGg>gAg	p.G580E	UBN1_uc010uxw.2_Missense_Mutation_p.G580E|UBN1_uc002cyc.3_Missense_Mutation_p.G580E	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	580					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CGAGGCCATGGGCACCTGACT	0.468000														31			13		0	0	0.000308642	0	0
UEVLD	55293	broad.mit.edu	37	11	18591901	18591901	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:18591901G>A	uc001mot.3	-	3	297	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	UEVLD_uc001mou.3_Missense_Mutation_p.R73C|UEVLD_uc010rde.2_Intron|UEVLD_uc010rdf.2_Missense_Mutation_p.R51C|UEVLD_uc010rdg.2_Intron|UEVLD_uc001mov.3_Missense_Mutation_p.R51C|UEVLD_uc010rdh.2_Missense_Mutation_p.R73C	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	73	UEV.				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ATCCAGAAACGAATTGGTATG	0.363000														14			8		0	0	0.000157383	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19854289	19854289	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:19854289C>T	uc004czm.3	-	1	432	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	39	SH3 1.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GTTGATCTGTCCCTCCCACCA	0.522000														47			33		0	0	0.000159656	0	0
ZNF808	388558	broad.mit.edu	37	19	53056926	53056926	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:53056926C>T	uc010epq.1	+	4	934	c.757C>T	c.(757-759)Cat>Tat	p.H253Y	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCAGATACCCCATTTAGGAGA	0.393000														83			30		0	0	0.000132358	0	0
MLL3	58508	broad.mit.edu	37	7	151880143	151880144	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:151880143_151880144GG>TT	uc003wla.3	-	34	5399_5400	c.5180_5181CC>AA	c.(5179-5181)ccc>cAA	p.P1727Q	MLL3_uc003wkz.3_Missense_Mutation_p.P788Q	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1727	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TACGAGAGCTGGGATCAATGCT	0.371000			N		medulloblastoma									312			12		0	0	6.4e-05	0	0
SPEF2	79925	broad.mit.edu	37	5	35806995	35806995	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:35806995G>A	uc003jjo.3	+	34	5308	c.5197G>A	c.(5197-5199)Gaa>Aaa	p.E1733K	SPEF2_uc003jjp.1_Missense_Mutation_p.E1219K|SPEF2_uc003jjr.3_Missense_Mutation_p.E788K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1733					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGGGGAAGTGAAGCACAGGA	0.393000														19			9		0	0	3.86212e-05	0	0
HIPK4	147746	broad.mit.edu	37	19	40890035	40890035	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:40890035G>A	uc002onp.3	-	1	762	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	159	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGGCGGATCCGAAGTCAATCA	0.632000														31			19		0	0	0.000175454	0	0
DPP9	91039	broad.mit.edu	37	19	4697661	4697661	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:4697661G>A	uc002mba.3	-	10	1335	c.1077C>T	c.(1075-1077)atC>atT	p.I359I		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	330					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGGTCGAGACGATCTGAAGGG	0.632000														13			5		0	0	0.000602214	0	0
HMGCR	3156	broad.mit.edu	37	5	74645866	74645867	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:74645866_74645867GG>TT	uc011cst.2	+	7	869	c.617_splice	c.e7-1	p.G206_splice	HMGCR_uc003kdp.3_Splice_Site_p.G186_splice|HMGCR_uc003kdq.3_Splice_Site_p.G186_splice|HMGCR_uc010izn.1_Splice_Site_p.G26_splice	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	186					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TCTCTAACCAGGGGTACGTCAG	0.391000														248			12		0	0	6.4e-05	0	0
COL5A1	1289	broad.mit.edu	37	9	137623932	137623933	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:137623932_137623933GG>AA	uc004cfe.3	+	8	1730_1731	c.1348_1349GG>AA	c.(1348-1350)ggc>AAc	p.G450N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	450	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.R449Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGACCTCGGGGCGAGAAAGGC	0.530000														33			8		0	0	6.4e-05	0	0
