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
OR52A1	23538	broad.mit.edu	37	11	5172901	5172901	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5172901C>T	uc010qyy.2	-	0	699	c.699G>A	c.(697-699)caG>caA	p.Q233Q		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	233					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGCCTCCTTCTGGGGCAAAC	0.433000														60			22		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88476403	88476403	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:88476403G>A	uc002bme.2	-	15	2035	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	NTRK3_uc002bmh.2_Missense_Mutation_p.P569S|NTRK3_uc002bmf.2_Missense_Mutation_p.P577S|NTRK3_uc021sua.1_Missense_Mutation_p.P569S|NTRK3_uc010upl.1_Missense_Mutation_p.P479S|NTRK3_uc010bnh.1_Missense_Mutation_p.P569S	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	577	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.D576N(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCAGGGTGGGATCCTTCAGG	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				41			24		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102171898	102171898	+	Missense_Mutation	SNP	G	A	A	rs147615734		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:102171898G>A	uc003dvt.1	+	2	390	c.290G>A	c.(289-291)gGg>gAg	p.G97E	ZPLD1_uc003dvs.1_Missense_Mutation_p.G81E|ZPLD1_uc011bhg.1_Missense_Mutation_p.G81E	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	81	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CACTGCAGAGGGTTCATCAAT	0.448000														29			23		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13792274	13792274	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:13792274C>T	uc003jfd.2	-	49	8319	c.8277G>A	c.(8275-8277)gtG>gtA	p.V2759V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2759	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAATCTCTCACTTCTTCTG	0.423000									Kartagener syndrome					39			20		0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29386729	29386729	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:29386729C>T	uc002rmv.3	+	12	1806	c.1567C>T	c.(1567-1569)Cat>Tat	p.H523Y	CLIP4_uc002rmu.3_Missense_Mutation_p.H523Y|CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	523	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGAAAAACCCCATGGCAAGAA	0.388000														34			30		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408935	82408935	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:82408935G>A	uc001dit.4	+	5	861	c.680G>A	c.(679-681)aGg>aAg	p.R227K	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.R227K|LPHN2_uc001div.3_Missense_Mutation_p.R227K|LPHN2_uc009wcd.3_Missense_Mutation_p.R227K	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	227	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GAAAGAACGAGGAATATTGTG	0.393000														43			11		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037857	75037857	+	Silent	SNP	C	T	T	rs140378667	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:75037857C>T	uc001dgg.3	-	13	3756	c.3537G>A	c.(3535-3537)ggG>ggA	p.G1179G		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1179	Glu-rich.							p.G1178G(1)|p.G1179V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCAGTCTTTCCCCTCCTCCTT	0.493000														76			58		0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423091	47423091	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:47423091C>T	uc010ekv.3	+	0	1159	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	387	FF 2.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TGAAGAGACCCCATGGGATGC	0.443000														80			20		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845734	107845734	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:107845734C>T	uc003hyi.3	-	2	1202	c.497G>A	c.(496-498)gGa>gAa	p.G166E	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.G166E	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	166					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space		p.G166R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GTGTGGTCTTCCTAGATTCTG	0.393000														63			13		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106681137	106681137	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:106681137G>A	uc009yxn.1	-	4	1664	c.1274C>T	c.(1273-1275)cCa>cTa	p.P425L	GUCY1A2_uc001pjg.1_Missense_Mutation_p.P425L|GUCY1A2_uc010rvo.1_Missense_Mutation_p.P446L	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	425					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTCCACACATGGAGAGCCCAA	0.433000														14			29		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969297	47969297	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:47969297G>A	uc010ele.3	-	0	380	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SLC8A2_uc002pgx.3_Missense_Mutation_p.R122C|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	122					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTCCAGATGCGAACGGTGCCC	0.587000														23			4		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329347	152329347	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152329347C>T	uc001ezw.4	-	2	988	c.915G>A	c.(913-915)ggG>ggA	p.G305G	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	305	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTTCCTTGCCCTCCAAATC	0.478000														82			69		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118870139	118870139	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:118870139G>A	uc003ecb.1	+	2	1651	c.1611G>A	c.(1609-1611)taG>taA	p.*537*	C3orf30_uc011biw.1_Silent_p.*536*	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	0										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCCAGGTATAGAATTGGAGAA	0.358000														115			59		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130203	45130203	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:45130203C>T	uc002xsa.3	-	3	2306	c.1844G>A	c.(1843-1845)cGa>cAa	p.R615Q	ZNF334_uc002xsb.3_Missense_Mutation_p.R554Q|ZNF334_uc002xsd.3_Missense_Mutation_p.R554Q|ZNF334_uc002xsc.3_Missense_Mutation_p.R592Q|ZNF334_uc010ghl.3_Missense_Mutation_p.R591Q			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGTGTGAGTTCGCTGATGTTC	0.443000														82			36		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227189	38227189	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:38227189C>T	uc009vvi.3	-	2	824	c.738G>A	c.(736-738)ggG>ggA	p.G246G	EPHA10_uc001cbw.4_Silent_p.G246G	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	246						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCCAGGCTCCCCTTCCGAGT	0.726000														20			7		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189916072	189916072	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:189916072C>T	uc002uqk.3	-	41	3180	c.2905G>A	c.(2905-2907)Ggg>Agg	p.G969R	COL5A2_uc010frx.3_Missense_Mutation_p.G545R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	969					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGGGTCCCCTTTGTCTCCT	0.562000														56			48		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179720250	179720250	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179720250C>T	uc002une.2	-	18	3002	c.2884G>A	c.(2884-2886)Gaa>Aaa	p.E962K	CCDC141_uc002unf.1_Missense_Mutation_p.E441K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	387							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTAACTTTTTCCATTTTCCTT	0.284000														34			7		0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228879199	228879199	+	Silent	SNP	G	A	A	rs61732781	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:228879199G>A	uc001htf.3	+	2	1155	c.489G>A	c.(487-489)tcG>tcA	p.S163S	RHOU_uc021pkj.1_Non-coding_Transcript	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	163					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				GAACGCAGTCGGATCTCAGAG	0.522000														80			31		0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237516	30237516	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:30237516C>T	uc022buf.1	+	0	819	c.819C>T	c.(817-819)ttC>ttT	p.F273F	MAGEB2_uc004dbz.3_Silent_p.F273F	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	273	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GCTTTCAATTCCTGTGGGGTC	0.517000														5			25		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70091477	70091477	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:70091477C>T	uc001svg.3	-	1	329	c.102G>A	c.(100-102)agG>agA	p.R34R	BEST3_uc001svd.2_Silent_p.R34R|BEST3_uc010stm.2_Intron|BEST3_uc001svi.1_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	34						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAATAAATTCCCTGTACAGTA	0.358000														49			41		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666794	167666794	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:167666794G>A	uc001gem.3	+	5	1120	c.933G>A	c.(931-933)atG>atA	p.M311I	RCSD1_uc010pli.2_Missense_Mutation_p.M281I	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	311	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					AAGCAGAGATGGAAAAGGCTA	0.567000														14			3		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100527069	100527069	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:100527069C>T	uc003dun.3	-	18	1693	c.1608G>A	c.(1606-1608)caG>caA	p.Q536Q	ABI3BP_uc003duj.3_Silent_p.Q91Q|ABI3BP_uc003duk.3_Silent_p.Q220Q|ABI3BP_uc003dul.3_Silent_p.Q341Q|ABI3BP_uc011bhd.2_Silent_p.Q490Q|ABI3BP_uc003dum.3_5'UTR	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	536	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CACGTGGTGTCTGCTTGGGAG	0.418000														23			9		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56090866	56090866	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:56090866G>A	uc010giw.1	-	5	1195	c.1084C>T	c.(1084-1086)Cga>Tga	p.R362*	CTCFL_uc010gix.1_Nonsense_Mutation_p.R362*|CTCFL_uc002xym.2_Nonsense_Mutation_p.R362*|CTCFL_uc010gjb.1_Nonsense_Mutation_p.R362*|CTCFL_uc010gja.1_Nonsense_Mutation_p.R362*|CTCFL_uc010gjc.1_Nonsense_Mutation_p.R362*|CTCFL_uc010gjd.1_Nonsense_Mutation_p.R362*|CTCFL_uc010gje.3_Nonsense_Mutation_p.R362*|CTCFL_uc010gjg.3_Nonsense_Mutation_p.R94*|CTCFL_uc010gjf.3_Nonsense_Mutation_p.R157*|CTCFL_uc010gjh.2_Intron|CTCFL_uc010gji.2_Nonsense_Mutation_p.R157*|CTCFL_uc010gjj.2_Nonsense_Mutation_p.R362*|CTCFL_uc021wfe.1_Nonsense_Mutation_p.R362*|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_Nonsense_Mutation_p.R94*	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	362					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.R362*(2)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTGTGGGATCGGACATGGCGC	0.443000														99			55		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718677	25718677	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:25718677G>A	uc003xes.2	-	12	1495	c.1230C>T	c.(1228-1230)agC>agT	p.S410S	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	410					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CTGGAAGCTGGCTGGGATTCC	0.527000														86			49		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900349	13900349	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:13900349C>T	uc003jfd.2	-	14	2267	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	742	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTATCTATCTCGTTTCTGGAA	0.388000									Kartagener syndrome					47			15		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19647525	19647525	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:19647525C>T	uc002ykw.3	-	23	2924	c.2893G>A	c.(2893-2895)Gat>Aat	p.D965N		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	965	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGACAAGAATCTATTCCTCCT	0.353000														86			54		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415720	19415720	+	RNA	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:19415720G>A	uc010tcj.1	-	0		c.30390C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AGTTTCTTGGGAAATTGCTGA	0.343000														50			12		0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75902746	75902746	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:75902746G>A	uc001oxe.3	-	3	875	c.752C>T	c.(751-753)cCc>cTc	p.P251L	WNT11_uc001oxf.1_Missense_Mutation_p.P251L	NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	251					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GGTGCCCATGGGTCGGTGCAC	0.612000														93			48		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15547739	15547739	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:15547739G>A	uc002nbb.4	-	2	621	c.407C>T	c.(406-408)cCc>cTc	p.P136L		NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	972						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TCGGCCCAGGGGGCTGGGGGG	0.662000														59			18		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216279657	216279657	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:216279657A>G	uc002vfa.3	-	12	2110	c.1844T>C	c.(1843-1845)tTt>tCt	p.F615S	FN1_uc002vfc.3_Missense_Mutation_p.F615S|FN1_uc002vfe.3_Missense_Mutation_p.F615S|FN1_uc002vff.3_Missense_Mutation_p.F615S|FN1_uc002vfg.3_Missense_Mutation_p.F615S|FN1_uc002vfh.3_Missense_Mutation_p.F615S|FN1_uc002vfi.3_Missense_Mutation_p.F615S|FN1_uc002vfj.3_Missense_Mutation_p.F615S|FN1_uc002vfb.3_Missense_Mutation_p.F615S|FN1_uc002vfl.3_Missense_Mutation_p.F615S	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	615	Fibronectin type-III 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCAGTGATAAATACTTCGAC	0.438000														15			23		0	0	1	0	0
SFXN3	81855	broad.mit.edu	37	10	102795757	102795758	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:102795757_102795758CA>AT	uc010qpx.2	+	3	514_515	c.354_355CA>AT	c.(352-357)ctcagg>ctATgg	p.R119W	SFXN3_uc001ksp.3_Splice_Site_p.R115_splice	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN	Homo sapiens sideroflexin 3 (SFXN3), mRNA.	115					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TTTGTTCCCTCAGGAAGACCCC	0.515000														30			27		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103185765	103185765	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:103185765C>T	uc022ajr.1	-	41	6489	c.6329G>A	c.(6328-6330)gGa>gAa	p.G2110E	RELN_uc022ajq.1_Missense_Mutation_p.G2110E|RELN_uc010liz.3_Missense_Mutation_p.G2110E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2110					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)		AGGGTAAAATCCCTGGTACCA	0.458000														32			8		0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	78005753	78005753	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:78005753G>A	uc002ffg.1	+	7	1181	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	362							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCAGGTGAAGGAGGCCATGCA	0.512000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		109			112		0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57057335	57057335	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:57057335G>A	uc002iwx.3	+	7	1338	c.1211_splice	c.e7-1	p.G404_splice	PPM1E_uc010ddd.3_Splice_Site_p.G167_splice	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	413	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CTTCCCGCAGGAGATGCTGAA	0.483000														28			17		0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092603	151092603	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:151092603C>T	uc022cgv.1	+	0	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F	MAGEA4_uc004fez.3_Missense_Mutation_p.S156F|MAGEA4_uc004ffa.3_Missense_Mutation_p.S156F|MAGEA4_uc004ffb.3_Missense_Mutation_p.S156F|MAGEA4_uc022cgu.1_Missense_Mutation_p.S184F|MAGEA4_uc004ffc.3_Missense_Mutation_p.S156F|MAGEA4_uc004ffd.3_Missense_Mutation_p.S156F	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	156	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAAAGCCTCCGAGTCCCTG	0.527000														17			61		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193176957	193176957	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:193176957C>T	uc003ftd.3	-	13	1695	c.1587G>A	c.(1585-1587)gcG>gcA	p.A529A	ATP13A4_uc003fte.1_Silent_p.A529A|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Silent_p.A235A	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	529					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGCTGGCCATCGCTGCACACA	0.542000														49			31		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958913	54958913	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:54958913G>A	uc003dhl.3	-	1	471	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	113						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTGCTTTCCAGGGAAAGGAGT	0.473000														32			28		0	0	1	0	0
TCRBV15S1	0	broad.mit.edu	37	7	142364675	142364675	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:142364675C>A	uc003vzx.3	+	1	344	c.310C>A	c.(310-312)Cag>Aag	p.Q104K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Non-coding_Transcript|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CATCCCCAACCAGACAGCTCT	0.483000														34			35		4.32679e-17	4.38398e-17	1	1	0
DACT1	51339	broad.mit.edu	37	14	59113795	59113795	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:59113795C>T	uc001xdw.3	+	3	2618	c.2454C>T	c.(2452-2454)ctC>ctT	p.L818L	DACT1_uc010trv.2_Silent_p.L537L|DACT1_uc001xdx.3_Silent_p.L781L|DACT1_uc010trw.2_Silent_p.L537L	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	818					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CACATAACCTCAAGAAGAAGA	0.458000														101			16		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233986883	233986883	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:233986883G>A	uc010zmo.2	+	2	418	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	INPP5D_uc010zmp.2_Missense_Mutation_p.E89K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	89	SH2.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TTACAAGAAGGAAAACATGGG	0.552000														52			41		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137622235	137622235	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:137622235G>A	uc004cfe.3	+	6	1460	c.1078G>A	c.(1078-1080)Ggg>Agg	p.G360R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	360	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTATGGCGAGGGGGAGGAGAA	0.602000														69			17		0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	651732	651732	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:651732G>A	uc010drs.3	-	3	434	c.322C>T	c.(322-324)Cct>Tct	p.P108S		NM_194460	NP_919442	Q9BV68	RN126_HUMAN	Homo sapiens ring finger protein 126 (RNF126), mRNA.	108							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCTCTCAGGGTCCCTGCCG	0.716000														22			4		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117282638	117282638	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:117282638G>A	uc003vjd.3	+	22	3996	c.3864G>A	c.(3862-3864)gtG>gtA	p.V1288V	CFTR_uc011knq.2_Silent_p.V694V	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1288	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CCTTTGGAGTGATACCACAGG	0.373000									Cystic Fibrosis					13			5		0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55209215	55209215	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:55209215G>A	uc002xya.3	+	4	1056	c.813G>A	c.(811-813)tcG>tcA	p.S271S	TFAP2C_uc010zzi.2_Silent_p.S102S	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	271					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GAGCCAAATCGAAAAATGGAG	0.453000														52			27		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28273074	28273074	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:28273074G>A	uc001zbh.4	-	3	568	c.458C>T	c.(457-459)tCc>tTc	p.S153F	OCA2_uc010ayv.3_Missense_Mutation_p.S153F	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	153					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TCCCTTCTCGGAGGAGGCAGA	0.602000									Oculocutaneous Albinism					59			24		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41765576	41765576	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:41765576G>A	uc010ehj.3	+	19	2642	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	HNRNPUL1_uc002opz.4_5'Flank|HNRNPUL1_uc002oqa.4_5'Flank|AXL_uc010ehk.3_Missense_Mutation_p.E809K|HNRNPUL1_uc010ehl.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	818						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E809K(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGAGCCTGACGAAATCCTCTA	0.572000														55			9		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51251600	51251600	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:51251600C>T	uc011bds.2	+	13	1197	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	392						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)		GGAACAGATTCGGAGAGAAAA	0.398000														16			16		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20959957	20959957	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:20959957C>T	uc010vbe.2	-	56	11191	c.11191G>A	c.(11191-11193)Gaa>Aaa	p.E3731K	DNAH3_uc010vbd.2_Missense_Mutation_p.E1166K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3731					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAATTACATTCCCCTGGGGAC	0.498000														44			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444336	179444336	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179444336C>T	uc021vsy.1	-	267	60109	c.59884G>A	c.(59884-59886)Gga>Aga	p.G19962R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G13657R|TTN_uc021vta.1_Missense_Mutation_p.G13590R|TTN_uc021vtb.1_Missense_Mutation_p.G13465R|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20889	Fibronectin type-III 44.						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)			GTTCCTTCTCCATTTTCATTC	0.423000														83			42		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155458328	155458328	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:155458328G>A	uc003qqb.3	+	6	2485	c.1212G>A	c.(1210-1212)gaG>gaA	p.E404E	TIAM2_uc003qqe.3_Silent_p.E404E|TIAM2_uc010kjj.3_5'UTR	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	404					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGTCCAAGGAGGGCAGTGACT	0.512000														19			13		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054843	29054843	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:29054843G>A	uc003nlx.3	-	0	248	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TAGTGAGAAAGAAATACATGG	0.388000														69			28		0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26788680	26788680	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:26788680G>A	uc001uqo.3	-	4	1684	c.1339C>T	c.(1339-1341)Cgt>Tgt	p.R447C	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Missense_Mutation_p.R447C|RNF6_uc001uqq.3_Missense_Mutation_p.R447C|RNF6_uc010tdk.2_Missense_Mutation_p.R91C	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	447					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	p.S446C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CGCTCTAAACGAGAAATGGTT	0.443000														93			27		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55118812	55118812	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:55118812G>A	uc010ooe.1	+	2	537	c.213G>A	c.(211-213)gaG>gaA	p.E71E	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Silent_p.E71E|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.E71E|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	71						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCAGGGGAGGCCTCAGGCC	0.547000														43			24		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059754	152059754	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152059754G>A	uc001ezo.1	-	2	469	c.404C>T	c.(403-405)cCt>cTt	p.P135L		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	135							calcium ion binding	p.L134I(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CATTCCTGAAGGAAGCATCCT	0.483000														35			42		0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71510466	71510466	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:71510466G>A	uc003xyo.2	-	2	472	c.212C>T	c.(211-213)tCc>tTc	p.S71F	TRAM1_uc011lfc.2_Missense_Mutation_p.S40F	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Homo sapiens translocation associated membrane protein 1 (TRAM1), mRNA.	71					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GTAATAAAGGGACACTGATTC	0.333000														46			19		0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45805651	45805651	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:45805651C>T	uc002pbb.2	+	16	2273	c.1942C>T	c.(1942-1944)Caa>Taa	p.Q648*	MARK4_uc002pba.2_Silent_p.I674I	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	648					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACCTTGGGATCAAACGGAAAC	0.612000														139			112		0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104172317	104172317	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:104172317G>A	uc001kvg.1	-	5	2096	c.1569C>T	c.(1567-1569)agC>agT	p.S523S	PSD_uc001kvh.1_Silent_p.S144S|PSD_uc009xxd.1_Silent_p.S523S	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	523	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACACCAGCTGGCTCAGGGGTG	0.632000														11			10		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988197	113988197	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:113988197G>A	uc003ynu.3	-	6	1370	c.1211C>T	c.(1210-1212)tCa>tTa	p.S404L	CSMD3_uc003ynt.3_Missense_Mutation_p.S364L|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	404						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCCAGACCTGAATTTCTGAG	0.493000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				85			47		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520438	52520438	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:52520438G>A	uc001wzo.3	-	4	1522	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S	NID2_uc010tqs.2_Missense_Mutation_p.P430S|NID2_uc010tqt.1_Missense_Mutation_p.P430S|NID2_uc001wzp.3_Missense_Mutation_p.P430S	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	430						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ATTTCCGAAGGCACTGGCCCT	0.537000														61			15		0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39587266	39587266	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:39587266G>A	uc001uwy.3	-	10	2996	c.2123C>T	c.(2122-2124)cCt>cTt	p.P708L	PROSER1_uc001uwz.3_Missense_Mutation_p.P686L	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	708	Ser-rich.																GCCAGTTAAAGGAAAATTGTT	0.473000														78			53		0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139994250	139994250	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:139994250C>T	uc004cld.2	+	5	868	c.833C>T	c.(832-834)tCc>tTc	p.S278F	MAN1B1_uc004clc.2_Missense_Mutation_p.S179F|MAN1B1_uc011meo.1_Missense_Mutation_p.S179F|MAN1B1_uc011mep.2_Missense_Mutation_p.S278F|MAN1B1_uc010ncc.2_Non-coding_Transcript	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	278					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		AAGCCTGTGTCCAGGTCCTTC	0.547000														45			41		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031367	56031367	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:56031367C>T	uc010spq.2	+	0	692	c.692C>T	c.(691-693)tCc>tTc	p.S231F		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GCAATGGCCTCCACCCAGAGC	0.557000														79			19		0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17397294	17397294	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:17397294C>T	uc010xpn.1	+	7	1840	c.1726C>T	c.(1726-1728)Ccc>Tcc	p.P576S	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Missense_Mutation_p.A594V|ANKLE1_uc010eao.1_Missense_Mutation_p.A590V|ANKLE1_uc002nfy.2_Missense_Mutation_p.A557V|ANKLE1_uc002nfz.2_Missense_Mutation_p.A300V			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	556						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CTGCACCGTGCCCTCCTTGTC	0.662000														14			5		0	0	1	0	0