CXCR4	7852	broad.mit.edu	37	2	136873472	136873472	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:136873472G>A	uc002tuz.3	-	1	121	c.26C>T	c.(25-27)tCa>tTa	p.S9L	CXCR4_uc002tuy.3_Missense_Mutation_p.S13L|CXCR4_uc010fnk.3_5'UTR	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	9	Important for chemokine binding, signaling and HIV-1 coreceptor activity.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GTAGTTATCTGAAGTGTATAT	0.378000														38			12		0	0	0.00010058	0	0
BMX	660	broad.mit.edu	37	X	15554480	15554480	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:15554480G>A	uc004cww.3	+	12	1340	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	BMX_uc004cwx.4_Missense_Mutation_p.M384I|BMX_uc004cwy.4_Missense_Mutation_p.M384I	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	384	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TTGCAGGCATGATCACACGGC	0.453000														40			19		0	0	0.000132079	0	0
NR5A2	2494	broad.mit.edu	37	1	200014572	200014572	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:200014572G>A	uc001gvb.3	+	4	528	c.322_splice	c.e4-1	p.G108_splice	NR5A2_uc001gvc.3_Splice_Site_p.G62_splice|NR5A2_uc009wzh.3_Splice_Site_p.G68_splice|NR5A2_uc010pph.2_Splice_Site_p.G36_splice	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	108					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.G108E(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GTCTTATAGGGATTTTTTAAG	0.338000														18			12		0	0	0.00010058	0	0
CNGA2	1260	broad.mit.edu	37	X	150912081	150912081	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:150912081G>A	uc004fey.1	+	6	1330	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	369					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.V368M(2)|p.G369*(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATCGTGGGAAATGTGGGC	0.512000														33			26		0	0	0.000184323	0	0
KRT32	3882	broad.mit.edu	37	17	39620561	39620561	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:39620561C>T	uc002hwr.3	-	3	904	c.843G>A	c.(841-843)agG>agA	p.R281R		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	281	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.R281S(4)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCTCCACGTCCCTGCGGTTGG	0.617000														17			7		0	0	8.12818e-05	0	0
CYLC2	1539	broad.mit.edu	37	9	105767454	105767454	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:105767454G>A	uc004bbs.2	+	4	611	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	181	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				atctgaagatgaaaaaggagg	0.368000														22			9		0	0	0.000274275	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54696147	54696147	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:54696147C>T	uc003jpy.4	+	20	2645	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V	SKIV2L2_uc011cqi.2_Silent_p.V692V	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	793					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGAAAAAAGTCATTCAGAAAG	0.373000														25			8		0	0	0.000274275	0	0
GNL3L	54552	broad.mit.edu	37	X	54569418	54569418	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:54569418C>T	uc022bxi.1	+	5	593	c.337C>T	c.(337-339)Cct>Tct	p.P113S	GNL3L_uc004dti.3_Non-coding_Transcript|GNL3L_uc004dth.2_Missense_Mutation_p.P113S	NM_001184819	NP_061940	Q9NVN8	GNL3L_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar)-like (GNL3L), transcript variant 1, mRNA.	113					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						AAATATGTTTCCTCAGCTGGA	0.488000														24			5		0	0	0.000602214	0	0
GBP6	163351	broad.mit.edu	37	1	89849796	89849796	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:89849796G>A	uc001dnf.2	+	9	1887	c.1613G>A	c.(1612-1614)aGa>aAa	p.R538K	GBP6_uc010ost.1_Missense_Mutation_p.R408K	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	538							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CAGATGGAGAGAGAACACCTA	0.502000														7			7		0	0	0.000157383	0	0
TGS1	96764	broad.mit.edu	37	8	56698986	56698986	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:56698986A>G	uc003xsj.4	+	3	916	c.529A>G	c.(529-531)Act>Gct	p.T177A	TGS1_uc010lyh.3_Missense_Mutation_p.T81A	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Homo sapiens trimethylguanosine synthase 1 (TGS1), mRNA.	177					RNA capping|cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CAAAAAAGATACTGAGACAGA	0.343000														28			13		0	0	0.000151284	0	0
GPSM2	29899	broad.mit.edu	37	1	109428147	109428148	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:109428147_109428148GG>TT	uc010ovc.2	+	1	499_500	c.3_4GG>TT	c.(1-6)atggag>atTTag	p.1_2ME>I*	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Nonsense_Mutation_p.1_2ME>I*|GPSM2_uc010ove.1_Nonsense_Mutation_p.1_2ME>I*	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	1					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		ATGACTCGATGGAGGAAAATTT	0.307000														447			10		0	0	6.4e-05	0	0
CA9	768	broad.mit.edu	37	9	35674227	35674227	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:35674227G>A	uc003zxo.4	+	0	313	c.271G>A	c.(271-273)Gga>Aga	p.G91R	C9orf100_uc003zxl.3_Non-coding_Transcript	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	91	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGATCTACCTGGAGAGGAGGA	0.537000														7			9		0	0	0.000274275	0	0
PKNOX2	63876	broad.mit.edu	37	11	125281707	125281707	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:125281707C>T	uc001qbu.3	+	9	1196	c.882C>T	c.(880-882)gtC>gtT	p.V294V	PKNOX2_uc010saz.2_Silent_p.V265V|PKNOX2_uc010sba.2_Silent_p.V265V|PKNOX2_uc010sbb.2_Silent_p.V230V|PKNOX2_uc001qbv.3_Silent_p.V59V	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	294						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		AACGAGGAGTCTTGCCCAAGC	0.517000														18			12		0	0	0.000151284	0	0
ZNF711	7552	broad.mit.edu	37	X	84510572	84510572	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:84510572C>T	uc004eeq.3	+	3	1273	c.387C>T	c.(385-387)ttC>ttT	p.F129F	ZNF711_uc004eep.3_Silent_p.F129F|ZNF711_uc004eeo.3_Silent_p.F129F	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	129					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AGCAGGTTTTCGTGGCTGACC	0.448000														52			29		0	0	0.000227799	0	0
FLT3	2322	broad.mit.edu	37	13	28610179	28610179	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr13:28610179C>T	uc001urw.3	-	11	1392	c.1310_splice	c.e11-1	p.R437_splice	FLT3_uc010aao.3_Splice_Site|FLT3_uc010tdn.2_Splice_Site_p.R437_splice	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	437					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGAGGTTTCCCTATAGAAA	0.473000			"""Mis, O"""		"""AML, ALL"""									27			23		0	0	0.00047179	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905886	164905886	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:164905886C>T	uc003fej.4	-	1	3177	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K	SLITRK3_uc003fek.3_Silent_p.K911K|SLITRK3_uc021xgy.1_Silent_p.K911K	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	911						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CGTGCAGTTCCTTTAATTTGG	0.537000										HNSCC(40;0.11)				24			19		0	0	7.07596e-05	0	0
LIFR	3977	broad.mit.edu	37	5	38485927	38485927	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr5:38485927C>T	uc010ive.1	-	16	2823	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	LIFR_uc003jli.2_Missense_Mutation_p.E831K	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	831					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTACAATTTTCCTTTGTCACC	0.468000			T	PLAG1	salivary adenoma									33			5		0	0	3.59834e-05	0	0
SLC12A6	9990	broad.mit.edu	37	15	34544408	34544408	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:34544408G>A	uc001zhw.3	-	8	1460	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	SLC12A6_uc001zhv.3_Silent_p.I381I|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.I417I|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.I373I|SLC12A6_uc001zib.3_Silent_p.I423I|SLC12A6_uc001zic.3_Silent_p.I432I|SLC12A6_uc010bau.3_Silent_p.I432I|SLC12A6_uc001zid.3_Silent_p.I373I|SLC12A6_uc001zht.3_5'Flank|SLC12A6_uc001zhu.3_Silent_p.I244I	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	432					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GAATGCCCTGGATTGAAGTGA	0.398000														18			8		0	0	0.000442599	0	0