PPP1CB	5500	broad.mit.edu	37	2	29006829	29006829	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:29006829G>T	uc002rmg.3	+	5	737	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	PPP1CB_uc010ymj.2_Missense_Mutation_p.D165Y|PPP1CB_uc010yml.2_Missense_Mutation_p.D165Y|PPP1CB_uc002rmh.3_Missense_Mutation_p.D193Y|SPDYA_uc002rmi.3_5'UTR	NM_206876	NP_996759	P62140	PP1B_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, beta isozyme (PPP1CB), transcript variant 3, mRNA.	193					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|nucleolus	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GAGACCTACTGATGTCCCTGA	0.343000														37			5		1.23904e-05	1.24592e-05	1	1	0
OR6C1	390321	broad.mit.edu	37	12	55715194	55715194	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:55715194G>A	uc010spi.2	+	0	811	c.811G>A	c.(811-813)Gga>Aga	p.G271R		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CTTGAGCAAGGGAGTGGCAAT	0.428000														58			35		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170232732	170232732	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:170232732G>A	uc003mau.3	+	6	752	c.554G>A	c.(553-555)gGa>gAa	p.G185E	GABRP_uc011dev.2_Missense_Mutation_p.G185E	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	185						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGCTATGATGGAAATGATGTG	0.502000														29			21		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447420	226447420	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:226447420C>T	uc002voe.2	+	3	1462	c.1287C>T	c.(1285-1287)taC>taT	p.Y429Y	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.Y199Y	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	429	Pro-rich.																CCCATGGCTACCCTAAAAGTC	0.667000														12			4		0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86900947	86900947	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:86900947G>A	uc010mpz.3	-	12	1506	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L	SLC28A3_uc011lsy.2_Silent_p.L385L|SLC28A3_uc004anu.2_Silent_p.L454L	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	454					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGGCAATCAGATTCACAGCG	0.458000														17			10		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178038	223178038	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:223178038C>T	uc001hnu.2	+	9	3625	c.3299C>T	c.(3298-3300)tCc>tTc	p.S1100F		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1100					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)		ATGATGCCCTCCACAGTTCTA	0.567000														284			244		0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958097	57958097	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:57958097G>A	uc010rka.2	+	0	192	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				ACACAGGCATGATCCTCCTGA	0.502000														31			8		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2928874	2928874	+	Silent	SNP	G	A	A	rs141461698	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:2928874G>A	uc003bpc.3	+	9	1245	c.906G>A	c.(904-906)ggG>ggA	p.G302G	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.G302G|CNTN4_uc003bpd.1_Silent_p.G302G	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	302	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTCCAGAGGGAAAAATGTAG	0.373000														26			14		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34208985	34208985	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:34208985C>T	uc001bxm.1	-	13	2246	c.2069G>A	c.(2068-2070)gGa>gAa	p.G690E	CSMD2_uc001bxn.1_Missense_Mutation_p.G650E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	650	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCTGGTTTCCTGAGAAGGT	0.587000														45			11		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176993856	176993856	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:176993856C>T	uc001glc.3	-	5	1345	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	ASTN1_uc001glb.1_Missense_Mutation_p.R378Q|ASTN1_uc001gld.1_Missense_Mutation_p.R378Q|ASTN1_uc009wwx.1_Missense_Mutation_p.R378Q|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	378					cell migration|neuron cell-cell adhesion	integral to membrane		p.R378Q(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACAGGACTTCGGGGAGAACC	0.493000														32			13		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398171	77398172	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:77398171_77398172CC>TT	uc002ffc.4	-	4	1304_1305	c.885_886GG>AA	c.(883-888)gtggaa>gtAAaa	p.E296K	ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	296	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACGAGGGTTTCCACATTGAGGC	0.490000														30			42		0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	282248	282248	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:282248G>A	uc002loh.3	-	4	769	c.666C>T	c.(664-666)ttC>ttT	p.F222F	PPAP2C_uc002loi.3_Silent_p.F201F|PPAP2C_uc002loj.3_Silent_p.F145F	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	201					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCAGGAAGAACTGGACTG	0.607000														35			9		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104188917	104188917	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:104188917C>T	uc004bbk.2	-	5	626	c.544G>A	c.(544-546)Gga>Aga	p.G182R		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	182					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)				GGTACCAGTCCATTCTAAAAA	0.393000														63			27		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586707	15586707	+	Silent	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:15586707A>G	uc002nbg.3	-	1	907	c.774T>C	c.(772-774)ttT>ttC	p.F258F	PGLYRP2_uc002nbf.4_Silent_p.F258F	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	258					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCAAAAGCGTAAAGGTCCGAG	0.607000														25			37		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1481021	1481021	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:1481021C>T	uc002qwr.3	+	7	1069	c.983C>T	c.(982-984)aCc>aTc	p.T328I	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.T328I|TPO_uc002qwx.3_Missense_Mutation_p.T328I|TPO_uc002qwu.3_Missense_Mutation_p.T328I|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Missense_Mutation_p.T328I	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	328					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACGCGTCCACCGTGTATGGC	0.706000														5			8		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92174488	92174488	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:92174488G>A	uc001xzs.1	-	5	603	c.463C>T	c.(463-465)Cga>Tga	p.R155*		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	155					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R155*(4)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CATTTACCTCGAATAACATCC	0.353000														37			14		0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985763	108985763	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:108985763G>A	uc001tng.3	-	1	560	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	TMEM119_uc021rdl.1_Missense_Mutation_p.P133S	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	133						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TTCTTCTTGGGGAAGGACGAT	0.652000														10			6		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366438	248366438	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248366438C>T	uc010pzg.2	+	0	69	c.69C>T	c.(67-69)acC>acT	p.T23T		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P22S(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACAGCCCCACCCACACCTTCC	0.493000														144			99		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197194326	197194326	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:197194326G>A	uc002utm.1	-	4	727	c.544C>T	c.(544-546)Cga>Tga	p.R182*	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	182	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACAAGTTTTCGAGAATGCAGG	0.413000														37			36		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30748938	30748938	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:30748938C>T	uc002dze.1	+	33	7962	c.7577C>T	c.(7576-7578)cCt>cTt	p.P2526L	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P2321L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2526	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCTTCCTCTCCTCTCTTGCTT	0.587000														58			41		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46066497	46066497	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:46066497G>A	uc003gxb.3	-	4	738	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	196					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCATCCATGGGAAAGTTATGA	0.269000														71			15		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45795873	45795873	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:45795873C>T	uc010gpt.1	+	5	1029	c.929C>T	c.(928-930)tCg>tTg	p.S310L	TRPM2_uc002zet.1_Missense_Mutation_p.S310L|TRPM2_uc002zeu.1_Missense_Mutation_p.S310L|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.S310L|TRPM2_uc002zex.1_Missense_Mutation_p.S96L	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	310						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AAGTTCATATCGGAGCAGACC	0.577000														41			11		0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45981326	45981326	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:45981326C>T	uc001zvu.3	+	9	1399	c.1206C>T	c.(1204-1206)acC>acT	p.T402T	SQRDL_uc001zvv.3_Silent_p.T402T	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	402							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CGCTAGAAACCTTCCCCTTTG	0.443000														82			46		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62385095	62385095	+	Missense_Mutation	SNP	C	T	T	rs147103435		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:62385095C>T	uc003dll.2	-	29	4408	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	CADPS_uc003dlj.1_Missense_Mutation_p.E305K|CADPS_uc003dlk.1_Missense_Mutation_p.E798K|CADPS_uc003dlm.2_Missense_Mutation_p.E1311K|CADPS_uc003dln.2_Missense_Mutation_p.E1271K|CADPS_uc021wzv.1_Missense_Mutation_p.E1341K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1350	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.E1350K(2)|p.E1311K(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCGTCTTCTTCGTCTTCCTCA	0.498000														85			50		0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	135969367	135969367	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:135969367G>A	uc011bmc.2	+	0	201	c.150G>A	c.(148-150)ggG>ggA	p.G50G	PCCB_uc003eqz.1_Silent_p.G50G|PCCB_uc003eqy.2_Silent_p.G50G	NM_001178014	NP_001171485	P05166	PCCB_HUMAN	Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	50	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)	TGCTGGGAGGGGGCCAACGCC	0.677000											OREG0015823	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			15		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37342742	37342742	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:37342742G>A	uc003jku.1	-	9	1120	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	NUP155_uc003jkt.1_Silent_p.I275I|NUP155_uc010iuz.1_Silent_p.I334I	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	334					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGAACGATCGATGGTCCTAA	0.318000														20			5		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21325719	21325719	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:21325719G>A	uc001req.4	+	2	324	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	74					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.E74D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CGGAAGCTTTGAAATTGGTAA	0.299000														20			5		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57649879	57649879	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:57649879C>T	uc002qnz.1	-	2	489	c.103G>A	c.(103-105)Gat>Aat	p.D35N		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCATCACATCCCTGTACAAG	0.537000														51			9		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113448	94113448	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:94113448G>A	uc001pet.2	-	3	1311	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	380						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CACCCTGAAGGAAGGAACTGG	0.562000														90			8		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212537890	212537890	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:212537890G>A	uc002veg.1	-	14	1814	c.1716_splice	c.e14+1	p.P572_splice	ERBB4_uc002veh.1_Splice_Site_p.P572_splice|ERBB4_uc010zji.1_Splice_Site_p.P572_splice|ERBB4_uc010zjj.1_Splice_Site_p.P572_splice|ERBB4_uc010fut.1_Splice_Site_p.P572_splice	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	572	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGGCTTACCGGTCCATGGCA	0.413000										TSP Lung(8;0.080)				48			36		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582230	82582230	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:82582230G>A	uc003uhx.2	-	4	8328	c.8039C>T	c.(8038-8040)tCa>tTa	p.S2680L	PCLO_uc003uhv.2_Missense_Mutation_p.S2680L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2611					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGGTTGCTGAAACCTCAGT	0.448000														51			27		0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754406	31754406	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:31754406G>A	uc002rnw.1	-	4	737	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	223					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCAGCCCAAGGAAACAAAGTG	0.473000														21			5		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179733993	179733993	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179733993C>T	uc002une.2	-	14	2363	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K	CCDC141_uc002unf.1_Missense_Mutation_p.E228K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	174							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTTAACTCCTCTGATTCTTTC	0.338000														36			19		0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152739782	152739782	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:152739782G>A	uc002tya.3	-	2	318	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	CACNB4_uc002txy.3_Nonsense_Mutation_p.Q50*|CACNB4_uc002txz.3_Nonsense_Mutation_p.Q66*|CACNB4_uc010fnz.3_Nonsense_Mutation_p.Q84*|CACNB4_uc021vre.1_Nonsense_Mutation_p.Q50*|CACNB4_uc002tyb.2_Nonsense_Mutation_p.Q50*	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	84					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CTCTCAAGCTGGATAGCTGCT	0.512000														43			33		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71797846	71797846	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:71797846G>A	uc002llf.2	-	3	460	c.380C>T	c.(379-381)tCa>tTa	p.S127L	FBXO15_uc002lle.2_Missense_Mutation_p.S51L	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	51										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTTCCAATTTGATCTTGCAGG	0.358000														13			11		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57578891	57578891	+	Silent	SNP	C	T	T	rs144748998		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:57578891C>T	uc001snd.3	+	39	6832	c.6366C>T	c.(6364-6366)cgC>cgT	p.R2122R		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2122					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTATCAAGCGCGGGAGCAAAG	0.592000														37			33		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977030	30977031	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:30977030_30977031CC>TT	uc002ead.1	+	7	2514_2515	c.1828_1829CC>TT	c.(1828-1830)ccc>TTc	p.P610F		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	610	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						Acctccccctcccccgccgcct	0.698000														14			12		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021439	5021439	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:5021439G>A	uc001qnh.3	+	1	2000	c.895G>A	c.(895-897)Gtt>Att	p.V299I	KCNA1_uc021qts.1_Missense_Mutation_p.V299I	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	299					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTGGTAAGGGTTTTTAGAAT	0.552000														44			8		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53070202	53070202	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:53070202C>T	uc001sau.1	-	6	1391	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L	KRT1_uc001sav.1_Silent_p.L444L	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	444	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCAGGTCATTCAGCTTGTTCT	0.562000														31			7		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95372905	95372905	+	Silent	SNP	G	A	A	rs143390578		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:95372905G>A	uc001kiu.4	+	0	561	c.423G>A	c.(421-423)ggG>ggA	p.G141G		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	141	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TGGACATTGGGATAGTGGGTT	0.527000														55			17		0	0	1	0	0
SERPINE3	647174	broad.mit.edu	37	13	51922375	51922375	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:51922375C>T	uc001vfh.2	+	3	787	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	SERPINE3_uc010tgp.2_Nonsense_Mutation_p.Q243*	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	243					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						TGCAGGCCATCAGGTGGGGGT	0.597000														4			6		0	0	1	0	0
HELT	391723	broad.mit.edu	37	4	185940190	185940190	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:185940190G>A	uc011ckq.2	+	0	108	c.108G>A	c.(106-108)ccG>ccA	p.P36P	HELT_uc011cko.2_Intron|HELT_uc003ixa.3_Intron|HELT_uc011ckp.1_Intron	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	Homo sapiens helt bHLH transcription factor (HELT), mRNA.	36							DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGGGTGGACCGATGGCAGGGA	0.602000														22			23		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862462	5862462	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5862462G>A	uc010qzq.2	-	0	666	c.666C>T	c.(664-666)atC>atT	p.I222I	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCATAGAGGATCCTGATAT	0.463000														14			25		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50154705	50154705	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:50154705C>T	uc002poq.3	+	6	1183	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	353					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGCGGGTCTTCGTGGTGGGGA	0.751000														5			3		0	0	1	0	0
TRBV9	28586	broad.mit.edu	37	7	142239731	142239731	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:142239731G>A	uc011ksd.2	-	1	160	c.149C>T	c.(148-150)tCt>tTt	p.S50F	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TRBV9_uc022ann.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CCAGTACACAGAGAGGTCTCC	0.512000														46			14		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103063665	103063665	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:103063665G>A	uc002tbx.3	+	9	1692	c.1208G>A	c.(1207-1209)gGg>gAg	p.G403E	IL18RAP_uc010fiz.3_Missense_Mutation_p.G261E	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	403					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAGACGCTTGGGGGTAAGTTT	0.537000														71			62		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181705550	181705550	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:181705550C>T	uc009wxt.3	+	21	3597	c.3402C>T	c.(3400-3402)ttC>ttT	p.F1134F	CACNA1E_uc001gow.3_Silent_p.F1134F|CACNA1E_uc009wxs.3_Silent_p.F1115F|CACNA1E_uc001gox.1_Silent_p.F360F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1134					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						GCTCAATGTTCATCTTCAGCA	0.567000														8			9		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117308974	117308974	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:117308974C>T	uc001lcg.3	+	25	4109	c.3723C>T	c.(3721-3723)ttC>ttT	p.F1241F	ATRNL1_uc010qsm.2_Silent_p.F370F|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1241						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCAGTTGTTTCCTATCCTTAT	0.313000														26			8		0	0	1	0	0
NUP88	4927	broad.mit.edu	37	17	5307546	5307546	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:5307546G>A	uc010vsx.2	-	6	1154	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	NUP88_uc002gbo.2_Silent_p.S355S|NUP88_uc010cle.2_Silent_p.S354S|NUP88_uc010vsy.2_Silent_p.S355S	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	355					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GGTCAATCCTGGAATCCCAGG	0.378000														51			16		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196645183	196645183	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:196645183C>T	uc001gtj.4	+	3	655	c.415C>T	c.(415-417)Cct>Tct	p.P139S	CFH_uc001gti.4_Missense_Mutation_p.P139S|CFH_uc009wyw.3_Missense_Mutation_p.P139S|CFH_uc009wyx.3_Missense_Mutation_p.P139S	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	139	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAATGATATTCCTATATGTGA	0.279000														38			23		0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111591308	111591308	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:111591308C>T	uc001plt.3	+	10	1720	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	534					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						ACAACCCTTCCCTTAAGGACA	0.517000														43			48		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362659	9362659	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9362659G>A	uc002mlb.1	+	0	940	c.940G>A	c.(940-942)Gac>Aac	p.D314N		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GAGGAACAAGGACATTCAAAG	0.468000														23			36		0	0	1	0	0
DEFB134	613211	broad.mit.edu	37	8	11853717	11853717	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:11853717T>A	uc011kxn.2	-	0	44	c.44A>T	c.(43-45)gAt>gTt	p.D15V		NM_001033019	NP_001028191	Q4QY38	DB134_HUMAN	Homo sapiens defensin, beta 134 (DEFB134), mRNA.	15					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.159)		CAGCACTGGATCCCAAAGGAA	0.478000														78			45		0	0	1	0	0
CFP	5199	broad.mit.edu	37	X	47487635	47487635	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:47487635G>A	uc004dih.3	-	3	511	c.269C>T	c.(268-270)tCg>tTg	p.S90L	CFP_uc004dig.4_Missense_Mutation_p.S90L|CFP_uc004dii.1_Missense_Mutation_p.S26L|CFP_uc010nhu.2_Missense_Mutation_p.S90L	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	90	TSP type-1 1.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCACGTCACCGAACAGGGGGC	0.627000														8			3		0	0	1	0	0
UBE2V2	7336	broad.mit.edu	37	8	48962467	48962467	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:48962467C>T	uc003xqm.3	+	2	240	c.220C>T	c.(220-222)Cca>Tca	p.P74S		NM_003350	NP_003341	Q15819	UB2V2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2 variant 2 (UBE2V2), mRNA.	74					DNA double-strand break processing|cell proliferation|protein polyubiquitination|regulation of DNA repair	UBC13-MMS2 complex|cytoplasm|nucleus	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)	3		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)				ACCTAAATACCCAGAAGCTCC	0.299000								Rad6 pathway						32			21		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99314848	99314848	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:99314848C>T	uc003uru.3	-	5	576	c.473G>A	c.(472-474)aGa>aAa	p.R158K	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	158					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CCTCAGATTTCTCACCAACAC	0.502000														85			48		0	0	1	0	0
LOC285359	285359	broad.mit.edu	37	3	101431684	101431684	+	RNA	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:101431684G>A	uc003dvj.3	+	0		c.407G>A								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		TACAAACAAGGAATTCCCCTC	0.428000														54			19		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89979454	89979454	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:89979454G>A	uc003kju.3	+	27	5812	c.5716G>A	c.(5716-5718)Gac>Aac	p.D1906N	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1906					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGAACATAGACTCTGATCC	0.408000														21			10		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328855	3328855	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:3328855C>T	uc001akf.3	+	8	2176	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S	PRDM16_uc001ake.3_Silent_p.S698S|PRDM16_uc009vlh.3_Silent_p.S399S|PRDM16_uc001akc.3_Silent_p.S698S	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	698	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCATCGCATCCATTGCCGAGA	0.622000			T	EVI1	"""MDS, AML"""									47			30		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113332402	113332402	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:113332402G>A	uc010syl.2	+	19	2157	c.1795G>A	c.(1795-1797)Gga>Aga	p.G599R	RPH3A_uc001ttz.3_Missense_Mutation_p.G599R|RPH3A_uc001tty.3_Missense_Mutation_p.G595R|RPH3A_uc009zwe.1_Missense_Mutation_p.G594R|RPH3A_uc010sym.2_Missense_Mutation_p.G550R|RPH3A_uc001tua.3_Missense_Mutation_p.G359R	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	599	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ACCGGACATGGGAAAGAAGGC	0.433000														19			13		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58298797	58298797	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:58298797C>T	uc001vhq.1	+	3	3741	c.2849C>T	c.(2848-2850)tCt>tTt	p.S950F	PCDH17_uc010aec.1_Missense_Mutation_p.S949F|PCDH17_uc001vhr.1_Missense_Mutation_p.S39F	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	950					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTTGGTCATTCTGACAGGTGC	0.423000														26			32		0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73996299	73996299	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:73996299C>T	uc002avv.1	+	4	1267	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	CD276_uc010bjd.1_Missense_Mutation_p.R199W|CD276_uc002avu.1_Missense_Mutation_p.R345W|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Missense_Mutation_p.R291W	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	345	Ig-like V-type 2.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CGTGAGCATCCGGGATTTCGG	0.672000														22			9		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43639593	43639593	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:43639593C>T	uc004dfz.4	-	9	1251	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	MAOB_uc011mkx.2_Missense_Mutation_p.E343K|MAOB_uc011mky.2_Missense_Mutation_p.E343K	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	359					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	p.E359K(4)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TGTTACCTTTCCTCTTTGGTA	0.418000														3			9		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75094879	75094879	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:75094879C>T	uc002snd.3	+	2	2269	c.343C>T	c.(343-345)Cct>Tct	p.P115S		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	115	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTATGCCATCCCTGAGGACAT	0.522000														212			104		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502706	94502706	+	Missense_Mutation	SNP	C	T	T	rs61752425		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:94502706C>T	uc001dqh.3	-	24	3912	c.3808G>A	c.(3808-3810)Gaa>Aaa	p.E1270K		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1270					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E1270D(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTACCTCTTCCAGGGGAGTG	0.453000														53			35		0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16332214	16332214	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:16332214C>T	uc002gpy.3	+	9	1904	c.1505C>T	c.(1504-1506)gCg>gTg	p.A502V	TRPV2_uc002gpz.3_Missense_Mutation_p.A72V	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	502					sensory perception	integral to plasma membrane|melanosome	calcium channel activity	p.A502V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTTGTGTCTGCGCTGGTGCTG	0.582000														71			30		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56496083	56496083	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:56496083G>A	uc003pcy.4	-	15	2565	c.2457C>T	c.(2455-2457)acC>acT	p.T819T	DST_uc021zay.1_Silent_p.T1185T|DST_uc021zax.1_Silent_p.T819T|DST_uc003pdc.4_Silent_p.T819T|DST_uc003pdd.4_Silent_p.T819T	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	1145					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGATCGTAGGGTAGGGACTG	0.383000														20			24		0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128047036	128047036	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:128047036G>A	uc002toh.1	-	5	794	c.699C>T	c.(697-699)tcC>tcT	p.S233S	ERCC3_uc002toe.1_5'UTR|ERCC3_uc002tof.1_Silent_p.S169S|ERCC3_uc002tog.1_Silent_p.S169S|ERCC3_uc010flx.1_5'UTR|ERCC3_uc010yzh.1_Non-coding_Transcript	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	233					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTGTCACTCGGGAAGTGGAGG	0.463000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					35			20		0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436157	72436157	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:72436157C>A	uc002jkp.3	+	1	888	c.377C>A	c.(376-378)aCc>aAc	p.T126N	GPRC5C_uc002jkq.3_Missense_Mutation_p.T126N|GPRC5C_uc002jkr.3_Missense_Mutation_p.T93N|GPRC5C_uc002jkt.3_Missense_Mutation_p.T81N	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	81						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GTGCAGGACACCAAGAAACGG	0.627000														68			20		2.94398e-08	2.96781e-08	1	1	0
MAPK4	5596	broad.mit.edu	37	18	48256213	48256213	+	Missense_Mutation	SNP	G	A	A	rs7506742		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:48256213G>A	uc002lev.3	+	5	2753	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	MAPK4_uc010xdm.2_Missense_Mutation_p.E374K|MAPK4_uc010doz.3_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	585					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTTCTCCAAAGAAAGGTGGTG	0.687000														20			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711128	140711128	+	Missense_Mutation	SNP	C	T	T	rs145926133		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140711128C>T	uc003lji.2	+	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	PCDHGC5_uc011dan.2_Missense_Mutation_p.R293C	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	294	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R293C(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAATATTTCGTTTAGATTC	0.428000														40			17		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137653784	137653784	+	Missense_Mutation	SNP	C	T	T	rs150890005		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:137653784C>T	uc004cfe.3	+	18	2331	c.1949C>T	c.(1948-1950)cCt>cTt	p.P650L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	650	Triple-helical region.			P -> L (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACCCTGGTCCTTCCGGCCCA	0.572000														69			18		0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130106	187130106	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:187130106C>T	uc003iyw.4	+	8	1482	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	CYP4V2_uc010ism.3_Non-coding_Transcript	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	393					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CGCCTTTTTCCTTCTGTTCCT	0.428000														68			25		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110475	151110475	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:151110475G>A	uc001ewv.3	-	8	990	c.654C>T	c.(652-654)tcC>tcT	p.S218S	SEMA6C_uc001ewu.3_Silent_p.S218S|SEMA6C_uc001eww.3_Intron|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	218	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGCCACTTGGAGTCATACT	0.617000														26			18		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595854	36595854	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:36595854C>T	uc021qgb.1	+	0	1000	c.1000C>T	c.(1000-1002)Cca>Tca	p.P334S	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.P334S	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	334					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGCCGATATCCATGCTTCCC	0.507000									Familial Hemophagocytic Lymphohistiocytosis					26			34		0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538881	31538881	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:31538881C>T	uc011acv.2	-	0	91	c.55G>A	c.(55-57)Gtg>Atg	p.V19M		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	19					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						AGAGTCCCCACCATGCCAAGG	0.488000														50			13		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925593	55925593	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:55925593C>T	uc003pcs.3	-	27	2585	c.2353_splice	c.e27-1	p.G785_splice	COL21A1_uc010jzz.3_Splice_Site_p.G170_splice|COL21A1_uc011dxg.2_Splice_Site_p.G158_splice|COL21A1_uc011dxh.2_Splice_Site_p.G170_splice|COL21A1_uc003pcr.3_Splice_Site_p.G142_splice	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	785	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AACTCTCTTCCCTGCATCAAA	0.318000														44			33		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55759151	55759151	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:55759151G>A	uc010spk.2	+	0	257	c.257G>A	c.(256-258)gGa>gAa	p.G86E		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G86E(2)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GTTGTGACAGGAAACAGAACC	0.433000														58			38		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062528	194062528	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:194062528C>T	uc003fts.3	-	1	994	c.904G>A	c.(904-906)Gag>Aag	p.E302K	CPN2_uc021xix.1_Missense_Mutation_p.E302K	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	302					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCGACAGTCTCCAGCTGGTTA	0.587000														33			22		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632954	32632954	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:32632954C>T	uc003zrg.1	-	0	2714	c.2624G>A	c.(2623-2625)gGg>gAg	p.G875E	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	875					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.G875G(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAATCCATCCCTGTGCGTTT	0.458000														31			46		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999821	55999821	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:55999821C>T	uc010rjc.2	-	0	841	c.841G>A	c.(841-843)Gga>Aga	p.G281R		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGGTGAGCTCCACATGTGGAG	0.438000														75			47		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111602023	111602023	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:111602023G>A	uc003kpv.1	-	4	614	c.340C>T	c.(340-342)Cag>Tag	p.Q114*	EPB41L4A_uc003kpw.1_Nonsense_Mutation_p.Q114*	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	114	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AAGAAAAACTGATATCTAAAA	0.463000														13			11		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937270	21937270	+	RNA	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:21937270C>T	uc010tzj.1	-	0		c.3470G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ATGATCAATTCCTTCTTTGGC	0.378000														96			6		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21840765	21840765	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:21840765G>A	uc003svc.3	+	62	10089	c.10058G>A	c.(10057-10059)cGa>cAa	p.R3353Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3353	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3353Q(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATCTGGATCGAAATCTGAGC	0.368000									Kartagener syndrome					8			6		0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27634475	27634475	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:27634475C>T	uc003xgg.3	+	2	733	c.650C>T	c.(649-651)tCt>tTt	p.S217F	ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Missense_Mutation_p.S217F	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	217					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AGAAAAAAATCTTCTCTTAGA	0.408000									SC Phocomelia syndrome					37			10		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167298131	167298131	+	Silent	SNP	G	A	A	rs72886662	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:167298131G>A	uc002udu.2	-	13	2062	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	644					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GCTTCATGCCGAATGCAGCAG	0.433000														26			34		0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399826	46399826	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:46399826G>A	uc003cpn.4	+	1	1293	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	CCR2_uc003cpm.4_Missense_Mutation_p.E270K|CCR2_uc021wxa.1_Missense_Mutation_p.E270K	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	270					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CACCTTCCAGGAATTCTTCGG	0.473000														93			41		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440317	40440317	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:40440317G>A	uc003gvc.2	-	3	1304	c.594C>T	c.(592-594)ttC>ttT	p.F198F	RBM47_uc003gvd.2_Silent_p.F198F|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.F160F|RBM47_uc003gvg.1_Silent_p.F198F	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	198	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGTACTCCACGAAGGCGAAGC	0.662000														24			37		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8717784	8717784	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:8717784C>T	uc002wnb.3	+	19	2156	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F	PLCB1_uc010zrb.1_Missense_Mutation_p.S617F|PLCB1_uc002wna.3_Missense_Mutation_p.S718F|PLCB1_uc002wnc.1_Missense_Mutation_p.S617F|PLCB1_uc002wnd.1_Missense_Mutation_p.S295F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	718	C2.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.S718T(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACCAAAACATCCCAAGGAAAT	0.398000														43			18		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10025099	10025099	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:10025099C>T	uc002wno.3	+	4	997	c.604C>T	c.(604-606)Cga>Tga	p.R202*	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Nonsense_Mutation_p.R202*|ANKRD5_uc010gbz.3_Nonsense_Mutation_p.R13*	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	202							calcium ion binding	p.R202*(2)		breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						GGAAATAGTTCGAGGCATATT	0.438000														85			54		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994994	11994994	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:11994994C>T	uc003wvc.1	-	0	1276	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	426					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GTGGCTCTTTCCACCAAGCGC	0.557000														127			28		0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32800149	32800149	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32800149G>A	uc011dqf.1	-	6	1355	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	TAP2_uc003ocb.1_Silent_p.S411S|TAP2_uc003occ.3_Silent_p.S411S|TAP2_uc003ocd.3_Silent_p.S411S	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	411	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										AGATCATAAAGGAAAGCAGGC	0.567000														50			15		0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124266255	124266255	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:124266255G>A	uc001lgj.2	+	3	954	c.826G>A	c.(826-828)Gga>Aga	p.G276R		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	276	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GCTGCGGCCGGGAGAGTTCGT	0.587000														75			10		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975246	118975246	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:118975246C>T	uc003ibx.3	+	1	584	c.181C>T	c.(181-183)Caa>Taa	p.Q61*	NDST3_uc011cgf.1_Nonsense_Mutation_p.Q61*|NDST3_uc003ibw.3_Nonsense_Mutation_p.Q61*	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	61	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCTACCATATCAACTAATGGA	0.448000														44			31		0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887692	30887692	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:30887692C>T	uc003aid.2	-	10	1049	c.949G>A	c.(949-951)Ggg>Agg	p.G317R	SEC14L4_uc011akz.1_Missense_Mutation_p.G317R|SEC14L4_uc003aie.2_Missense_Mutation_p.G302R|SEC14L4_uc003aif.2_Missense_Mutation_p.G263R	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	317	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGGAAAACCCCAAAGCCGATG	0.617000														25			26		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220355655	220355655	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:220355655G>A	uc010fwg.3	+	37	9362	c.9362G>A	c.(9361-9363)cGc>cAc	p.R3121H		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3121	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTTGGCCACCGCACGGGCACG	0.662000														25			7		0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85905523	85905523	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:85905523C>T	uc004ams.2	-	12	1392	c.1190G>A	c.(1189-1191)gGt>gAt	p.G397D	FRMD3_uc004amr.1_Missense_Mutation_p.G397D|FRMD3_uc022bja.1_Missense_Mutation_p.G353D|FRMD3_uc022biz.1_Missense_Mutation_p.G203D	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	397						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTACCCTCACCCAGAGGAAG	0.507000														78			17		0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119500506	119500506	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:119500506G>A	uc004esr.3	+	1	274	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ATP1B4_uc004esq.3_Missense_Mutation_p.E64K|ATP1B4_uc011mtx.2_Missense_Mutation_p.E64K|ATP1B4_uc011mty.2_Missense_Mutation_p.E64K	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	64	Glu-rich.				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						agaagaggaggaagaggagga	0.527000														13			14		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69020454	69020454	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:69020454G>A	uc003xxv.1	+	23	2853	c.2826G>A	c.(2824-2826)gtG>gtA	p.V942V	PREX2_uc011lez.1_Silent_p.V877V	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	942					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGTCAATGTGATGGAAGTTT	0.413000														27			14		0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223554030	223554030	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:223554030G>A	uc010fws.1	+	2	368	c.320G>A	c.(319-321)gGg>gAg	p.G107E	MOGAT1_uc010fwt.1_Missense_Mutation_p.G67E	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	107					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TATATATTTGGGTTTCACCCC	0.338000														15			22		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75037036	75037036	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:75037036C>T	uc009xrc.3	-	21	2813	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	TTC18_uc001jty.3_Missense_Mutation_p.E898K|TTC18_uc001jtv.4_Missense_Mutation_p.E2K|TTC18_uc001jtw.4_Missense_Mutation_p.E2K|TTC18_uc001jtx.3_Missense_Mutation_p.E279K	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	898							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGTATGGTCTCCATGAAGATG	0.383000														73			14		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132213988	132213988	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:132213988C>T	uc003eor.3	+	34	4063	c.3998C>T	c.(3997-3999)cCt>cTt	p.P1333L		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1333	J.						heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAGTACCACCCTGATAAGAAT	0.393000														16			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641392	179641392	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179641392C>T	uc021vsy.1	-	27	5424	c.5199G>A	c.(5197-5199)acG>acA	p.T1733T	TTN_uc021vsz.1_Silent_p.T1687T|TTN_uc021vta.1_Silent_p.T1687T|TTN_uc021vtb.1_Silent_p.T1687T|TTN_uc002unb.2_Silent_p.T1733T|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1733	Ig-like 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCACCATCGTTGGGTCAC	0.473000														22			26		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157805889	157805889	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:157805889C>T	uc001frk.4	-	2	255	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	38	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.E38*(2)|p.V37G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTTCCACCTCCACCCGCCCT	0.632000														63			16		0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131298347	131298347	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:131298347G>A	uc003kvx.2	-	17	1847	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.R545W|ACSL6_uc003kvy.2_Missense_Mutation_p.R580W|ACSL6_uc003kvz.2_Missense_Mutation_p.R480W|ACSL6_uc021ydh.1_Missense_Mutation_p.R480W|ACSL6_uc010jdo.2_Missense_Mutation_p.R555W|ACSL6_uc003kwa.2_Missense_Mutation_p.R566W|ACSL6_uc003kvw.2_Missense_Mutation_p.R201W|ACSL6_uc010jdn.2_Missense_Mutation_p.R570W	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	555					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTTTTTCCGATCAATAATT	0.428000														28			23		0	0	1	0	0