RELN	5649	broad.mit.edu	37	7	103205799	103205799	+	Silent	SNP	C	T	T	rs147933593		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:103205799C>T	uc022ajr.1	-	33	5296	c.5136G>A	c.(5134-5136)acG>acA	p.T1712T	RELN_uc022ajq.1_Silent_p.T1712T|RELN_uc010liz.3_Silent_p.T1712T	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1712					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGAACTTTCCGTGTAATGCA	0.468000														23			9		0	0	0.000442599	0	0
CHD6	84181	broad.mit.edu	37	20	40052167	40052168	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr20:40052167_40052168CG>AT	uc002xka.1	-	29	4697_4698	c.4519_4520CG>AT	c.(4519-4521)cgg>ATg	p.R1507M		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1507					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACAGACATTCCGGCACATGGCC	0.421000														384			9		0	0	6.4e-05	0	0
ATL1	51062	broad.mit.edu	37	14	51079995	51079995	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:51079995C>T	uc021rsw.1	+	6	890	c.649C>T	c.(649-651)Cga>Tga	p.R217*	ATL1_uc001wyd.4_Nonsense_Mutation_p.R217*|ATL1_uc001wyf.4_Nonsense_Mutation_p.R217*|ATL1_uc001wye.4_Nonsense_Mutation_p.R217*|ATL1_uc021rsx.1_Nonsense_Mutation_p.R217*	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	217			R -> Q (in SPG3; alters endoplasmic reticulum morphology).		axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						ATTTCTTGTTCGAGACTGGAG	0.368000														21			5		0	0	8.12818e-05	0	0
CACNA1E	777	broad.mit.edu	37	1	181680183	181680183	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:181680183C>T	uc009wxt.3	+	7	1344	c.1149C>T	c.(1147-1149)taC>taT	p.Y383Y	CACNA1E_uc001gow.3_Silent_p.Y383Y|CACNA1E_uc009wxs.3_Silent_p.Y383Y	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	383	Binding to the beta subunit (By similarity).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGAATGGCTACCGTGCCTGGA	0.602000														27			13		0	0	0.00010058	0	0
LRRN1	57633	broad.mit.edu	37	3	3887120	3887120	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:3887120G>A	uc003bpt.4	+	1	1556	c.795G>A	c.(793-795)ttG>ttA	p.L265L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Silent_p.L265L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	265						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCCAAATTTGAAATTCTTAG	0.398000														49			14		0	0	0.000151284	0	0
CCPG1	9236	broad.mit.edu	37	15	55652369	55652369	+	Silent	SNP	T	C	C			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:55652369T>C	uc010bfk.2	-	7	1901	c.1602A>G	c.(1600-1602)agA>agG	p.R534R	CCPG1_uc002acy.3_Silent_p.R534R|CCPG1_uc002acu.2_Silent_p.R390R|CCPG1_uc002acz.2_Silent_p.R534R|CCPG1_uc002acw.2_Silent_p.R259R|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Silent_p.R534R|CCPG1_uc021smu.1_Silent_p.R154R	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	534					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CTTTAAAGTGTCTGAAAGTGG	0.333000														89			38		0	0	0.000109025	0	0
ZIC2	7546	broad.mit.edu	37	13	100635375	100635375	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr13:100635375C>T	uc001von.3	+	0	1350	c.1057C>T	c.(1057-1059)Cac>Tac	p.H353Y		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	353					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I352V(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTCAAGATCCACAAAAGGAC	0.647000														7			7		0	0	8.12818e-05	0	0
SPAM1	6677	broad.mit.edu	37	7	123594244	123594244	+	Missense_Mutation	SNP	G	A	A	rs113752093		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:123594244G>A	uc003vle.3	+	2	1059	c.620G>A	c.(619-621)gGa>gAa	p.G207E	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.G207E|SPAM1_uc022aks.1_Missense_Mutation_p.G207E|SPAM1_uc003vlf.4_Missense_Mutation_p.G207E|SPAM1_uc010lku.3_Missense_Mutation_p.G207E	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	207					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATAAAATTGGGAAAATTACTT	0.383000														10			7		0	0	8.12818e-05	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83320109	83320109	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chrX:83320109G>A	uc004eej.2	-	20	2018	c.1982C>T	c.(1981-1983)tCc>tTc	p.S661F	RPS6KA6_uc011mqt.2_Missense_Mutation_p.S661F|RPS6KA6_uc011mqu.2_Missense_Mutation_p.S558F	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	661	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAGCATATGGGAAAGCAAATC	0.343000														36			15		0	0	0.000219431	0	0