ARL16	339231	broad.mit.edu	37	17	79650825	79650826	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:79650825_79650826GG>AA	uc002kbf.3	-	0	129_130	c.30_31CC>TT	c.(28-33)agccgc>agTTgc	p.R11C	ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank	NM_001040025	NP_001035114	Q0P5N6	ARL16_HUMAN	Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA.	11							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCGGCGCCGCGGCTCAAGGCCC	0.629000														22			10		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102964478	102964478	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:102964478C>T	uc002tbu.1	+	8	1315	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	348					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCCTGGTTATCATCCTAAAAA	0.348000														26			6		0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58121464	58121464	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:58121464A>C	uc002iyk.1	-	19	3023	c.3006T>G	c.(3004-3006)aaT>aaG	p.N1002K	MIR4737_uc021uba.1_5'Flank|HEATR6_uc010ddk.1_Missense_Mutation_p.N541K|HEATR6_uc010wos.1_Missense_Mutation_p.N722K	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	1002							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ATGTCAGGGCATTGTAGGCCT	0.547000														65			27		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141764245	141764245	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:141764245C>T	uc003vwy.3	+	36	4461	c.4407C>T	c.(4405-4407)atC>atT	p.I1469I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1469	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCAGCAGATCCTCCCAGACG	0.582000														10			3		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89990378	89990378	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:89990378C>T	uc003kju.3	+	32	7901	c.7805C>T	c.(7804-7806)cCc>cTc	p.P2602L	GPR98_uc003kjt.3_Missense_Mutation_p.P308L|GPR98_uc003kjv.3_Missense_Mutation_p.P202L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2602					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGGAGCAGCCCCAAACCTTG	0.468000														144			101		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873406	55873406	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:55873406G>A	uc010riy.2	+	0	888	c.888G>A	c.(886-888)gaG>gaA	p.E296E		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GAAACAAAGAGGTGAAAAATG	0.368000										HNSCC(53;0.14)				76			34		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120416	21120416	+	Missense_Mutation	SNP	C	T	T	rs45461595		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:21120416C>T	uc001iqi.3	-	14	1943	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	516					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGGCCATCTCGGATGCTTTC	0.433000														45			14		0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773755	25773755	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:25773755C>T	uc003nfe.3	+	7	959	c.840C>T	c.(838-840)ggC>ggT	p.G280G	SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Silent_p.G41G|SLC17A4_uc003nfg.3_Silent_p.G217G|SLC17A4_uc010jqa.3_5'UTR	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	280					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTTCACCAGGCTGGTCTCTTC	0.458000														47			23		0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152638129	152638129	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:152638129G>A	uc003iml.3	-	3	580	c.539C>T	c.(538-540)cCc>cTc	p.P180L	PET112_uc003imm.4_Missense_Mutation_p.P180L	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	180						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACCGTCTTGGGGATCACCTG	0.527000														115			36		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106865211	106865211	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:106865211C>T	uc001kyi.1	+	6	1377	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	384						integral to membrane	neuropeptide receptor activity	p.P384L(1)|p.G383W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TAGAAGTGGGCCTTTTGCCCG	0.478000														81			22		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41010132	41010132	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:41010132T>A	uc003jmj.4	-	30	3675	c.3185A>T	c.(3184-3186)cAa>cTa	p.Q1062L	HEATR7B2_uc003jmi.4_Missense_Mutation_p.Q617L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1062							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TTCTTCTTTTTGTCTGAGGAC	0.408000														38			22		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35748950	35748950	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:35748950C>T	uc010zvu.2	-	17	2277	c.2186G>A	c.(2185-2187)gGg>gAg	p.G729E	C20orf132_uc002xgk.3_Missense_Mutation_p.G361E	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	298										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TTTATCATTCCCTCGGTTAAG	0.433000														26			14		0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8758052	8758052	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:8758052G>A	uc001qur.2	-	2	265	c.186C>T	c.(184-186)ctC>ctT	p.L62L	AICDA_uc001qup.1_Silent_p.L57L|AICDA_uc001quq.1_Silent_p.L57L|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	62					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AGATGTAGCGGAGGAAGAGCA	0.577000														46			9		0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976213	4976213	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4976213G>A	uc010qyt.2	-	0	731	c.731C>T	c.(730-732)tCa>tTa	p.S244L		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGTGAAACACAAGT	0.478000														110			32		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459464	186459464	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:186459464C>T	uc011bsa.2	+	9	1513	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	427	His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AGGGCATACTCGTAGACATGA	0.468000														41			27		0	0	1	0	0
FOLR4	390243	broad.mit.edu	37	11	94038906	94038906	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:94038906G>A	uc021qou.1	+	0	104	c.104G>A	c.(103-105)aGa>aAa	p.R35K		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	35						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CACCACAAGAGAGTGCCCAGC	0.572000														24			28		0	0	1	0	0
CLDN6	9074	broad.mit.edu	37	16	3065605	3065605	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:3065605C>T	uc021tbb.1	-	0	418	c.418G>A	c.(418-420)Gcg>Acg	p.A140T	CLDN6_uc002csu.4_Missense_Mutation_p.A140T	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	140					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						ATGGCATGCGCCGTCCAGCAC	0.627000														20			4		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139696712	139696712	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:139696712C>T	uc003yvd.3	-	39	3415	c.2968_splice	c.e39-1	p.G990_splice	COL22A1_uc011ljo.2_Splice_Site_p.G290_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	990	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCACGGAGTCCCTGGAGAAAT	0.537000										HNSCC(7;0.00092)				79			44		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42863023	42863023	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:42863023G>A	uc002otl.4	+	28	5694	c.5059G>A	c.(5059-5061)Gaa>Aaa	p.E1687K	MEGF8_uc002otm.4_Missense_Mutation_p.E1295K	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1754						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGGTTCCGGGAAGTCAGGAA	0.577000														22			4		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133072469	133072469	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:133072469C>T	uc003qdt.3	-	4	1026	c.1015G>A	c.(1015-1017)Gga>Aga	p.G339R	VNN2_uc003qds.3_Missense_Mutation_p.G48R|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.G286R	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	339					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GAAATAAATCCCCTGAAAGTG	0.433000														42			15		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837869	93837869	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:93837869G>A	uc001pep.2	+	15	3015	c.2858G>A	c.(2857-2859)cGa>cAa	p.R953Q	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	953	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAAGATCCACGAGATTTTAAG	0.343000														99			58		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141122349	141122349	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:141122349C>T	uc002tvj.1	-	71	11984	c.11012G>A	c.(11011-11013)gGa>gAa	p.G3671E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3671					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATATATTTCCTCCTTTATT	0.378000										TSP Lung(27;0.18)				32			29		0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89039230	89039230	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:89039230T>C	uc001xww.3	+	5	965	c.740T>C	c.(739-741)cTt>cCt	p.L247P	ZC3H14_uc010twd.2_Missense_Mutation_p.L247P|ZC3H14_uc010twe.2_Missense_Mutation_p.L247P|ZC3H14_uc001xwx.3_Missense_Mutation_p.L247P|ZC3H14_uc010twf.2_Missense_Mutation_p.L92P|ZC3H14_uc001xwy.3_Missense_Mutation_p.L213P|ZC3H14_uc010twg.2_Missense_Mutation_p.L92P|ZC3H14_uc001xxa.3_5'Flank	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	247						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GCCAAGCAGCTTGATATGCAG	0.403000														78			14		0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21890667	21890667	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:21890667G>A	uc001bet.3	+	5	863	c.606G>A	c.(604-606)aaG>aaA	p.K202K	ALPL_uc010odo.2_Silent_p.K147K|ALPL_uc010odp.2_Silent_p.K125K|ALPL_uc010odn.2_Silent_p.K150K|ALPL_uc001beu.4_Silent_p.K202K	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	202					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	AGGGCTGTAAGGACATCGCCT	0.657000														35			23		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524184	37524184	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:37524184G>A	uc003aqv.1	-	9	1739	c.1608C>T	c.(1606-1608)taC>taT	p.Y536Y		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	536					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGAGGGACAAGTAGGCATCAG	0.637000														7			13		0	0	1	0	0
PANK3	79646	broad.mit.edu	37	5	167995997	167995998	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:167995997_167995998GG>AA	uc003lzz.2	-	1	360_361	c.34_35CC>TT	c.(34-36)cca>TTa	p.P12L		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Homo sapiens pantothenate kinase 3 (PANK3), mRNA.	12					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		GCCAAACCATGGGAAAGCTATG	0.322000														46			22		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22942275	22942275	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:22942275G>A	uc021urt.1	-	3	591	c.436C>T	c.(436-438)Cag>Tag	p.Q146*		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGTTACACTGAAATATTTTT	0.284000														43			13		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159686486	159686486	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:159686486G>A	uc003lyb.1	-	4	969	c.717C>T	c.(715-717)gtC>gtT	p.V239V	CCNJL_uc011dee.1_Silent_p.V191V|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Silent_p.V191V	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	239						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGCAGGGTGACCTCTAGGA	0.632000														49			25		0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67485599	67485599	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:67485599C>T	uc003xwj.3	-	11	2020	c.1613_splice	c.e11+1	p.G538_splice	MYBL1_uc003xwl.3_Splice_Site_p.G538_splice|MYBL1_uc003xwk.3_Splice_Site_p.G537_splice	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	538	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ACCTACTTACCCTACATTTTC	0.343000														89			38		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315495	125315495	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:125315495G>A	uc011lyx.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CAAGGGATGGGAAAACCAGGC	0.448000														52			19		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740506	62740506	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:62740506G>A	uc001dah.4	-	2	647	c.270C>T	c.(268-270)aaC>aaT	p.N90N	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	90										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CGGGAGACCAGTTTTGGAGGG	0.612000														53			60		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35237568	35237568	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:35237568G>C	uc002yta.1	+	31	4272	c.4004G>C	c.(4003-4005)cGc>cCc	p.R1335P	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.R1330P|ITSN1_uc002ytj.2_Missense_Mutation_p.R1330P|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1335	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TTCTGCAGCCGCCAGCTCAAC	0.592000														12			9		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117282491	117282491	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:117282491G>A	uc003vjd.3	+	23	3850	c.3718_splice	c.e23-1	p.V1240_splice	CFTR_uc011knq.2_Splice_Site_p.V646_splice	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1240	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTACCTTATAGGTGGGCCTCT	0.378000									Cystic Fibrosis					44			16		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70477607	70477607	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:70477607G>A	uc001dep.3	+	9	1048	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	340						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATTACCCAGAGAAGTGAGAAA	0.333000														25			3		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936707	21936707	+	RNA	SNP	G	A	A	rs71399700		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:21936707G>A	uc010tzj.1	-	0		c.4033C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ATCGATTTAAGAAATCCCGAA	0.398000														145			28		0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90034415	90034415	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:90034415T>G	uc003hsk.3	+	0	448	c.290T>G	c.(289-291)gTg>gGg	p.V97G	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA.	97	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		GGGATTCCAGTGTCCGGAACG	0.403000														43			15		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389599	20389599	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20389599C>G	uc010tkw.2	+	0	834	c.834C>G	c.(832-834)ttC>ttG	p.F278L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACACTGTTTTCACCCCCGTCC	0.393000														166			38		0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13604142	13604142	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:13604142G>A	uc002woi.3	-	3	350	c.233C>T	c.(232-234)gCc>gTc	p.A78V	TASP1_uc010zri.1_Non-coding_Transcript|TASP1_uc010zrj.1_Non-coding_Transcript|TASP1_uc010zrk.2_Missense_Mutation_p.A78V	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	Homo sapiens taspase, threonine aspartase, 1 (TASP1), mRNA.	78					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	p.A78T(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AAGAGCACCGGCCTGCAGCTT	0.383000														26			16		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980473	121980473	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:121980473G>A	uc003eew.4	+	3	1029	c.591G>A	c.(589-591)atG>atA	p.M197I	CASR_uc003eev.4_Missense_Mutation_p.M197I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	197					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCACTGCCATGGCAGACATCA	0.532000														107			53		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43950960	43950960	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:43950960G>A	uc003bdy.2	-	26	3751	c.3437C>T	c.(3436-3438)gCt>gTt	p.A1146V	EFCAB6_uc003bdz.2_Missense_Mutation_p.A994V|EFCAB6_uc010gzi.2_Missense_Mutation_p.A994V|EFCAB6_uc010gzj.1_Missense_Mutation_p.A372V	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CATTTTCTCAGCCCACTCATC	0.537000														15			18		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229541	140229541	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140229541C>T	uc003lhu.2	+	0	2185	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.N487N	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	501	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCCCTGGTGT	0.667000														81			47		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49013363	49013363	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:49013363G>A	uc002pjk.3	-	3	365	c.365C>T	c.(364-366)tCc>tTc	p.S122F		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGACTGTGAGGAGGAGGTCTC	0.627000														20			9		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54173468	54173468	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:54173468C>T	uc003pcj.2	+	0	266	c.120C>T	c.(118-120)acC>acT	p.T40T	TINAG_uc003pci.3_Silent_p.T40T|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	40					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.H39D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGAATCACACCGTTTTGCAAG	0.398000														82			70		0	0	1	0	0
GDNF	2668	broad.mit.edu	37	5	37815934	37815934	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:37815934G>A	uc011cpi.2	-	2	655	c.455C>T	c.(454-456)gCt>gTt	p.A152V	GDNF_uc011cpd.2_Missense_Mutation_p.A100V|GDNF_uc011cpe.2_Missense_Mutation_p.A126V|GDNF_uc011cpf.2_Missense_Mutation_p.A126V|GDNF_uc011cpg.2_Missense_Mutation_p.A169V|GDNF_uc011cph.2_Missense_Mutation_p.A143V	NM_000514	NP_000505	P39905	GDNF_HUMAN	Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.	152					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CGTTGTCTCAGCTGCATCGCA	0.443000														56			31		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20418721	20418721	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:20418721C>T	uc003suu.3	+	3	1141	c.436C>T	c.(436-438)Cct>Tct	p.P146S	ITGB8_uc011jyh.2_Missense_Mutation_p.P11S|ITGB8_uc003sut.3_Missense_Mutation_p.P146S	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	146	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.Y145C(1)		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						GAAGAAATATCCTGTGGATCT	0.313000														48			35		0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558247	159558247	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:159558247G>A	uc001ftv.3	+	1	517	c.421G>A	c.(421-423)Ggt>Agt	p.G141S		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	141	Pentaxin.		G -> S (in a breast cancer sample; somatic mutation).		acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.G141S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TCTGCGACAGGGTTACTTTGT	0.517000														30			21		0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66667037	66667037	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:66667037C>T	uc002sdu.3	+	2	759	c.302C>T	c.(301-303)cCc>cTc	p.P101L	MEIS1_uc002sdt.3_Missense_Mutation_p.P101L|MEIS1_uc010yqh.2_Non-coding_Transcript|MEIS1_uc010yqi.2_Missense_Mutation_p.P36L|MEIS1_uc002sdw.1_5'Flank	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Homo sapiens Meis homeobox 1 (MEIS1), mRNA.	101							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ACTTGTACCCCCCGCGAGCCG	0.478000														27			16		0	0	1	0	0
CKMT1B	1159	broad.mit.edu	37	15	43891435	43891435	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:43891435C>T	uc001zsc.3	+	9	1610	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	CKMT1B_uc010uds.2_Silent_p.I437I|CKMT1B_uc010bdj.3_Non-coding_Transcript	NM_020990	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1B (CKMT1B), nuclear gene encoding mitochondrial protein, mRNA.	406					creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GCCAGGATATCCGCATCCCCA	0.498000														76			45		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231253291	231253291	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:231253291C>T	uc010fxm.1	+	9	893	c.802C>T	c.(802-804)Cct>Tct	p.P268S	SP140L_uc010fxo.1_Missense_Mutation_p.P75S	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	268						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GAGAGGCAAACCTGGAACCCA	0.363000														11			7		0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89422351	89422351	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:89422351C>T	uc002bnd.3	-	4	910	c.829G>A	c.(829-831)Ggc>Agc	p.G277S	HAPLN3_uc002bnc.3_Missense_Mutation_p.G215S|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	215	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGCAGCCAGCCCGCGTTGCAC	0.711000											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			14		0	0	1	0	0
FZD3	7976	broad.mit.edu	37	8	28420432	28420432	+	Silent	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:28420432T>C	uc003xgx.3	+	7	2434	c.1905T>C	c.(1903-1905)caT>caC	p.H635H	FZD3_uc010lvb.3_Silent_p.H635H	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	635					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AGTCACGACATAGCAGCATCA	0.453000														39			14		0	0	1	0	0
PKDCC	91461	broad.mit.edu	37	2	42284745	42284745	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:42284745C>T	uc002rsg.3	+	6	1578	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	Homo sapiens protein kinase domain containing, cytoplasmic homolog (mouse) (PKDCC), mRNA.	467	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						CCCCCCAGGTCGGCAGCTGGT	0.532000														14			5		0	0	1	0	0
IL15	3600	broad.mit.edu	37	4	142649122	142649122	+	Silent	SNP	G	A	A	rs143236056	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:142649122G>A	uc003iis.3	+	5	599	c.225G>A	c.(223-225)acG>acA	p.T75T	IL15_uc010iol.3_Silent_p.T48T|IL15_uc003iit.3_Silent_p.T75T	NM_000585	NP_000576	P40933	IL15_HUMAN	Homo sapiens interleukin 15 (IL15), transcript variant 3, mRNA.	75					cell-cell signaling|immune response|positive regulation of interleukin-17 production	Golgi apparatus|endosome|extracellular space|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					CTTTATATACGGAAAGTGATG	0.264000														29			6		0	0	1	0	0
STMN1	3925	broad.mit.edu	37	1	26230203	26230203	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:26230203G>A	uc010oev.2	-	2	291	c.115C>T	c.(115-117)Cct>Tct	p.P39S	STMN1_uc001bkz.3_Missense_Mutation_p.P39S|STMN1_uc001blb.3_Missense_Mutation_p.P39S|STMN1_uc001bla.3_Missense_Mutation_p.P39S|STMN1_uc001blc.3_Missense_Mutation_p.P39S	NM_001145454	NP_001138926	P16949	STMN1_HUMAN	Homo sapiens stathmin 1 (STMN1), transcript variant 4, mRNA.	39					cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTTGGAGGGGAAAGGGGG	0.468000														109			27		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13770869	13770869	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:13770869G>A	uc003jfd.2	-	55	9636	c.9594C>T	c.(9592-9594)acC>acT	p.T3198T	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3198	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3197W(2)|p.R3197Q(2)|p.R3197R(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTTGGCCAGGGTCCGCACCT	0.468000									Kartagener syndrome					38			20		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542844	55542844	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:55542844C>T	uc003xsd.1	+	3	6550	c.6402C>T	c.(6400-6402)ttC>ttT	p.F2134F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2134					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAATCTTTTCATTTGGGAAG	0.318000														30			17		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61463602	61463602	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:61463602G>A	uc002ljl.3	+	4	535	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	SERPINB7_uc002ljm.3_Missense_Mutation_p.E147K|SERPINB7_uc010xet.2_Missense_Mutation_p.E130K|SERPINB7_uc010dqg.3_Missense_Mutation_p.E147K	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	147					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TAAGTGGGTTGAAAATGAAAC	0.353000														33			11		0	0	1	0	0
INSL4	3641	broad.mit.edu	37	9	5233772	5233772	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:5233772G>A	uc003ziy.3	+	1	420	c.315G>A	c.(313-315)aaG>aaA	p.K105K		NM_002195	NP_002186	Q14641	INSL4_HUMAN	Homo sapiens insulin-like 4 (placenta) (INSL4), mRNA.	105					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CATCATTGAAGAAAATAATAC	0.388000														20			15		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138656161	138656161	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:138656161G>A	uc003qhu.3	+	32	6349	c.6178G>A	c.(6178-6180)Gac>Aac	p.D2060N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	2060					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGGGGCCAGGACTCCCCGCT	0.597000														0			4		0	0	1	0	0
IPW	3653	broad.mit.edu	37	15	25334973	25334973	+	RNA	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:25334973G>A	uc001yyb.4	+	4		c.716G>A			IPW_uc001yxh.1_Intron|IPW_uc001yxm.1_Intron|IPW_uc001yxn.4_Intron|IPW_uc001yxy.3_Non-coding_Transcript|IPW_uc001yyd.3_Non-coding_Transcript|IPW_uc001yyg.1_5'Flank|SNORD116-23_uc001yyh.3_5'Flank					Homo sapiens imprinted in Prader-Willi syndrome (non-protein coding) (IPW), non-coding RNA.																		GGGACACATGGAGTGTGGGCT	0.512000														15			8		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37891816	37891816	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:37891816G>A	uc003asx.1	-	13	2271	c.2254C>T	c.(2254-2256)Ccc>Tcc	p.P752S	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Missense_Mutation_p.P70S|CARD10_uc003asw.1_Missense_Mutation_p.P466S|CARD10_uc003asy.1_Missense_Mutation_p.P752S	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	752					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)					AGAGTGAGGGGGTCAACCCGG	0.642000														14			8		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50227719	50227719	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:50227719G>A	uc001jhf.2	-	7	968	c.939C>T	c.(937-939)atC>atT	p.I313I		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	313						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CCTCGAAGAGGATCTGGGCGT	0.517000														23			7		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179632519	179632519	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:179632519G>A	uc010pnp.2	+	15	3060	c.2542G>A	c.(2542-2544)Gat>Aat	p.D848N	TDRD5_uc021pfm.1_Missense_Mutation_p.D794N|TDRD5_uc001gnf.2_Missense_Mutation_p.D794N|TDRD5_uc021pfn.1_Missense_Mutation_p.D848N|TDRD5_uc001gnh.2_Missense_Mutation_p.D349N	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	825					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TACATGGGATGATTCTTGGCA	0.408000														25			11		0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112237755	112237755	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:112237755G>A	uc001tst.3	+	10	1390	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	ALDH2_uc010syi.2_Missense_Mutation_p.E385K	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	432					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	GACCATAGAGGAGGTTGTTGG	0.572000			T	HMGA2	leiomyoma									17			12		0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26087697	26087697	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:26087697T>A	uc003nfx.1	+	0	189	c.29T>A	c.(28-30)cTc>cAc	p.L10H	HFE_uc003nfy.1_Missense_Mutation_p.L10H|HFE_uc010jqe.1_Missense_Mutation_p.L10H|HFE_uc003nfz.1_Missense_Mutation_p.L10H|HFE_uc003ngd.1_Missense_Mutation_p.L10H|HFE_uc003nga.1_Missense_Mutation_p.L10H|HFE_uc003ngb.1_Missense_Mutation_p.L10H|HFE_uc003ngc.1_Missense_Mutation_p.L10H|HFE_uc003nge.1_Missense_Mutation_p.L10H|HFE_uc003ngf.1_Missense_Mutation_p.L10H	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	10					antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGGCGCTTCTCCTCCTGATG	0.677000									Hemochromatosis					96			34		0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637362	60637362	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:60637362G>A	uc001nqd.3	+	2	691	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	224					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTGAACAAACGAGATTACATA	0.562000														36			17		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133751795	133751795	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:133751795C>T	uc002ttp.3	-	6	733	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	NCKAP5_uc002ttq.3_Missense_Mutation_p.R120Q|NCKAP5_uc002tts.1_Missense_Mutation_p.R95Q	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	120							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAATAGATTTCGTACTGTTTC	0.348000														5			6		0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50329960	50329960	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:50329960G>A	uc003czb.3	-	2	298	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	IFRD2_uc011bdp.2_5'UTR	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	105							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCGCGCAGGCGACGGCGGCTA	0.637000														17			13		0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146726560	146726560	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:146726560A>T	uc001epm.4	+	2	339	c.276A>T	c.(274-276)ttA>ttT	p.L92F	CHD1L_uc001epn.4_5'UTR|CHD1L_uc010ozo.2_Intron|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.L92F|CHD1L_uc010ozp.2_Intron|CHD1L_uc001epo.4_Intron	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	92	Helicase ATP-binding.				DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CAGGAAGATTAAATGATGAAG	0.378000														32			24		0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914801	94914801	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:94914801C>T	uc001ydd.1	-	1	371	c.311G>A	c.(310-312)gGa>gAa	p.G104E		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	104					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAGGTTGAATCCCAGGCCCTC	0.587000														36			40		0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723923	38723923	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:38723923C>T	uc001wum.1	-	0	1652	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	435						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCATAGACTCCTTCCTTGGCT	0.557000														33			17		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995988	57995988	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:57995988C>T	uc010rkd.2	-	0	403	c.360G>A	c.(358-360)gcG>gcA	p.A120A		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGGCCATGATCGCCAAGAGGA	0.592000														24			21		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141596	133141596	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:133141596G>A	uc003ytj.3	-	14	2757	c.2532C>T	c.(2530-2532)ccC>ccT	p.P844P	KCNQ3_uc003yti.3_Silent_p.P724P|KCNQ3_uc010mdt.3_Silent_p.P832P	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	844					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGGGCGTGAAGGGGTCCGTGT	0.572000														50			12		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183446572	183446572	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:183446572C>T	uc003fly.2	+	6	940	c.745C>T	c.(745-747)Cat>Tat	p.H249Y		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	249	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAGCATTAATCATTTTGTCAA	0.413000														42			20		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	40999860	40999860	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:40999860G>A	uc003jmj.4	-	39	4994	c.4504C>T	c.(4504-4506)Ctg>Ttg	p.L1502L	HEATR7B2_uc003jmi.4_Silent_p.L1057L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1502							binding	p.L1502M(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGGATCCACAGAATTTCCTGG	0.473000														76			19		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8976425	8976425	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:8976425G>A	uc001quz.4	+	2	454	c.356G>A	c.(355-357)gGg>gAg	p.G119E		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAGAGGCAGGGGAACGGCACC	0.507000														92			28		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189923601	189923601	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:189923601C>T	uc002uqk.3	-	31	2379	c.2104G>A	c.(2104-2106)Gga>Aga	p.G702R	COL5A2_uc010frx.3_Missense_Mutation_p.G278R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	702					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAACTGCTCCGGGATCTCCA	0.358000														13			10		0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710880	14710880	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:14710880C>T	uc010dzn.2	+	11	857	c.780C>T	c.(778-780)ccC>ccT	p.P260P	CLEC17A_uc010dzo.2_Silent_p.P260P|CLEC17A_uc002mzh.2_Silent_p.P243P|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Intron	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	260						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GCTGGCTGCCCTTTGAGGGCA	0.527000														22			22		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184107206	184107206	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:184107206C>A	uc003fov.3	+	22	3110	c.2864C>A	c.(2863-2865)tCt>tAt	p.S955Y	CHRD_uc003fow.3_Missense_Mutation_p.S585Y|CHRD_uc003fox.3_Missense_Mutation_p.S954Y|CHRD_uc003foy.3_Missense_Mutation_p.S585Y|CHRD_uc010hyc.3_Missense_Mutation_p.S545Y|CHRD_uc011brr.2_Missense_Mutation_p.S497Y	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	955					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAAGGCTCTTAGGGAGCA	0.597000														24			14		0.00400662	0.0040167	1	1	0
MUC4	4585	broad.mit.edu	37	3	195477772	195477772	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:195477772C>T	uc021xjp.1	-	22	16015	c.15859G>A	c.(15859-15861)Gat>Aat	p.D5287N	MUC4_uc010hzq.3_Missense_Mutation_p.D144N|MUC4_uc003fuz.3_Missense_Mutation_p.D885N|MUC4_uc003fva.3_Missense_Mutation_p.D767N|MUC4_uc003fvb.3_Missense_Mutation_p.D803N|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.D803N|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.D796N|MUC4_uc021xjn.1_Missense_Mutation_p.D976N|MUC4_uc021xjo.1_Missense_Mutation_p.D767N|MUC4_uc021xjg.1_Missense_Mutation_p.D767N|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.D851N|MUC4_uc021xjj.1_Missense_Mutation_p.D851N|MUC4_uc021xjk.1_Missense_Mutation_p.D1028N|MUC4_uc021xjl.1_Missense_Mutation_p.D767N|MUC4_uc003fvo.3_Missense_Mutation_p.D1051N|MUC4_uc003fvp.3_Missense_Mutation_p.D1000N	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	2044					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGTCACATCGCGCACGTCT	0.622000														26			21		0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43920619	43920619	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:43920619C>T	uc002owk.3	+	6	918	c.357C>T	c.(355-357)atC>atT	p.I119I	TEX101_uc010xwo.2_Silent_p.I101I	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	101						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CCGGCCTGATCGTGACCTCCT	0.527000														95			80		0	0	1	0	0
LCE5A	254910	broad.mit.edu	37	1	152484100	152484100	+	Silent	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152484100C>A	uc021oyx.1	+	0	90	c.90C>A	c.(88-90)ccC>ccA	p.P30P	LCE5A_uc001ezy.3_Silent_p.P30P|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	30	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			agtgtcctcccaagtgtcccc	0.592000														28			17		3.45872e-05	3.47616e-05	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:63453898C>T	uc001xfx.3	-	4	492	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_uc001xfy.3_Silent_p.T147T|KCNH5_uc001xfz.1_Silent_p.T89T|KCNH5_uc001xga.3_Silent_p.T89T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T147M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388000														68			14		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88678428	88678428	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:88678428G>T	uc002bme.2	-	9	1414	c.1108C>A	c.(1108-1110)Cac>Aac	p.H370N	NTRK3_uc002bmh.2_Missense_Mutation_p.H370N|NTRK3_uc002bmf.2_Missense_Mutation_p.H370N|NTRK3_uc021sua.1_Missense_Mutation_p.H370N|NTRK3_uc010upl.1_Missense_Mutation_p.H272N|NTRK3_uc010bnh.1_Missense_Mutation_p.H370N|NTRK3_uc002bmg.3_Missense_Mutation_p.H370N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	370	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGTTGTAGTGGGTGGGCTTG	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				103			44		7.05121e-23	7.16262e-23	1	1	0
FILIP1L	11259	broad.mit.edu	37	3	99569165	99569165	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:99569165C>T	uc003dtm.3	-	4	1818	c.1355G>A	c.(1354-1356)aGg>aAg	p.R452K	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.R452K|FILIP1L_uc010hpf.3_Missense_Mutation_p.R28K|FILIP1L_uc010hpg.3_Missense_Mutation_p.R212K|FILIP1L_uc003dtn.3_Missense_Mutation_p.R212K|FILIP1L_uc021xbr.1_Missense_Mutation_p.R212K|FILIP1L_uc003dtp.1_Missense_Mutation_p.R212K	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	452						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTGGTCATCCTTTCTTTTTC	0.363000														61			29		0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27434297	27434297	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:27434297G>A	uc001bnm.3	-	3	1750	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	SLC9A1_uc010ofk.2_Missense_Mutation_p.S36F|SLC9A1_uc001bnn.2_Missense_Mutation_p.S375F	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	375					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGTGGTGTGGGACTTGTGGGA	0.602000														17			7		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10913150	10913150	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:10913150C>T	uc003mzo.3	+	13	1358	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	SYCP2L_uc011din.1_Silent_p.F195F|SYCP2L_uc010jow.3_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	354						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGATGAATTTCAGCATAACAG	0.343000														32			8		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33955849	33955849	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:33955849C>T	uc001zhi.3	+	35	5600	c.5530C>T	c.(5530-5532)Cgc>Tgc	p.R1844C	RYR3_uc010bar.3_Missense_Mutation_p.R1844C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1844	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAGAAGTTCCGCTACAATGA	0.572000														17			9		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131165	45131165	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:45131165C>T	uc002xsa.3	-	3	1344	c.882G>A	c.(880-882)agG>agA	p.R294R	ZNF334_uc002xsb.3_Silent_p.R233R|ZNF334_uc002xsd.3_Silent_p.R233R|ZNF334_uc002xsc.3_Silent_p.R271R|ZNF334_uc010ghl.3_Silent_p.R270R			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GAAAAGTTTTCCTACAATCAC	0.398000														71			33		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18803289	18803289	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:18803289C>T	uc001ipr.2	+	6	855	c.795C>T	c.(793-795)ttC>ttT	p.F265F	CACNB2_uc001ipt.2_Intron|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Intron|CACNB2_uc010qcl.2_Intron|CACNB2_uc001ipu.3_Silent_p.F237F|CACNB2_uc001ipv.3_Intron|CACNB2_uc009xka.2_Intron|CACNB2_uc001ipw.2_Intron|CACNB2_uc001ipx.2_Silent_p.F210F|CACNB2_uc009xkb.1_Intron|CACNB2_uc010qcm.2_Silent_p.F211F|CACNB2_uc001ipz.2_Intron|CACNB2_uc001ipy.2_Silent_p.F211F|CACNB2_uc010qcn.2_Intron|CACNB2_uc010qco.1_Intron|CACNB2_uc001iqa.2_Silent_p.F217F|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	265					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAATGCCCTTCTTTAAGAAGG	0.453000														35			32		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115226943	115226943	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:115226943G>A	uc001efe.2	-	4	571	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	AMPD1_uc001eff.2_Missense_Mutation_p.R171W	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	142					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CATAGTGCCCGATACAGACCT	0.413000														21			17		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32038093	32038093	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32038093G>A	uc003nzl.2	-	13	5291	c.5089C>T	c.(5089-5091)Cct>Tct	p.P1697S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1779	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGCCCTCAGGAACCGTCCAG	0.662000														134			125		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84520132	84520132	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:84520132G>A	uc004eeq.3	+	5	1673	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	ZNF711_uc004eep.3_Missense_Mutation_p.E263K|ZNF711_uc004eeo.3_Missense_Mutation_p.E263K|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	263					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						AGGTGGAACAGAAATTGTCAC	0.363000														3			13		0	0	1	0	0
C11orf42	160298	broad.mit.edu	37	11	6231685	6231685	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:6231685C>T	uc001mcj.3	+	1	726	c.678C>T	c.(676-678)gtC>gtT	p.V226V		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	226	Pro-rich.							p.V226I(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAACTGGGTCAGACCCAACC	0.587000														89			77		0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10621503	10621503	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:10621503C>T	uc002wnw.2	-	24	3643	c.3127G>A	c.(3127-3129)Gat>Aat	p.D1043N		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	1043					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity	p.R1042C(1)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CTGTTTCCATCACGTTTACTA	0.448000									Alagille Syndrome					57			34		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117665447	117665447	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:117665447C>T	uc001twn.2	-	24	4219	c.3508_splice	c.e24-1	p.G1170_splice	NOS1_uc021ren.1_Splice_Site_p.G800_splice|NOS1_uc021reo.1_Splice_Site_p.G800_splice|NOS1_uc001twm.2_Splice_Site_p.G1136_splice	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1136	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTGCAAACCCTGTGCCAAGG	0.547000														24			19		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	186997827	186997827	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:186997827G>A	uc003iyq.3	+	1	155	c.54G>A	c.(52-54)ggG>ggA	p.G18G		NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	18					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGCCCTTTGGGATGCTGTGTG	0.458000														65			19		0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144380014	144380014	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:144380014C>T	uc003weq.3	-	3	276	c.173G>A	c.(172-174)gGa>gAa	p.G58E	TPK1_uc003weo.3_Missense_Mutation_p.E13K|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Missense_Mutation_p.G58E|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	58					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	p.G58V(2)|p.E57K(1)|p.E57Q(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TTCTCTCTCTCCTTCGGTGAT	0.378000														129			26		0	0	1	0	0
MRPL9	65005	broad.mit.edu	37	1	151733957	151733958	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:151733957_151733958AG>TA	uc001eyv.3	-	4	642_643	c.557_558CT>TA	c.(556-558)cct>cTA	p.P186L	MRPL9_uc009wmz.3_Non-coding_Transcript|OAZ3_uc010pdl.2_5'Flank	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	Homo sapiens mitochondrial ribosomal protein L9 (MRPL9), nuclear gene encoding mitochondrial protein, mRNA.	186					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAACTATTTCAGGGTTCAGCTC	0.465000														49			17		0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59025623	59025623	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:59025623T>C	uc002qtd.3	-	2	1626	c.1334A>G	c.(1333-1335)tAc>tGc	p.Y445C	SLC27A5_uc002qtc.2_5'Flank|ZBTB45_uc002qtf.3_Missense_Mutation_p.Y445C	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TTTGAGCAGGTAGTCGCGTAG	0.642000														11			7		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072057	240072057	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:240072057G>A	uc021plc.1	+	0	1306	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	CHRM3_uc001hyp.3_Missense_Mutation_p.D436N	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	436					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GTCAGCCGTGGACACAGCTAA	0.547000														14			15		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41199882	41199882	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:41199882G>A	uc003jmk.2	-	3	643	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	C6_uc003jml.1_Missense_Mutation_p.R145C	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	145	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R145P(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTCACAGCGAAATTTATTC	0.413000														78			33		0	0	1	0	0
TNMD	64102	broad.mit.edu	37	X	99848968	99848968	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:99848968G>A	uc004efy.4	+	2	483	c.257G>A	c.(256-258)aGa>aAa	p.R86K	TNMD_uc004efz.2_Missense_Mutation_p.R86K	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN	Homo sapiens tenomodulin (TNMD), mRNA.	86						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CCTGTGACCAGAACTGAAATA	0.413000														10			26		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518696	113518696	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:113518696C>T	uc010ljy.1	-	3	2482	c.2451G>A	c.(2449-2451)atG>atA	p.M817I		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	817					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTCCTTCTCCATTTCATCTA	0.378000														58			23		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13862820	13862820	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:13862820C>T	uc003jfd.2	-	28	4675	c.4633G>A	c.(4633-4635)Gag>Aag	p.E1545K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1545	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTTTTGCTCAATGTCTCTC	0.428000									Kartagener syndrome					81			38		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105075050	105075050	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:105075050C>T	uc004emd.3	+	1	364	c.61C>T	c.(61-63)Cca>Tca	p.P21S	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	21							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.D20N(1)|p.D20Y(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTGCAGGATCCAACTGGAAT	0.284000										HNSCC(51;0.14)				15			25		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364296	22364296	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:22364296C>T	uc002nqs.1	-	2	541	c.223G>A	c.(223-225)Gga>Aga	p.G75R		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCATGTCCACATTTGTCA	0.328000														47			14		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	192011404	192011404	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:192011404G>A	uc002usm.2	-	2	523	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	STAT4_uc010zgm.1_Non-coding_Transcript|STAT4_uc010zgn.1_Non-coding_Transcript|STAT4_uc010zgo.1_Non-coding_Transcript|STAT4_uc002usn.2_Missense_Mutation_p.R70C|STAT4_uc002uso.2_Missense_Mutation_p.R70C|STAT4_uc002usp.4_Missense_Mutation_p.R70C|STAT4_uc010zgl.2_Missense_Mutation_p.R70C	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	70					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTGGAAACACGACCTAACTGT	0.338000														20			6		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51086731	51086731	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:51086731G>A	uc001rwv.3	+	14	1811	c.1655_splice	c.e14-1	p.G552_splice	DIP2B_uc009zlt.3_Splice_Site	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	552						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCTATTTTAGGGGAAACAAT	0.348000														35			19		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28648105	28648105	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:28648105C>T	uc002kwl.4	-	15	3036	c.2582G>A	c.(2581-2583)gGa>gAa	p.G861E	DSC2_uc002kwk.4_3'UTR	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	861					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CGATCCTCTTCCTTCATAGTT	0.413000														30			16		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705076	2705076	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:2705076G>A	uc009zdu.1	+	19	3013	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	CACNA1C_uc001qkc.2_Silent_p.T900T|CACNA1C_uc001qjz.2_Silent_p.T900T|CACNA1C_uc001qkd.2_Silent_p.T900T|CACNA1C_uc001qke.2_Silent_p.T900T|CACNA1C_uc001qkf.2_Silent_p.T900T|CACNA1C_uc009zdw.1_Silent_p.T900T|CACNA1C_uc001qkg.2_Silent_p.T900T|CACNA1C_uc001qkh.2_Silent_p.T900T|CACNA1C_uc001qkl.2_Silent_p.T900T|CACNA1C_uc001qkj.2_Silent_p.T900T|CACNA1C_uc001qkk.2_Silent_p.T900T|CACNA1C_uc001qkn.2_Silent_p.T900T|CACNA1C_uc001qkm.2_Silent_p.T900T|CACNA1C_uc001qko.2_Silent_p.T900T|CACNA1C_uc001qkp.2_Silent_p.T900T|CACNA1C_uc001qkq.2_Silent_p.T900T|CACNA1C_uc001qku.2_Silent_p.T900T|CACNA1C_uc001qkr.2_Silent_p.T900T|CACNA1C_uc001qks.2_Silent_p.T900T|CACNA1C_uc001qkt.2_Silent_p.T900T|CACNA1C_uc009zdv.1_Silent_p.T897T|CACNA1C_uc001qkb.2_Silent_p.T900T|CACNA1C_uc001qka.1_Silent_p.T435T|CACNA1C_uc001qki.1_Silent_p.T636T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	900					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)	TCAATGACACGATCTTCACCA	0.562000														63			14		0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150471438	150471438	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:150471438C>T	uc001euq.3	+	11	1474	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Silent_p.S407S|TARS2_uc009wlt.3_Silent_p.S115S|TARS2_uc009wls.3_Silent_p.S359S	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	489					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTGGCTTCTCCTTCCGCCTGG	0.567000														52			72		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542837	55542837	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:55542837A>G	uc003xsd.1	+	3	6543	c.6395A>G	c.(6394-6396)aAt>aGt	p.N2132S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2132					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGGGTGAAAATCTTTTCATT	0.323000														33			13		0	0	1	0	0