RGP1	9827	broad.mit.edu	37	9	35751265	35751265	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:35751265C>T	uc011lpf.2	+	5	638	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F	GBA2_uc003zxw.3_5'Flank|GBA2_uc011lpd.2_5'Flank|GBA2_uc011lpb.1_5'Flank|GBA2_uc011lpc.1_5'Flank|DQ589555_uc022bgn.1_5'Flank	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	Homo sapiens RGP1 retrograde golgi transport homolog (S. cerevisiae) (RGP1), mRNA.	164										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCTCTAGGCCTTCAGGATGT	0.488000														111			13		0	0	0.000219431	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57457844	57457845	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:57457844_57457845CC>AA	uc001nkx.1	+	5	1851_1852	c.595_596CC>AA	c.(595-597)cct>AAt	p.P199N	ZDHHC5_uc001nky.1_Missense_Mutation_p.P146N|ZDHHC5_uc001nkz.1_Missense_Mutation_p.P13N	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	199						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						ATTCTTCATCCCTGTAGCTGGC	0.525000														160			9		0	0	6.4e-05	0	0
BROX	148362	broad.mit.edu	37	1	222895797	222895798	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:222895797_222895798GG>TT	uc001hnq.1	+	4	737_738	c.342_343GG>TT	c.(340-345)atggga>atTTga	p.114_115MG>I*	BROX_uc010put.1_Intron|BROX_uc010puu.1_Nonsense_Mutation_p.114_115MG>I*|BROX_uc010puv.1_Intron	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Homo sapiens BRO1 domain and CAAX motif containing (BROX), mRNA.	114	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TAATTTCCATGGGATTTAATGT	0.351000														308			8		0	0	6.4e-05	0	0
ICA1L	130026	broad.mit.edu	37	2	203644299	203644300	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:203644299_203644300GG>TT	uc002uzh.1	-	13	1569_1570	c.1405_1406CC>AA	c.(1405-1407)cca>AAa	p.P469K	ICA1L_uc002uzi.1_Missense_Mutation_p.P469K|ICA1L_uc021vvi.1_Non-coding_Transcript	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	469										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATAGCATCTGGGTTTGAAAGT	0.381000														301			8		0	0	6.4e-05	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36039821	36039821	+	Splice_Site	SNP	A	G	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:36039821A>G	uc001wtj.3	-	38	6369	c.5978_splice	c.e38+1	p.F1993_splice	RALGAPA1_uc010amp.3_Splice_Site|RALGAPA1_uc001wti.3_Splice_Site_p.F1993_splice|RALGAPA1_uc010tpv.2_Splice_Site_p.F2006_splice|RALGAPA1_uc010tpw.1_Splice_Site_p.F2040_splice	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1993	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAAAAAGGATACAAGTTTTGA	0.323000														33			6		0	0	0.000157383	0	0
CCDC88C	440193	broad.mit.edu	37	14	91791183	91791183	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr14:91791183C>T	uc010aty.3	-	11	1436	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	428					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGGGCAGATTCGTTCATGCTC	0.572000														36			6		0	0	3.59834e-05	0	0
ZHX1	11244	broad.mit.edu	37	8	124268124	124268124	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:124268124G>A	uc003yqe.3	-	2	673	c.63C>T	c.(61-63)gaC>gaT	p.D21D	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Silent_p.D21D|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Silent_p.D21D|ZHX1_uc022bak.1_Silent_p.D21D	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	21					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCAACTCAAGGTCTGGATCTT	0.428000														64			33		0	0	0.000409698	0	0
MUC16	94025	broad.mit.edu	37	19	9086131	9086131	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:9086131G>A	uc002mkp.3	-	0	5888	c.5684C>T	c.(5683-5685)tCc>tTc	p.S1895F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1895	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAAGTCATGGAAGTGTGAGT	0.493000														26			10		0	0	0.000442599	0	0