GNG2	54331	broad.mit.edu	37	14	52433399	52433399	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:52433399C>T	uc001wzi.3	+	3	767	c.210C>T	c.(208-210)atC>atT	p.I70I	GNG2_uc001wzh.3_Non-coding_Transcript|GNG2_uc010aoc.2_Non-coding_Transcript|GNG2_uc021rte.1_Silent_p.I70I|GNG2_uc001wzj.3_Silent_p.I70I|GNG2_uc001wzk.3_Silent_p.I70I	NM_053064	NP_444292	P59768	GBG2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 2 (GNG2), transcript variant 1, mRNA.	70					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TCTGTGCCATCCTTTAAGTCT	0.512000														48			36		0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52705095	52705095	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:52705095C>T	uc001cto.3	+	3	2178	c.2006C>T	c.(2005-2007)cCa>cTa	p.P669L	ZFYVE9_uc001ctn.3_Missense_Mutation_p.P669L|ZFYVE9_uc001ctp.3_Missense_Mutation_p.P669L	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	669					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCAGATAGCCCAGATAATGAT	0.468000														70			26		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158260952	158260952	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:158260952C>T	uc001fru.3	+	1	382	c.90C>T	c.(88-90)gtC>gtT	p.V30V	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	30					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.V30V(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCTTCCATGTCATCCAGATCT	0.478000														40			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599565	179599565	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179599565C>T	uc021vsy.1	-	47	11579	c.11354G>A	c.(11353-11355)cGa>cAa	p.R3785Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R446Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4712							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R3785Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAATACATTCGGACTGTGTT	0.418000														65			15		0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119014871	119014871	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:119014871G>C	uc001ldd.2	+	6	947	c.784G>C	c.(784-786)Gat>Cat	p.D262H	SLC18A2_uc009xyy.2_Missense_Mutation_p.D59H	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	262					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GGTACTCTTGGATGGAGGTGA	0.612000														23			24		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302779	163302779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:163302779C>T	uc002uch.2	-	6	1532	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	KCNH7_uc002uci.3_Missense_Mutation_p.D428N	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	435					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCTTCTCTGTCATTGAGGAGG	0.413000														45			10		0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46414563	46414563	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:46414563A>T	uc003cpo.4	+	2	292	c.170A>T	c.(169-171)aAc>aTc	p.N57I	CCR5_uc010hjd.3_Missense_Mutation_p.N57I|CCR5_uc021wxb.1_Missense_Mutation_p.N57I	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	57					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ATCCTGATAAACTGCAAAAGG	0.502000														140			64		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853297	2853297	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:2853297C>T	uc002lwo.3	+	3	1372	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	ZNF555_uc002lwn.4_Nonsense_Mutation_p.R411*	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R412*(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCCTTTCGAGGACACAT	0.468000														10			20		0	0	1	0	0
LAX1	54900	broad.mit.edu	37	1	203734720	203734720	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:203734720G>A	uc001haa.3	+	0	437	c.27G>A	c.(25-27)tcG>tcA	p.S9S	LAX1_uc010pql.2_Intron	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	Homo sapiens lymphocyte transmembrane adaptor 1 (LAX1), transcript variant 1, mRNA.	9					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	SH2 domain binding|protein kinase binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAACCCTTTCGACAATCAGAG	0.522000														23			19		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350347	100350347	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:100350347C>T	uc003uwj.3	+	13	2784	c.2619C>T	c.(2617-2619)atC>atT	p.I873I	ZAN_uc003uwk.3_Silent_p.I873I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	873	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACTCACCATCCCCACGGAAA	0.493000														50			16		0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97246510	97246510	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:97246510C>T	uc010kcl.3	-	2	1576	c.1098G>A	c.(1096-1098)ttG>ttA	p.L366L	GPR63_uc003pou.3_Silent_p.L366L|GPR63_uc021zcy.1_Silent_p.L366L	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	366						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TCAGCGGATTCAATGCAGACT	0.458000														19			33		0	0	1	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74700993	74700993	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:74700993G>A	uc001jtf.1	-	2	467	c.400C>T	c.(400-402)Cga>Tga	p.R134*	PLA2G12B_uc009xqt.1_Nonsense_Mutation_p.R44*|PLA2G12B_uc010qjz.1_Nonsense_Mutation_p.R134*	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	134					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					AGACACCATCGGAATTTTGCA	0.507000														61			45		0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47755678	47755678	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:47755678G>A	uc009ylv.3	-	9	1738	c.1585C>T	c.(1585-1587)Cag>Tag	p.Q529*	FNBP4_uc001ngj.3_Nonsense_Mutation_p.Q436*|FNBP4_uc001ngl.2_Intron	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	529										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCTCCAATCTGAAACTACAAT	0.318000														18			13		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960599	143960599	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:143960599C>T	uc010mey.3	-	2	386	c.379G>A	c.(379-381)Gac>Aac	p.D127N	CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.D82N|CYP11B1_uc003yxj.3_Missense_Mutation_p.D82N	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	82					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCTCCCAAGTCGTACCTGTGG	0.637000									Familial Hyperaldosteronism type I					56			42		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52945033	52945033	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:52945033C>T	uc003gzl.3	+	7	1431	c.1153C>T	c.(1153-1155)Cta>Tta	p.L385L	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Silent_p.L353L|SPATA18_uc003gzk.1_Silent_p.L385L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	385					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCATCTTGATCTATATGATTC	0.378000														66			14		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196883786	196883786	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:196883786T>A	uc001gtp.3	+	7	1479	c.1342T>A	c.(1342-1344)Ttc>Atc	p.F448I	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.F447I|CFH_uc001gto.3_Missense_Mutation_p.F201I	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	789	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTGGTCCCATTTCCCAACATG	0.343000														24			11		0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25620957	25620957	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:25620957G>A	uc003abp.1	+	2	175	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	43	Beta/gamma crystallin 'Greek key' 1.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CAACCTGAAGGAAACTGGCGT	0.552000														16			31		0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15605946	15605946	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:15605946C>T	uc003wwt.3	+	8	1344	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	TUSC3_uc003wwu.3_Missense_Mutation_p.R334C|TUSC3_uc022asi.1_Intron	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	334					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R334H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTCAATATTTCGTTCCAAGTA	0.318000														109			55		0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134158130	134158130	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:134158130C>T	uc010quw.1	+	4	724	c.529C>T	c.(529-531)Ctc>Ttc	p.L177F	LRRC27_uc001llf.2_Missense_Mutation_p.L177F|LRRC27_uc010quv.1_Missense_Mutation_p.L177F|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.L177F|LRRC27_uc001llj.2_Missense_Mutation_p.L115F|LRRC27_uc001llk.4_Missense_Mutation_p.L50F	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	177										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGAACACTCTCTCCCCAGAAA	0.478000														40			36		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3639013	3639013	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:3639013C>T	uc002lyj.2	-	16	1877	c.1788_splice	c.e16-1	p.G596_splice	PIP5K1C_uc010xhq.2_Splice_Site_p.G596_splice|PIP5K1C_uc010xhr.2_Splice_Site_p.G596_splice	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	596					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GAAGCCTCCACCCTGGGGACA	0.667000														25			39		0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043462	71043462	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:71043462G>A	uc002shf.3	-	3	1128	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	CLEC4F_uc010yqv.1_Missense_Mutation_p.R351C	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	351			R -> H (in dbSNP:rs722896).		endocytosis	integral to membrane	receptor activity|sugar binding	p.G350D(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGTCCAGACGGCCATTTGCT	0.408000														55			27		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147485	26147485	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:26147485G>A	uc002dof.3	+	1	1679	c.1287G>A	c.(1285-1287)agG>agA	p.R429R		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	429					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		ACAGACTGAGGAAATTCTACA	0.483000														8			5		0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87436815	87436815	+	Missense_Mutation	SNP	C	T	T	rs150419056		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:87436815C>T	uc003ujb.3	+	9	1546	c.1135C>T	c.(1135-1137)Cac>Tac	p.H379Y	RUNDC3B_uc011khd.1_Missense_Mutation_p.H362Y|RUNDC3B_uc011khe.2_Missense_Mutation_p.H362Y|RUNDC3B_uc003ujc.3_Intron|RUNDC3B_uc003ujd.3_Intron	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	379										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TTACCGAAAACACAATAAACA	0.393000														23			6		0	0	1	0	0
MIR205HG	642587	broad.mit.edu	37	1	209605553	209605553	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:209605553C>T	uc009xcn.3	+	3	551	c.168C>T	c.(166-168)ttC>ttT	p.F56F	MIR205HG_uc010psk.2_Non-coding_Transcript	NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		AACCAGATTTCAGTGGAGTGA	0.572000														32			15		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327442	52327442	+	Silent	SNP	G	A	A	rs143644530		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:52327442G>A	uc002pxt.1	+	1	625	c.441G>A	c.(439-441)acG>acA	p.T147T	FPR3_uc021uyq.1_Silent_p.T147T	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	147					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GGGTGATGACGGGACTCTGGA	0.473000														36			27		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22616438	22616438	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22616438G>A	uc010ajk.2	+	1	265	c.179G>A	c.(178-180)gGt>gAt	p.G60D	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_5'UTR|TCRA_uc021rpt.1_5'UTR					SubName: Full=TRA@ protein;																		CCTGGGGAAGGTCCTGTCCTC	0.473000														21			6		0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98673359	98673359	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:98673359G>C	uc001vne.3	+	27	3413	c.3233G>C	c.(3232-3234)cGt>cCt	p.R1078P		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	1060					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGTGCCAAACGTCTGGCCAAT	0.418000														109			60		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75694309	75694309	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:75694309G>A	uc002bai.3	-	9	1669	c.1410C>T	c.(1408-1410)gtC>gtT	p.V470V	SIN3A_uc002baj.3_Silent_p.V470V|SIN3A_uc010uml.2_Silent_p.V470V	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	470	Interaction with REST (By similarity).|Interaction with SAP30 (By similarity).|PAH 3.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GAGCCTTTCGGACCTTATGGA	0.483000														31			14		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366836	248366836	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248366836G>A	uc010pzg.2	+	0	467	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACGGATGGAATTATTGAT	0.463000														93			62		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115586161	115586161	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:115586161C>T	uc004eqi.3	+	10	1554	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	475					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTACTGGGTTCATCTGATTGA	0.308000														10			34		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69337254	69337254	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:69337254G>A	uc003hdz.4	+	4	467	c.403G>A	c.(403-405)Gat>Aat	p.D135N		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	135	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TGAAACTGTAGATAAAATTGT	0.363000														142			36		0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117864084	117864084	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:117864084G>A	uc001prv.3	+	3	573	c.496G>A	c.(496-498)Gag>Aag	p.E166K	IL10RA_uc010rxl.2_Missense_Mutation_p.E146K|IL10RA_uc010rxm.2_Missense_Mutation_p.E146K|IL10RA_uc010rxn.2_Missense_Mutation_p.E17K|IL10RA_uc001prw.3_Missense_Mutation_p.E17K	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	166						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TCACTTCCGAGAGTATGAGAT	0.562000														43			15		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88679836	88679836	+	Silent	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:88679836A>T	uc002bme.2	-	7	933	c.627T>A	c.(625-627)ctT>ctA	p.L209L	NTRK3_uc002bmh.2_Silent_p.L209L|NTRK3_uc002bmf.2_Silent_p.L209L|NTRK3_uc021sua.1_Silent_p.L209L|NTRK3_uc010upl.1_Silent_p.L111L|NTRK3_uc010bnh.1_Silent_p.L209L|NTRK3_uc002bmg.3_Silent_p.L209L	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	209	LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L209L(4)|p.L209I(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCTCAGGAAGGTCTGGGA	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				16			7		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634273	70634273	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:70634273C>T	uc001xly.3	-	1	1621	c.867G>A	c.(865-867)ggG>ggA	p.G289G	SLC8A3_uc001xlw.3_Silent_p.G289G|SLC8A3_uc001xlx.3_Silent_p.G289G|SLC8A3_uc001xlz.3_Silent_p.G289G|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	289					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G289R(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCATCATTTTCCCATCCATCT	0.473000														18			22		0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1484878	1484878	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:1484878G>A	uc003skj.4	-	5	975	c.828C>T	c.(826-828)gcC>gcT	p.A276A	MICALL2_uc003ski.4_5'Flank	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	276						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TTGCCTCCTGGGCCTTCTGTG	0.677000														17			3		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64416264	64416264	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:64416264G>A	uc021qkw.1	-	15	3687	c.3225C>T	c.(3223-3225)ctC>ctT	p.L1075L	NRXN2_uc021qkx.1_Silent_p.L1035L|NRXN2_uc001oas.3_Silent_p.L1035L|NRXN2_uc001oaq.3_Silent_p.L742L	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1075	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGAGGTCTGGGAGACGTCCGT	0.632000														51			44		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084930	9084930	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9084930C>T	uc002mkp.3	-	0	7089	c.6885G>A	c.(6883-6885)tgG>tgA	p.W2295*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2295	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D2294Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAACTCATCCAATCCCCAG	0.468000														16			15		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67700147	67700147	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:67700147C>G	uc001stn.2	+	9	3136	c.2699C>G	c.(2698-2700)aCt>aGt	p.T900S	CAND1_uc001sto.2_Missense_Mutation_p.T410S	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	900					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CAAGAAATAACTAGTCAACCC	0.418000														45			15		0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96129881	96129881	+	RNA	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:96129881C>T	uc001yep.1	+	5		c.1419C>T			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Intron|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Non-coding_Transcript|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		cacctgtttTCATGCTATCTC	0.547000			T	TRA@	T-ALL									19			19		0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50436267	50436267	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:50436267C>T	uc010enq.2	+	3	1349	c.767C>T	c.(766-768)tCc>tTc	p.S256F	ATF5_uc002prd.3_Missense_Mutation_p.S256F|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	256					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S256S(1)		NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CGGGCAGAGTCCGTGGAGCGC	0.657000														22			8		0	0	1	0	0
ZNF691	51058	broad.mit.edu	37	1	43317281	43317281	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:43317281C>T	uc021omh.1	+	3	1047	c.745C>T	c.(745-747)Cac>Tac	p.H249Y	ZNF691_uc001cig.3_Missense_Mutation_p.H218Y|ZNF691_uc009vwm.3_Missense_Mutation_p.H238Y|ZNF691_uc001cih.3_Missense_Mutation_p.H245Y|ZNF691_uc021omi.1_Missense_Mutation_p.H218Y	NM_001242739	NP_001229668	Q5VV52	ZN691_HUMAN	Homo sapiens zinc finger protein 691 (ZNF691), transcript variant 1, mRNA.	249						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCACCGCACCCACACAGGTGA	0.587000														31			15		0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101095818	101095818	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:101095818C>T	uc002tan.1	+	5	272	c.265C>T	c.(265-267)Cct>Tct	p.P89S		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	89					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.F88V(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GTTGCAGTTTCCTCCAGTGCA	0.527000														33			31		0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7004911	7004911	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7004911T>G	uc002gep.3	-	8	1186	c.919A>C	c.(919-921)Acc>Ccc	p.T307P	ASGR2_uc002gen.1_Missense_Mutation_p.T288P|ASGR2_uc002geo.2_Missense_Mutation_p.T302P|ASGR2_uc002geq.3_Missense_Mutation_p.T283P|ASGR2_uc002ger.3_Missense_Mutation_p.T307P	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	307					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	ACCTCGCCGGTGGCATTCCGC	0.572000														45			13		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515925	51515925	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:51515925C>T	uc010ric.2	+	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V214F(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTGCTGGTCTCCTATGTGGTC	0.507000														47			26		0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57718006	57718006	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:57718006C>T	uc002emh.3	+	8	1147	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	GPR97_uc010vhv.2_Silent_p.F228F|GPR97_uc010cdd.3_Intron|GPR97_uc010cde.3_Intron	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	348					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCACTACTTCCTGCTCTGTG	0.587000														29			25		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71871135	71871135	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:71871135C>T	uc010fen.3	+	41	4709	c.4568C>T	c.(4567-4569)tCc>tTc	p.S1523F	DYSF_uc010fei.3_Missense_Mutation_p.S1501F|DYSF_uc010feh.3_Missense_Mutation_p.S1491F|DYSF_uc002sig.4_Missense_Mutation_p.S1470F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.S1515F|DYSF_uc010fee.3_Missense_Mutation_p.S1505F|DYSF_uc010fef.3_Missense_Mutation_p.S1522F|DYSF_uc002sie.3_Missense_Mutation_p.S1484F|DYSF_uc010feo.3_Missense_Mutation_p.S1516F|DYSF_uc010fej.3_Missense_Mutation_p.S1492F|DYSF_uc010fel.3_Missense_Mutation_p.S1471F|DYSF_uc010fem.3_Missense_Mutation_p.S1506F|DYSF_uc002sif.3_Missense_Mutation_p.S1485F|DYSF_uc010fek.3_Missense_Mutation_p.S1502F|DYSF_uc010yqy.2_Missense_Mutation_p.S365F|DYSF_uc010yqz.2_Missense_Mutation_p.S245F	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1484						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCTTTGCCTCCATAGGGGAG	0.502000														15			11		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23625090	23625090	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:23625090A>C	uc003swk.2	-	0	1057	c.407T>G	c.(406-408)gTg>gGg	p.V136G						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		TATACTCCACACATCACAAGG	0.507000														22			19		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123199718	123199718	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:123199718G>A	uc004bkf.3	-	24	3991	c.3810C>T	c.(3808-3810)tcC>tcT	p.S1270S	CDK5RAP2_uc010mvi.3_Silent_p.S279S|CDK5RAP2_uc004bke.3_Silent_p.S555S|CDK5RAP2_uc004bkg.3_Silent_p.S1270S|CDK5RAP2_uc011lxw.2_Silent_p.S535S|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Silent_p.S535S|CDK5RAP2_uc011lya.2_Silent_p.S535S|CDK5RAP2_uc004bkh.1_Silent_p.S1040S|CDK5RAP2_uc004bki.3_Silent_p.S1037S	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1270					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGTGTTGACGGGAGATGACAC	0.498000														72			34		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60781027	60781027	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:60781027G>A	uc001nqq.3	+	6	1508	c.1283G>A	c.(1282-1284)gGa>gAa	p.G428E	CD6_uc009yni.3_Missense_Mutation_p.G327E|CD6_uc009ynj.3_Missense_Mutation_p.G305E|CD6_uc001nqp.3_Missense_Mutation_p.G428E|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.G428E|CD6_uc001nqt.3_Missense_Mutation_p.G428E	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	428					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGAATTAAAGGAAAATATGGT	0.532000														113			64		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86114842	86114842	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:86114842C>T	uc003dql.3	+	8	1157	c.1157C>T	c.(1156-1158)tCt>tTt	p.S386F	CADM2_uc003dqj.3_Missense_Mutation_p.S384F|CADM2_uc003dqk.3_Missense_Mutation_p.S353F|CADM2_uc003dqm.2_Missense_Mutation_p.S276F|CADM2_uc021xay.1_Missense_Mutation_p.S236F|CADM2_uc021xaz.1_Missense_Mutation_p.S236F|CADM2_uc021xba.1_Missense_Mutation_p.S276F	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	384					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ACGCTGTGTTCTATCTTTCTG	0.423000														36			14		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117710192	117710192	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:117710192C>T	uc001twn.2	-	9	2548	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	NOS1_uc021ren.1_Missense_Mutation_p.E277K|NOS1_uc021reo.1_Missense_Mutation_p.E277K|NOS1_uc001twm.2_Missense_Mutation_p.E613K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	613					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCTTACCTCCAGGATATTG	0.597000														59			17		0	0	1	0	0
S1PR5	53637	broad.mit.edu	37	19	10625118	10625118	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:10625118G>A	uc021uox.1	-	0	570	c.570C>T	c.(568-570)gcC>gcT	p.A190A	S1PR5_uc002mot.2_Silent_p.A190A|S1PR5_uc002mou.2_Silent_p.A190A	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 5 (S1PR5), transcript variant 1, mRNA.	190						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						CGTAGGCCTTGGCGTAGAGCG	0.672000														7			9		0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	321457	321457	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:321457G>A	uc002cgj.1	-	10	693	c.690C>T	c.(688-690)atC>atT	p.I230I	LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Silent_p.I209I|RGS11_uc010bqs.1_Silent_p.I219I|RGS11_uc002cgk.1_Silent_p.I46I	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	230	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGAAGTACTCGATCTAGGATG	0.622000														32			18		0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58126513	58126513	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:58126513G>A	uc010rke.2	-	0	30	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAAGCAGGATGAATTCACTCA	0.418000														72			52		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36262016	36262016	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:36262016C>T	uc010jwf.2	+	3	554	c.554C>T	c.(553-555)aCc>aTc	p.T185I	PNPLA1_uc010jwe.1_Missense_Mutation_p.T99I|PNPLA1_uc003olw.1_Missense_Mutation_p.T90I	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	185	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCCTTCTGGACCGACGCCATC	0.617000														31			19		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123044230	123044230	+	Missense_Mutation	SNP	G	A	A	rs151195921		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:123044230G>A	uc003egh.2	-	7	2027	c.2027C>T	c.(2026-2028)gCt>gTt	p.A676V	ADCY5_uc021xdd.1_Missense_Mutation_p.A326V|ADCY5_uc003egg.2_Missense_Mutation_p.A309V|ADCY5_uc003egi.1_Missense_Mutation_p.A235V	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	676					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGGGCGCTCAGCCCCCCAGTG	0.587000														95			55		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38354490	38354490	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:38354490G>A	uc003cib.2	+	5	1018	c.945_splice	c.e5-1	p.W315_splice	SLC22A14_uc010hhc.1_Splice_Site_p.W315_splice|SLC22A14_uc011ayo.1_Splice_Site	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	315						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GGCCACGCAGGATTCTCCCGG	0.602000														7			7		0	0	1	0	0
CYB5A	1528	broad.mit.edu	37	18	71920842	71920842	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:71920842G>A	uc002lli.3	-	4	523	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	CYB5A_uc021ull.1_Missense_Mutation_p.R118C|CYB5A_uc002llh.3_3'UTR	NM_148923	NP_683725	P00167	CYB5_HUMAN	Homo sapiens cytochrome b5 type A (microsomal) (CYB5A), transcript variant 1, mRNA.	128					electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	ATGTATAGGCGATACATCAAG	0.507000														29			19		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977397	46977397	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:46977397C>T	uc003oyt.3	-	10	1973	c.1774G>A	c.(1774-1776)Gga>Aga	p.G592R	GPR110_uc011dwl.2_Missense_Mutation_p.G280R	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	592					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATACCCAGTCCCACATAGGTG	0.443000														59			17		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967314	52967314	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:52967314C>T	uc001sap.1	-	0	296	c.248G>A	c.(247-249)gGg>gAg	p.G83E		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	83	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGCCCGGCCCCCTCCATACCC	0.612000														24			17		0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105270	60105270	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:60105270C>T	uc001npd.3	+	1	218	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	68						integral to membrane	receptor activity	p.G67V(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TGGTGGGTTTCATTCTCCTGT	0.483000														89			42		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114666	40114666	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:40114666G>A	uc001rmc.3	+	12	1739	c.1572G>A	c.(1570-1572)atG>atA	p.M524I	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	524										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGGAAAAAATGAATAATTTTT	0.299000														48			5		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634725	122634725	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:122634725C>T	uc003efz.1	-	12	2005	c.1701G>A	c.(1699-1701)ggG>ggA	p.G567G	SEMA5B_uc011bju.1_Silent_p.G509G|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.G567G|SEMA5B_uc010hro.1_Silent_p.G509G	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	567					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTCCCGGGCCCCCAGGCATG	0.617000														35			15		0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35461197	35461197	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:35461197G>A	uc001mwf.3	-	8	1172	c.1129C>T	c.(1129-1131)Ctt>Ttt	p.L377F	PAMR1_uc001mwg.3_Missense_Mutation_p.L360F|PAMR1_uc010rew.2_Missense_Mutation_p.L249F|PAMR1_uc010rex.2_Missense_Mutation_p.L320F	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	360					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCATCGGAAGAACTCTCCTT	0.453000														117			35		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106714521	106714522	+	RNA	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:106714521_106714522CC>TT	uc021ser.1	-	1006		c.23334_23335GG>AA								Parts of antibodies, mostly variable regions.																		TGAAACCTACCCATTCCAGCCC	0.515000														31			12		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79298659	79298659	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:79298659C>T	uc002beq.3	-	14	2358	c.1983G>A	c.(1981-1983)acG>acA	p.T661T	RASGRF1_uc002bep.3_Silent_p.T648T|RASGRF1_uc010blm.1_Silent_p.T570T|RASGRF1_uc002ber.4_Silent_p.T648T|RASGRF1_uc010unh.1_Silent_p.T56T	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	661	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGCGCAGGTCCGTCAGCCTCT	0.552000														35			29		0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84231902	84231902	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:84231902C>T	uc003hoj.4	-	4	914	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	HPSE_uc003hoi.3_Missense_Mutation_p.R214Q|HPSE_uc011ccq.2_Intron|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Intron|HPSE_uc003hok.4_Missense_Mutation_p.R272Q|HPSE_uc011cct.2_Missense_Mutation_p.R272Q	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	272	Heparin/HS-binding.				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CGTCTTTCTTCGAGGCTGACC	0.408000														124			37		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176833438	176833438	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:176833438C>T	uc001glc.3	-	22	4079	c.3867G>A	c.(3865-3867)ggG>ggA	p.G1289G	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1297					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTTGCTGTCCCCATAGTCGT	0.537000														106			24		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560283	44560283	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:44560283C>T	uc002lcr.1	-	0	1706	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	451					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCACCGTTTTCGGCCCGGCGG	0.602000														51			19		0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104487275	104487275	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:104487275C>T	uc001tkj.4	+	9	1499	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	466					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CATTTTATATCCATCTTTGGC	0.328000														23			19		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102819814	102819814	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:102819814G>A	uc001phl.3	-	6	1020	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	331	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATACGGTTGGGAAGTTCTGGC	0.463000														16			30		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43019204	43019204	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:43019204G>A	uc003otq.3	-	3	1067	c.735C>T	c.(733-735)gtC>gtT	p.V245V	CUL7_uc011dvb.2_Silent_p.V329V|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	245					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	p.?(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCTTCCTGGGACCTGTGGGA	0.557000														52			52		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25367434	25367434	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:25367434G>A	uc001upr.3	+	9	1231	c.1190G>A	c.(1189-1191)gGa>gAa	p.G397E	RNF17_uc010tdd.1_Missense_Mutation_p.G256E|RNF17_uc010tde.2_Missense_Mutation_p.G397E|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.G336E|RNF17_uc001upq.1_Missense_Mutation_p.G397E	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	397					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCTCAGATGGGATCTAGCCCT	0.383000														127			60		0	0	1	0	0
KCNK6	9424	broad.mit.edu	37	19	38817347	38817347	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:38817347C>T	uc002oic.3	+	1	544	c.437C>T	c.(436-438)tCa>tTa	p.S146L	KCNK6_uc002oid.3_Missense_Mutation_p.S12L	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA.	146						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CAGCGCCTGTCACTGCTGCTG	0.687000														57			14		0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70898446	70898446	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:70898446C>T	uc003kbs.4	+	4	635	c.497C>T	c.(496-498)cCc>cTc	p.P166L	MCCC2_uc010iyv.1_Missense_Mutation_p.P166L|MCCC2_uc003kbt.4_Non-coding_Transcript|MCCC2_uc003kbu.1_Missense_Mutation_p.P35L	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	166	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AACAGGCTCCCCTGCATCTAC	0.418000														35			18		0	0	1	0	0
BAG6	7917	broad.mit.edu	37	6	31608042	31608042	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:31608042C>T	uc003nvg.4	-	22	3404	c.3090G>A	c.(3088-3090)cgG>cgA	p.R1030R	BAG6_uc003nvf.4_Silent_p.R1024R|BAG6_uc003nvi.4_Silent_p.R1024R|BAG6_uc003nvh.4_Silent_p.R1024R|BAG6_uc011dnw.2_Silent_p.R1024R|BAG6_uc011dnx.2_Silent_p.R850R	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	1030					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTTTCACCTTCCGCTGGCTCT	0.522000														302			215		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501115	195501115	+	Silent	SNP	C	T	T	rs141952289		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:195501115C>T	uc021xjp.1	-	3	13161	c.13005G>A	c.(13003-13005)gtG>gtA	p.V4335V	MUC4_uc003fuz.3_Nonsense_Mutation_p.W15*|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Silent_p.V76V|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Silent_p.V76V|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Silent_p.V99V|MUC4_uc003fvp.3_Silent_p.V48V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1092					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGTGAAGTCCACGGTCCTCC	0.657000														33			19		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137990568	137990568	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:137990568C>T	uc002tva.1	+	7	1922	c.1922C>T	c.(1921-1923)cCt>cTt	p.P641L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P531L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.P672L(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTTGGGGCCCTTGTTCTGAG	0.522000														34			21		0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69704381	69704381	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:69704381C>T	uc001xky.3	+	8	1628	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	EXD2_uc001xkt.3_Missense_Mutation_p.S336F|EXD2_uc001xkv.3_Missense_Mutation_p.S461F|EXD2_uc001xkw.3_Missense_Mutation_p.S336F|EXD2_uc001xku.3_Missense_Mutation_p.S206F|EXD2_uc001xkx.3_Missense_Mutation_p.S336F|EXD2_uc010aqt.3_Missense_Mutation_p.S461F|EXD2_uc010tte.2_Missense_Mutation_p.S461F	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	336					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CTCTGCACCTCCTGCCATGCC	0.567000														14			14		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740738	62740738	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:62740738C>T	uc001dah.4	-	2	415	c.38G>A	c.(37-39)gGg>gAg	p.G13E	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	13								p.G13V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTCTTCATCCCCCTGAGAGGA	0.438000														85			26		0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3101090	3101090	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:3101090C>T	uc002fvd.1	+	0	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						AAGTTCATCTCCTTTGGGGGA	0.498000														64			46		0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123641384	123641384	+	Silent	SNP	G	A	A	rs145873046		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:123641384G>A	uc001uel.3	-	19	3174	c.3066C>T	c.(3064-3066)ttC>ttT	p.F1022F	MPHOSPH9_uc010tal.2_Silent_p.F476F|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Silent_p.F476F	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	1022					M phase of mitotic cell cycle	Golgi membrane|centriole		p.K1021T(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GCAAAACATGGAATTTCTTTA	0.368000														21			10		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215693	130215693	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:130215693C>T	uc004evz.3	+	1	399	c.54C>T	c.(52-54)atC>atT	p.I18I	ARHGAP36_uc004ewa.3_Intron|ARHGAP36_uc004ewb.3_Intron|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	18					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCCCCAGAATCATGCCCCCTT	0.522000														39			91		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365860	175365860	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:175365860C>T	uc001gkp.1	-	2	1141	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	TNR_uc009wwu.1_Missense_Mutation_p.E354K|TNR_uc010pmz.1_Intron	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	354	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATCACATATTCCGTCACTGCC	0.622000														59			43		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599493	179599493	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179599493G>A	uc021vsy.1	-	47	11651	c.11426C>T	c.(11425-11427)tCa>tTa	p.S3809L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S470L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4736							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)			TGCTTCACATGAGTAACTCCC	0.373000														86			74		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461503	48461503	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:48461503G>A	uc003csw.2	-	10	2462	c.2192C>T	c.(2191-2193)tCc>tTc	p.S731F	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Missense_Mutation_p.S731F|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	731	Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGAGCAGGGAAGGACTAGC	0.677000														31			14		0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170145782	170145782	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:170145782G>A	uc003mas.3	+	2	644	c.115G>A	c.(115-117)Gag>Aag	p.E39K	KCNIP1_uc003map.3_Missense_Mutation_p.E37K|KCNIP1_uc003mat.3_Missense_Mutation_p.E28K|KCNIP1_uc010jjp.3_5'UTR|KCNIP1_uc010jjq.3_Missense_Mutation_p.E28K	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	39	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGAGCTGGAGATGACCAT	0.512000														28			5		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798353	185798353	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:185798353G>A	uc002uph.3	+	2	873	c.279G>A	c.(277-279)agG>agA	p.R93R		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	93						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAACAAAGGGAATTTGCTC	0.353000														19			21		0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56271442	56271442	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:56271442C>T	uc002ivq.3	+	4	702	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	195					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						CAATGGCTTCCTTCTCCCTCT	0.617000														31			17		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63246607	63246607	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:63246607C>T	uc001xfx.3	-	9	1909	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	KCNH5_uc001xfy.3_Intron|KCNH5_uc001xfz.1_Missense_Mutation_p.E562K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	620					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGGTGGTTTCCTTCCAGAAG	0.433000														13			17		0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624572	624572	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:624572C>T	uc002cho.3	+	1	636	c.498C>T	c.(496-498)ttC>ttT	p.F166F	PIGQ_uc010bqw.3_Silent_p.F166F|PIGQ_uc002chm.3_Silent_p.F166F|PIGQ_uc002chn.3_Silent_p.F166F|PIGQ_uc010uui.2_Silent_p.F180F	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	166					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGCCGTCTTCGACACGGTAG	0.687000														11			5		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531474	50531474	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:50531474G>A	uc021pqb.1	+	0	884	c.884G>A	c.(883-885)gGa>gAa	p.G295E	C10orf71_uc021pqa.1_Missense_Mutation_p.G294E|C10orf71_uc021pqc.1_Missense_Mutation_p.G295E	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	295										endometrium(1)	1						GACACAGCTGGAACCGTCCCA	0.542000														21			17		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21847523	21847523	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:21847523C>T	uc003svc.3	+	63	10240	c.10209C>T	c.(10207-10209)tcC>tcT	p.S3403S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3403	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGGGTCAATCCATTAAGTCCT	0.448000									Kartagener syndrome					24			18		0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31651470	31651470	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:31651470G>A	uc002wym.1	+	5	641	c.641G>A	c.(640-642)gGg>gAg	p.G214E		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	214	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GAGCTCCTGGGGGCTGTGCTG	0.587000														66			26		0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2296551	2296551	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:2296551G>A	uc003slw.3	-	9	1285	c.1242C>T	c.(1240-1242)atC>atT	p.I414I		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	Homo sapiens sorting nexin 8 (SNX8), mRNA.	414					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		AGGCGCGGAGGATGTGGGAGG	0.632000														43			5		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480284	73480284	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:73480284C>T	uc003xzb.3	+	1	903	c.315C>T	c.(313-315)acC>acT	p.T105T		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	105					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R104W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCTACCGGACCGGGAAACTCC	0.468000														55			41		0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18841656	18841656	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:18841656G>A	uc002dfm.3	-	51	9191	c.8828C>T	c.(8827-8829)cCg>cTg	p.P2943L	SMG1_uc010bwb.3_Missense_Mutation_p.P2803L|SMG1_uc010bwa.3_Missense_Mutation_p.P1674L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2943					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACCATTTCTCGGTTGGATTAA	0.413000														20			14		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33157238	33157238	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:33157238G>A	uc003ocx.1	-	1	319	c.91C>T	c.(91-93)Cct>Tct	p.P31S	COL11A2_uc003ocy.1_Missense_Mutation_p.P31S|COL11A2_uc003ocz.1_Missense_Mutation_p.P31S|COL11A2_uc003oda.3_Missense_Mutation_p.P31S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	31	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACATCCACAGGGGGTGCACCT	0.587000														24			19		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85399733	85399733	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:85399733G>A	uc002ble.3	+	5	2537	c.2370G>A	c.(2368-2370)atG>atA	p.M790I		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	790					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.M790I(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTGAACCCATGGATATGGAAA	0.517000														59			42		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55684473	55684473	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:55684473G>A	uc003pcq.3	-	1	1375	c.663C>T	c.(661-663)atC>atT	p.I221I	BMP5_uc011dxf.2_Silent_p.I221I	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	221					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTCCTTGATGATTTGATATA	0.328000														39			16		0	0	1	0	0
C9orf174	100499483	broad.mit.edu	37	9	100116933	100116933	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:100116933G>A	uc011lut.2	+	36	4640	c.3634G>A	c.(3634-3636)Gag>Aag	p.E1212K	C9orf174_uc004axe.2_Missense_Mutation_p.E1044K|C9orf174_uc011lus.2_Missense_Mutation_p.E862K|C9orf174_uc004axg.2_Missense_Mutation_p.E1073K|C9orf174_uc004axh.2_Non-coding_Transcript	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	1203						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						TGCCCGGATAGAGTTGGTTGA	0.493000														59			24		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8717764	8717764	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:8717764G>A	uc002wnb.3	+	19	2136	c.2133G>A	c.(2131-2133)aaG>aaA	p.K711K	PLCB1_uc010zrb.1_Silent_p.K610K|PLCB1_uc002wna.3_Silent_p.K711K|PLCB1_uc002wnc.1_Silent_p.K610K|PLCB1_uc002wnd.1_Silent_p.K288K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	711	C2.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAAGGAGGAAGGCATTTAAGA	0.388000														31			28		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10476393	10476393	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:10476393C>A	uc002moc.4	-	6	1189	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C	TYK2_uc010dxe.3_Missense_Mutation_p.G86C|TYK2_uc002mod.2_Missense_Mutation_p.G271C	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	271	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGCTCTGTGCCGAAGCGGGGT	0.677000														28			3		1	1	1	1	0
BARX2	8538	broad.mit.edu	37	11	129306816	129306816	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:129306816G>A	uc001qfc.4	+	1	408	c.358G>A	c.(358-360)Gag>Aag	p.E120K		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	120								p.E120D(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		AGCCAGCAGCGAGTCAGAGAC	0.672000														14			16		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515418	56515418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56515418G>A	uc002qmj.3	+	1	399	c.399G>A	c.(397-399)atG>atA	p.M133I	NLRP5_uc002qmi.3_Missense_Mutation_p.M133I	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	133	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTGAAAACATGAACCTGCGAA	0.507000														54			12		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19713772	19713772	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:19713772G>A	uc002ykw.3	-	12	1553	c.1522C>T	c.(1522-1524)Cca>Tca	p.P508S		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	508					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.P508Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTTGGTTCTGGATAAAGACTC	0.393000														52			33		0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200213697	200213697	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:200213697G>A	uc002uuy.2	-	6	1717	c.900C>T	c.(898-900)ccC>ccT	p.P300P	SATB2_uc010fsq.2_Silent_p.P182P|SATB2_uc002uva.2_Silent_p.P300P|SATB2_uc002uuz.2_Silent_p.P300P|SATB2_uc002uvb.1_Silent_p.P43P	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	300						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GACTAAGCTGGGGAGAAAGAA	0.517000														62			29		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52257892	52257892	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:52257892G>A	uc003ddb.3	-	4	941	c.731C>T	c.(730-732)tCc>tTc	p.S244F	TLR9_uc003dda.2_Missense_Mutation_p.S147F	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	147					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GAGGGACAGGGATATGAGGGA	0.557000														163			58		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11631189	11631189	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:11631189G>A	uc002gne.3	+	27	5832	c.5764G>A	c.(5764-5766)Gat>Aat	p.D1922N	DNAH9_uc010coo.3_Missense_Mutation_p.D1216N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1922	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGCTGCTTTGATGAGTTTAA	0.488000														32			6		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65099753	65099753	+	Silent	SNP	C	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:65099753C>G	uc001dbo.1	+	6	768	c.663C>G	c.(661-663)acC>acG	p.T221T	CACHD1_uc001dbp.1_5'UTR|CACHD1_uc001dbq.1_5'UTR	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	272					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGGCAGATACCGTCCGGACTT	0.398000														45			7		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106227	55106227	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:55106227G>A	uc002qgh.1	+	3	350	c.168G>A	c.(166-168)caG>caA	p.Q56Q	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.Q56Q	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	56	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGAGACCCAGGAGTACCGTC	0.582000														56			24		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68125190	68125190	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:68125190G>A	uc001ont.3	+	2	636	c.561G>A	c.(559-561)aaG>aaA	p.K187K	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	187	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCACCCGGAAGATCATTGTGG	0.592000														26			11		0	0	1	0	0