SI	6476	broad.mit.edu	37	3	164793789	164793789	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr3:164793789C>T	uc003fei.3	-	1	75	c.12G>A	c.(10-12)aaG>aaA	p.K4K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	4					carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CACTAAATTTCTTTCTTGCCA	0.269000										HNSCC(35;0.089)				13			12		0	0	6.40141e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92620171	92620171	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr11:92620171G>A	uc001pdj.4	+	23	12960	c.12943G>A	c.(12943-12945)Ggg>Agg	p.G4315R	FAT3_uc001pdi.4_Missense_Mutation_p.G755R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4315					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAGACAAAGGGGTTGATGA	0.488000										TCGA Ovarian(4;0.039)				49			41		0	0	0.000147903	0	0
NBEAL1	65065	broad.mit.edu	37	2	203974915	203974916	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:203974915_203974916CC>AA	uc002uzt.3	+	13	2238_2239	c.1905_1906CC>AA	c.(1903-1908)acccat>acAAat	p.H636N		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	636							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCTTTATTACCCATTCAGGTAT	0.381000														295			10		0	0	6.4e-05	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342248	60342248	+	RNA	SNP	G	C	C	rs76625372		TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:60342248G>C	uc010woz.2	-	13		c.1881C>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						ATCTCTGAATGTCTCTCGAGC	0.483000														32			4		0	0	3.59834e-05	0	0
GPR141	353345	broad.mit.edu	37	7	37780115	37780115	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:37780115C>T	uc003tfm.1	+	0	120	c.120C>T	c.(118-120)ttC>ttT	p.F40F	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	40						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCATTCTTTTCCTCCTGGTGA	0.498000														17			10		0	0	0.000442599	0	0
DNAH9	1770	broad.mit.edu	37	17	11865375	11865375	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr17:11865375G>A	uc002gne.3	+	67	13103	c.13035G>A	c.(13033-13035)tgG>tgA	p.W4345*	DNAH9_uc010coo.3_Nonsense_Mutation_p.W3563*|DNAH9_uc002gnf.3_Nonsense_Mutation_p.W657*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4345					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACTGTGTGGCTGACAGGCT	0.572000														33			14		0	0	0.000151284	0	0
OR6N1	128372	broad.mit.edu	37	1	158735788	158735788	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr1:158735788G>A	uc010piq.2	-	0	685	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCAGCTGAGGGAATTCTGAGC	0.498000														55			23		0	0	9.22233e-05	0	0
UNC13C	440279	broad.mit.edu	37	15	54914531	54914531	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr15:54914531C>T	uc021smr.1	+	28	6107	c.6107C>T	c.(6106-6108)tCc>tTc	p.S2036F	UNC13C_uc021sms.1_Missense_Mutation_p.S2038F|UNC13C_uc002acm.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2038				S -> C (in Ref. 4; AAH40740).	exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Q2035P(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCAGGTCGTTCCTCCAAAGAT	0.403000														20			6		0	0	3.59834e-05	0	0
CNTN1	1272	broad.mit.edu	37	12	41463790	41463790	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:41463790G>T	uc001rmm.1	+	23	3123	c.3010G>T	c.(3010-3012)Ggc>Tgc	p.G1004C	CNTN1_uc001rmn.1_Missense_Mutation_p.G993C	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	1004					Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAGTCTTCTCGGCTTACTGCT	0.468000														44			4		8.12818e-05	0.00182112	8.12818e-05	1	0
FAM123C	205147	broad.mit.edu	37	2	131520228	131520228	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:131520228G>A	uc021voy.1	+	0	583	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	FAM123C_uc002trw.2_Missense_Mutation_p.G195R|FAM123C_uc010fmv.2_Missense_Mutation_p.G195R|FAM123C_uc010fms.1_Missense_Mutation_p.G195R|FAM123C_uc010fmt.1_Missense_Mutation_p.G195R|FAM123C_uc010fmu.1_Missense_Mutation_p.G195R	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	195										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AGACCCTGGGGGGCGGCGAAG	0.667000														18			10		0	0	0.000442599	0	0
NOTCH1	4851	broad.mit.edu	37	9	139395206	139395206	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:139395206G>A	uc004chz.3	-	30	5732	c.5732C>T	c.(5731-5733)tCc>tTc	p.S1911F		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1911					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATGAAGTCGGAGATGACGGC	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				28			7		0	0	8.12818e-05	0	0
GML	2765	broad.mit.edu	37	8	143922535	143922535	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:143922535G>A	uc003yxg.3	+	3	164	c.74_splice	c.e3-1	p.W25_splice		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	25					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCCTCTCAGGGACTTACAGTT	0.502000														18			13		0	0	0.00010058	0	0
TTN	7273	broad.mit.edu	37	2	179499341	179499341	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:179499341A>T	uc021vsy.1	-	178	34688	c.34463T>A	c.(34462-34464)tTt>tAt	p.F11488Y	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.F5183Y|TTN_uc021vta.1_Missense_Mutation_p.F5116Y|TTN_uc021vtb.1_Missense_Mutation_p.F4991Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12415	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)			GGGCACAGCAAAGTCAAGTTC	0.448000														40			9		0	0	0.000274275	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875633	75875634	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:75875633_75875634CC>TT	uc001sxs.3	+	1	342_343	c.194_195CC>TT	c.(193-195)gcc>gTT	p.A65V	GLIPR1_uc009zsb.1_Missense_Mutation_p.A65V	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	65					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CCAGCACTAGCCCAAATTGCAA	0.455000														53			14		0	0	6.4e-05	0	0
TENC1	23371	broad.mit.edu	37	12	53452857	53452857	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr12:53452857C>T	uc001sbp.3	+	17	1567	c.1432C>T	c.(1432-1434)Ctg>Ttg	p.L478L	TENC1_uc001sbl.3_Silent_p.L354L|TENC1_uc001sbn.3_Silent_p.L488L|TENC1_uc001sbq.3_5'UTR|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_5'UTR	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	478					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCGGGGTCCCCTGGATGGCAG	0.662000														36			6		0	0	8.12818e-05	0	0
CIITA	4261	broad.mit.edu	37	16	11012339	11012339	+	Silent	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr16:11012339C>T	uc002daj.4	+	15	3241	c.3108C>T	c.(3106-3108)ctC>ctT	p.L1036L	CIITA_uc002dai.4_Silent_p.L1035L|CIITA_uc002dak.4_Silent_p.L451L	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	1035					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.L1035L(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTACAAACTCGCCGAGGCCC	0.632000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """						OREG0023606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		128			28		0	0	0.000279167	0	0
LRIT2	340745	broad.mit.edu	37	10	85984282	85984282	+	Silent	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr10:85984282G>A	uc010qmc.2	-	1	707	c.699C>T	c.(697-699)ggC>ggT	p.G233G	LRIT2_uc001kcy.3_Silent_p.G233G	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	233	LRRCT.					integral to membrane		p.G233C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TGGACAGAGGGCCCTGACATA	0.532000														18			18		0	0	7.07596e-05	0	0
INTS8	55656	broad.mit.edu	37	8	95839555	95839556	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:95839555_95839556GG>TT	uc003yhb.3	+	2	496_497	c.370_371GG>TT	c.(370-372)ggg>TTg	p.G124L	INTS8_uc003yha.1_Missense_Mutation_p.G124L|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_5'Flank	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	124					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AGTTCCTCCTGGGACAAAGCAT	0.391000														390			14		0	0	6.4e-05	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807754	15807754	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:15807754G>A	uc002nbl.3	+	12	1553	c.1434G>A	c.(1432-1434)atG>atA	p.M478I		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGGCGGAGATGAAAGTGGTCC	0.637000														21			9		0	0	0.000274275	0	0
GEM	2669	broad.mit.edu	37	8	95272502	95272502	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr8:95272502C>T	uc003ygi.3	-	1	354	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	GEM_uc003ygj.3_Missense_Mutation_p.R77Q	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	77					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GAGCACCACTCGGTAGTAGGT	0.592000														16			8		0	0	0.000274275	0	0
SCN2A	6326	broad.mit.edu	37	2	166172203	166172203	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:166172203G>A	uc002udc.3	+	10	1896	c.1606G>A	c.(1606-1608)Ggt>Agt	p.G536S	SCN2A_uc002udd.3_Missense_Mutation_p.G536S|SCN2A_uc002ude.3_Missense_Mutation_p.G536S	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	536					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAGAAGAAAAGGTTTCCGTTT	0.348000														58			23		0	0	0.000586117	0	0
FCHO1	23149	broad.mit.edu	37	19	17893860	17893860	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:17893860A>G	uc002nhg.3	+	23	2251	c.1972A>G	c.(1972-1974)Acc>Gcc	p.T658A	FCHO1_uc010ebb.2_Missense_Mutation_p.T658A|FCHO1_uc002nhh.2_Missense_Mutation_p.T658A|FCHO1_uc010xpw.1_Missense_Mutation_p.T608A	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	658										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GCTGACCATGACCTTCCCTGC	0.607000														18			3		0	0	6.4e-05	0	0
LOC728819	728819	broad.mit.edu	37	2	43902683	43902684	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:43902683_43902684GG>TT	uc010fav.1	-	0	778_779	c.778_779CC>AA	c.(778-780)cct>AAt	p.P260N	PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron	NM_001101330	NP_001094800			Homo sapiens hCG1645220 (LOC728819), mRNA.														all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TACTTGCTGAGGGTTATTAGAC	0.421000														261			9		0	0	6.4e-05	0	0
ITGB8	3696	broad.mit.edu	37	7	20434519	20434519	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr7:20434519G>A	uc003suu.3	+	8	1762	c.1057_splice	c.e8-1	p.D353_splice	ITGB8_uc011jyh.2_Splice_Site_p.D218_splice|ITGB8_uc003sut.3_Splice_Site_p.D353_splice	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	353	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TGTTTTATAGGATCTTCTACC	0.353000														20			24		0	0	0.000586117	0	0
CASP8	841	broad.mit.edu	37	2	202136345	202136346	+	Splice_Site	INS	-	T	T			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr2:202136345_202136346insT	uc002uxr.1	+	4	620	c.411_splice	c.e4+1	p.M137_splice	CASP8_uc010ftc.1_Splice_Site_p.M137_splice|CASP8_uc002uxo.1_Splice_Site_p.M137_splice|CASP8_uc002uxq.1_Splice_Site_p.M137_splice|CASP8_uc002uxp.1_Splice_Site_p.M169_splice|CASP8_uc002uxs.1_Splice_Site_p.M137_splice|CASP8_uc002uxu.1_Splice_Site|CASP8_uc002uxt.1_Splice_Site_p.M196_splice|CASP8_uc010ftd.1_Splice_Site_p.M34_splice|CASP8_uc002uxv.1_Splice_Site_p.M137_splice|CASP8_uc002uxw.1_Splice_Site_p.M137_splice|CASP8_uc021vuy.1_Intron|CASP8_uc021vuz.1_Splice_Site_p.M137_splice|CASP8_uc021vva.1_Splice_Site_p.M137_splice|CASP8_uc010ftf.2_Splice_Site_p.M137_splice|CASP8_uc010fte.1_Splice_Site_p.M34_splice	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	137	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGATGACATGGTAAGACCTGGT	0.416										HNSCC(4;0.00038)			---	24	---	---	16	---					
COL5A1	1289	broad.mit.edu	37	9	137709627	137709627	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr9:137709627delC	uc004cfe.3	+	53	4562	c.4180delC	c.(4180-4182)cccfs	p.P1394fs		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1394	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTTTCAGGGTCCCCCAGGCCC	0.652													---	4	---	---	2	---					
BAX	581	broad.mit.edu	37	19	49458216	49458216	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A2JC-06A-11D-A19A-08	TCGA-D3-A2JC-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40e1f15a-0457-40af-a91e-ca544e3dd668	3473ddb4-0619-40e4-a241-39b6608484b2	g.chr19:49458216delG	uc002plk.3	+	0	100	c.31delG	c.(31-33)gggfs	p.G11fs	BAX_uc002plf.1_Frame_Shift_Del_p.G11fs|BAX_uc002plg.1_5'UTR|BAX_uc002plh.1_5'UTR|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Frame_Shift_Del_p.G11fs|BAX_uc002pll.3_Frame_Shift_Del_p.G11fs|BAX_uc002plm.3_5'UTR	NM_138761	NP_620116	Q07812	BAX_HUMAN	Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.	11			G -> E (in a plasmacytoma cell line).		B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.G10D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		gcccagaggcgggggtgaggc	0.786													---	4	---	---	2	---