GALNT4	8693	broad.mit.edu	37	12	89916654	89916654	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:89916654G>A	uc001tbd.3	-	0	1930	c.1673C>T	c.(1672-1674)cCt>cTt	p.P558L	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Missense_Mutation_p.P555L|GALNT4_uc010suo.2_Missense_Mutation_p.P386L	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	558	Ricin B-type lectin.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TTGTACATCAGGTCGGCCCTC	0.408000														85			20		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21159334	21159335	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:21159334_21159335GG>AA	uc002zsz.4	-	10	1374_1375	c.1113_1114CC>TT	c.(1111-1116)agcccc>agTTcc	p.P372S	PI4KA_uc010gsq.2_Missense_Mutation_p.P458S	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	372					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTTTGAGGGGGCTCAGCTCAT	0.559000														33			45		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739000	138739000	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:138739000C>T	uc003esy.1	-	0	769	c.504G>A	c.(502-504)atG>atA	p.M168I		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	168								p.R167Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGGGGAGTCCATCCGGAGCT	0.652000														52			31		0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159571	18159571	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:18159571C>T	uc021qek.1	+	0	822	c.822C>T	c.(820-822)ttC>ttT	p.F274F	MRGPRX3_uc001mnu.3_Silent_p.F274F	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	274						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F274Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTACTTCTTCGTGGGCTCCT	0.512000														73			38		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61874029	61874029	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61874029C>T	uc001jky.3	-	25	3240	c.2902G>A	c.(2902-2904)Gac>Aac	p.D968N	ANK3_uc001jkw.3_Missense_Mutation_p.D102N|ANK3_uc009xpa.3_Missense_Mutation_p.D102N|ANK3_uc001jkx.3_Missense_Mutation_p.D146N|ANK3_uc010qih.2_Missense_Mutation_p.D969N|ANK3_uc001jkz.4_Missense_Mutation_p.D962N|ANK3_uc001jla.1_Missense_Mutation_p.D34N|ANK3_uc001jlb.1_Missense_Mutation_p.D475N	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	968					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTAAGGTGTCTGCAGCCCAG	0.348000														34			9		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216752	3216752	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:3216752G>A	uc022aqr.1	-	20	3616	c.3226C>T	c.(3226-3228)Cgt>Tgt	p.R1076C	CSMD1_uc011kwj.2_Missense_Mutation_p.R469C|CSMD1_uc003wqe.3_Missense_Mutation_p.R233C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1077	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTCTAAACGATATCCCAGG	0.557000														74			47		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461408	11461408	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:11461408C>T	uc001qzf.1	-	2	543	c.509G>A	c.(508-510)gGa>gAa	p.G170E	PRB4_uc001qzt.3_Missense_Mutation_p.G170E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	233	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele S).	GGN -> QGG (in Ref. 5; AA sequence).|Missing (in Ref. 7; CAA30542).		extracellular region		p.E169K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTTGTTTCCTTCCTGTGG	0.587000										HNSCC(22;0.051)				139			119		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54966504	54966504	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:54966504C>T	uc001sgd.2	+	6	1107	c.714C>T	c.(712-714)ttC>ttT	p.F238F	PDE1B_uc010soz.2_Silent_p.F101F|PDE1B_uc010spa.1_Silent_p.F197F|PDE1B_uc001sge.3_Silent_p.F218F|PDE1B_uc001sgf.3_Silent_p.F101F|PDE1B_uc009znq.3_Silent_p.F34F	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	238	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TCCATTGCTTCTTGCTCCGCA	0.517000														133			113		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73053119	73053119	+	RNA	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:73053119G>A	uc004ebm.1	-	2		c.11527C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		ATTAGCTGGAGCTTGGCCAGA	0.423000														14			30		0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128023	56128023	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:56128023C>T	uc010rjh.2	+	0	333	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGCCACCCAACTGGGAGGGTT	0.408000														89			21		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119934865	119934865	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:119934865C>T	uc001ehr.1	+	5	1036	c.904C>T	c.(904-906)Cca>Tca	p.P302S	HAO2_uc001ehq.1_Missense_Mutation_p.P302S	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	302	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TCTTGGGAGACCAATCCTATG	0.493000														42			9		0	0	1	0	0
CLDN6	9074	broad.mit.edu	37	16	3065768	3065768	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:3065768G>A	uc021tbb.1	-	0	255	c.255C>T	c.(253-255)gtC>gtT	p.V85V	CLDN6_uc002csu.4_Silent_p.V85V	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	85					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGAGGGCGATGACACAGAGGG	0.632000														34			16		0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100780299	100780299	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:100780299C>T	uc003uxt.3	+	7	1253	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	SERPINE1_uc011kkj.2_Missense_Mutation_p.R354C|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	369		Reactive bond.			angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGTCTCAGCCCGCATGGCCCC	0.577000														62			20		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141008852	141008852	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:141008852G>A	uc004cog.3	+	39	5698	c.5553G>A	c.(5551-5553)aaG>aaA	p.K1851K	CACNA1B_uc022bqn.1_Silent_p.K1851K|CACNA1B_uc004coi.3_Silent_p.K1065K	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1853					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGTGGGGAAGGTTTATGCAG	0.517000														3			3		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508428	71508428	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:71508428C>T	uc011caw.1	+	8	1566	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	429					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCCTGTTGTTCGCAATGAAAA	0.468000														57			11		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976359	131976359	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:131976359C>T	uc002tsn.2	+	0	436	c.384C>T	c.(382-384)ttC>ttT	p.F128F	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	128							ATP binding										ACAGCGCCTTCATGGAGCCCA	0.597000														85			14		0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31258670	31258670	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:31258670G>A	uc002hhq.3	+	2	582	c.124G>A	c.(124-126)Gat>Aat	p.D42N	TMEM98_uc002hhr.3_Missense_Mutation_p.D42N	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	Homo sapiens transmembrane protein 98 (TMEM98), transcript variant 1, mRNA.	42						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GCAGCGCTATGATTCTAAGTG	0.547000														5			11		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118499023	118499023	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:118499023G>A	uc001ptr.2	+	6	1837	c.1484G>A	c.(1483-1485)tGg>tAg	p.W495*	PHLDB1_uc001pts.3_Nonsense_Mutation_p.W495*|PHLDB1_uc001ptt.3_Nonsense_Mutation_p.W495*|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Nonsense_Mutation_p.W295*|PHLDB1_uc001ptw.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	495										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCCGGCGCTGGGCAGCCCAT	0.682000														7			16		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35700683	35700683	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:35700683G>A	uc003jjo.3	+	15	2338	c.2227G>A	c.(2227-2229)Ggc>Agc	p.G743S	SPEF2_uc003jjq.4_Missense_Mutation_p.G738S|SPEF2_uc003jjp.1_Missense_Mutation_p.G229S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	743					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)			AGCTCTTACAGGCTGCAATAG	0.408000														26			7		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023654	18023654	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:18023654G>T	uc021trm.1	+	0	1759	c.1540G>T	c.(1540-1542)Gag>Tag	p.E514*	MYO15A_uc021trl.1_Nonsense_Mutation_p.E514*	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	514	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGACGAAGAAGAGGACGAGGA	0.672000														26			4		0.00024832	0.000249321	1	1	0
PPRC1	23082	broad.mit.edu	37	10	103908398	103908398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:103908398C>T	uc001kum.3	+	10	4603	c.4564C>T	c.(4564-4566)Cgt>Tgt	p.R1522C	PPRC1_uc001kun.3_Missense_Mutation_p.R1400C|PPRC1_uc010qqj.2_Missense_Mutation_p.R1258C|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1522	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAGCTCTTATCGTTCACATGA	0.502000														96			32		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680647	72680647	+	Silent	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:72680647A>G	uc001sxa.3	+	1	996	c.966A>G	c.(964-966)tcA>tcG	p.S322S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	322					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATCACTTTTCACAGACCCCTC	0.403000														40			48		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56086745	56086745	+	Silent	SNP	C	T	T	rs142409842		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:56086745C>T	uc001shh.3	-	20	2959	c.2739G>A	c.(2737-2739)agG>agA	p.R913R	ITGA7_uc001shg.3_Silent_p.R909R|ITGA7_uc010sps.2_Silent_p.R816R|ITGA7_uc009znw.3_Silent_p.R156R|ITGA7_uc009znx.3_Silent_p.R790R	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	953					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.R909R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCTCCTATCCCTACTGTCCA	0.617000														25			4		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132242500	132242500	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:132242500A>T	uc003eor.3	+	50	6068	c.6003A>T	c.(6001-6003)gaA>gaT	p.E2001D		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	2001							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGCCTAGAGAATTTCTTATTG	0.413000														51			28		0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5012230	5012230	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:5012230G>A	uc002gat.3	-	3	1271	c.616C>T	c.(616-618)Cca>Tca	p.P206S	ZNF232_uc002gar.1_Missense_Mutation_p.P206S|ZNF232_uc010vsv.1_3'UTR	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	Homo sapiens zinc finger protein 232 (ZNF232), mRNA.	179					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						CCACTCTTTGGGAAAGGCTGG	0.532000														94			69		0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895839	24895839	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:24895839A>C	uc001upj.3	+	3	996	c.935A>C	c.(934-936)aAt>aCt	p.N312T	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	312	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GAGAGGTTCAATGGCTTGTTT	0.547000														69			39		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76393554	76393554	+	Missense_Mutation	SNP	G	A	A	rs34219193		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:76393554G>A	uc021rkq.1	+	12	2425	c.2090G>A	c.(2089-2091)cGa>cAa	p.R697Q	LMO7_uc010thv.2_Missense_Mutation_p.R415Q|LMO7_uc001vjt.1_Missense_Mutation_p.R363Q|LMO7_uc001vjv.3_Missense_Mutation_p.R464Q|LMO7_uc010thw.2_Missense_Mutation_p.R314Q|LMO7_uc001vjw.1_Missense_Mutation_p.R370Q	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	749						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.R415Q(1)|p.R749Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGATCGTCGAAAAAGTTAC	0.408000														39			30		0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114140879	114140879	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:114140879C>T	uc004bfe.1	-	36	4469	c.4469G>A	c.(4468-4470)cGg>cAg	p.R1490Q		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTCTGTCGCCCGGAGGCTCAA	0.473000														53			15		0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76668600	76668600	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:76668600G>A	uc002bby.3	-	27	3817	c.3758C>T	c.(3757-3759)tCc>tTc	p.S1253F	SCAPER_uc010bkr.3_Intron|SCAPER_uc002bbx.3_Missense_Mutation_p.S1007F	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	1252						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCCCAGCAGGGAGCTGGCCAT	0.562000														14			12		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50945839	50945839	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:50945839C>T	uc009xog.3	-	18	2698	c.2664G>A	c.(2662-2664)atG>atA	p.M888I	OGDHL_uc001jie.3_Missense_Mutation_p.M861I|OGDHL_uc010qgt.2_Missense_Mutation_p.M804I|OGDHL_uc010qgu.2_Missense_Mutation_p.M652I	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	861					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TACCGGATACCATTTGGTCAA	0.587000														26			19		0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39668371	39668371	+	Silent	SNP	C	T	T	rs146955542	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:39668371C>T	uc002okj.1	+	9	2003	c.1542C>T	c.(1540-1542)ccC>ccT	p.P514P	PAK4_uc002okl.1_Silent_p.P514P|PAK4_uc002okn.1_Silent_p.P514P|PAK4_uc002okm.1_Silent_p.P361P|PAK4_uc002oko.1_Silent_p.P361P|PAK4_uc002okp.1_Silent_p.P424P	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	514	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GAGAGCCCCCCTACTTCAACG	0.602000														17			15		0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32415193	32415193	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:32415193G>A	uc003jhr.1	-	4	745	c.665C>T	c.(664-666)aCc>aTc	p.T222I	ZFR_uc010iun.1_Missense_Mutation_p.T222I	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	222	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.T222S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GAAAGTAGTGGTAGCTGGACT	0.517000														111			57		0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41785031	41785031	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:41785031C>T	uc002oqb.4	+	5	1125	c.836C>T	c.(835-837)cCc>cTc	p.P279L	HNRNPUL1_uc002opz.4_Missense_Mutation_p.P179L|HNRNPUL1_uc002oqa.4_Missense_Mutation_p.P179L|HNRNPUL1_uc010ehm.3_Missense_Mutation_p.P279L|HNRNPUL1_uc002oqc.4_Intron|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Missense_Mutation_p.P179L|HNRNPUL1_uc010ehn.3_Missense_Mutation_p.P179L|HNRNPUL1_uc010xvy.2_Missense_Mutation_p.P179L|HNRNPUL1_uc010ehp.3_Missense_Mutation_p.P135L|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.P179L	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	279	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGCCTGACCCCCACGTGGTC	0.567000														65			39		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197093454	197093454	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:197093454A>T	uc001gtu.3	-	12	3433	c.3176T>A	c.(3175-3177)aTt>aAt	p.I1059N	ASPM_uc001gtv.3_Missense_Mutation_p.I1059N|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.	1059					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						GTTAAGGGAAATATCCACCTA	0.284000														12			12		0	0	1	0	0
SAMD12	401474	broad.mit.edu	37	8	119592994	119592994	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:119592994C>T	uc003yom.2	-	1	281	c.152G>A	c.(151-153)gGa>gAa	p.G51E	SAMD12_uc010mda.1_Missense_Mutation_p.G51E|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	51										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)			CTTGGGAGTTCCTTTCTGGTC	0.428000														50			31		0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019948	20019948	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20019948C>T	uc001vwc.3	-	0	325	c.273G>A	c.(271-273)atG>atA	p.M91I	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	91										endometrium(4)|kidney(1)|lung(4)	9						TGAGTGTCTTCATAGCAGAGT	0.632000														135			48		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6061038	6061038	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:6061038C>T	uc001qnn.1	-	49	8377	c.8127G>A	c.(8125-8127)atG>atA	p.M2709I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2709					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGAATTTTCATAATTTTAC	0.453000														32			5		0	0	1	0	0
ARNTL	406	broad.mit.edu	37	11	13393715	13393715	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:13393715C>T	uc001mkr.3	+	12	1234	c.826C>T	c.(826-828)Cga>Tga	p.R276*	ARNTL_uc001mko.3_Nonsense_Mutation_p.R232*|ARNTL_uc001mkp.3_Nonsense_Mutation_p.R275*|ARNTL_uc001mkq.3_Nonsense_Mutation_p.R275*|ARNTL_uc001mks.3_Nonsense_Mutation_p.R233*|ARNTL_uc001mkt.3_Nonsense_Mutation_p.R276*|ARNTL_uc009ygm.1_Intron|ARNTL_uc001mkv.1_Nonsense_Mutation_p.R233*|ARNTL_uc001mkw.3_Nonsense_Mutation_p.R233*|ARNTL_uc001mkx.3_Nonsense_Mutation_p.R274*	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	276					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TCTAGCAGATCGAAAAAGCTT	0.512000														135			44		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295729	20295729	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20295729G>A	uc010tkv.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTCCCTGGAAATTTTCTC	0.448000														316			86		0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55686338	55686338	+	Silent	SNP	G	A	A	rs141734238		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:55686338G>A	uc002qjm.1	-	5	1798	c.738C>T	c.(736-738)tcC>tcT	p.S246S	SYT5_uc002qjp.2_Silent_p.S242S|SYT5_uc002qjn.1_Silent_p.S246S|SYT5_uc002qjo.1_Silent_p.S245S	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	246					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.S246S(2)|p.S246F(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CATAGCGGAGGGAGAAGCAGA	0.597000														32			20		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17023403	17023403	+	Silent	SNP	G	A	A	rs10907267	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:17023403G>A	uc001azn.1	-	8	1545	c.1431C>T	c.(1429-1431)aaC>aaT	p.N477N						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GGAACATCACGTTGAAAGACT	0.622000														36			5		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14561731	14561731	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:14561731C>T	uc021wtn.1	-	9	1207	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	306					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GAGCAGTGTTCCATGCTGGTG	0.647000														27			15		0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	86004545	86004545	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:86004545G>A	uc004ams.2	-	1	428	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	FRMD3_uc004amr.1_Missense_Mutation_p.R76C|FRMD3_uc022bja.1_Missense_Mutation_p.R32C	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	76	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCCACATAGCGAATGCCAAAG	0.498000														33			27		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457518	110457518	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:110457518T>C	uc003yne.3	+	37	5524	c.5420T>C	c.(5419-5421)gTt>gCt	p.V1807A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1807	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTCTCCCAGTTGGACATCAT	0.453000										HNSCC(38;0.096)				85			51		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160761908	160761908	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:160761908G>A	uc003lys.1	-	7	901	c.683C>T	c.(682-684)tCc>tTc	p.S228F	GABRB2_uc011deh.1_Missense_Mutation_p.S67F|GABRB2_uc003lyr.1_Missense_Mutation_p.S228F|GABRB2_uc003lyt.1_Missense_Mutation_p.S228F|GABRB2_uc021yhg.1_Missense_Mutation_p.S165F	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	228					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTGGGATAGGAACCTAGAAA	0.378000														34			16		0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45010908	45010908	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:45010908C>T	uc004dgg.2	-	4	1366	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	431						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						CAGAACTTATCGTTATATTTG	0.527000														21			43		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40397451	40397451	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:40397451G>A	uc002rrx.3	-	5	2032	c.2008C>T	c.(2008-2010)Ccg>Tcg	p.P670S	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.P665S|SLC8A1_uc002rsb.2_Missense_Mutation_p.P662S|SLC8A1_uc002rrz.3_Missense_Mutation_p.P657S|SLC8A1_uc002rsa.3_Intron|SLC8A1_uc002rsd.4_Intron	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	670					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GAGAGAATCGGATGTTCTCTA	0.418000														29			12		0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688747	3688747	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:3688747C>A	uc001lyf.3	-	3	682	c.610G>T	c.(610-612)Gtg>Ttg	p.V204L	CHRNA10_uc010qxt.2_5'UTR|CHRNA10_uc010qxu.2_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	204					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	ATGCCCAGCACGCGCCACTCC	0.736000														8			7		1.12685e-05	1.13368e-05	1	1	0
ZNF365	22891	broad.mit.edu	37	10	64136348	64136348	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:64136348G>T	uc001jmc.2	+	1	711	c.396G>T	c.(394-396)atG>atT	p.M132I	ZNF365_uc001jly.4_Missense_Mutation_p.M147I|ZNF365_uc001jmb.4_Missense_Mutation_p.M132I|ZNF365_uc001jlz.4_Missense_Mutation_p.M132I|ZNF365_uc001jma.4_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	191										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACACTGCCATGGACCTCCATG	0.517000														47			12		5.50884e-06	5.54501e-06	1	1	0
TBC1D8	11138	broad.mit.edu	37	2	101670715	101670715	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:101670715G>A	uc010fiv.3	-	3	572	c.441C>T	c.(439-441)ttC>ttT	p.F147F	TBC1D8_uc010yvw.2_Silent_p.F162F|TBC1D8_uc002tau.4_5'UTR	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	147	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						ACCTGGCCTCGAACTTCACCA	0.612000														6			4		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45007332	45007332	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:45007332C>T	uc003tmh.2	-	13	1798	c.1654G>A	c.(1654-1656)Gac>Aac	p.D552N	MYO1G_uc003tmg.2_Missense_Mutation_p.D314N|MYO1G_uc010kym.2_Missense_Mutation_p.D437N|MYO1G_uc003tmi.1_Missense_Mutation_p.D464N	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	552	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGAGTGGGGTCCGTGCTGCAG	0.632000														19			23		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3889600	3889600	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:3889600C>T	uc022aqr.1	-	3	827	c.437G>A	c.(436-438)gGa>gAa	p.G146E		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	146	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCAGGATTTCCACAAGTGTG	0.413000														43			23		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14799168	14799168	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:14799168C>T	uc003byy.3	+	12	2683	c.2231C>T	c.(2230-2232)tCc>tTc	p.S744F	C3orf20_uc003byz.3_Missense_Mutation_p.S622F|C3orf20_uc003bza.3_Missense_Mutation_p.S622F|C3orf20_uc003bzb.1_Missense_Mutation_p.S245F|C3orf20_uc011avj.2_Missense_Mutation_p.S71F	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	744						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGCCGTGGCTCCCCCTGCATC	0.632000														18			7		0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221875829	221875829	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:221875829G>A	uc001hmy.2	-	3	1611	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	DUSP10_uc001hmx.2_Silent_p.F116F|DUSP10_uc001hmz.2_Silent_p.F116F	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	458					JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GGTCTTCCTCGAACTCTAGCA	0.473000														111			34		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839674	62839674	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:62839674G>A	uc002yii.3	+	6	1489	c.1125G>A	c.(1123-1125)cgG>cgA	p.R375R	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_Silent_p.R7R	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	375					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGATGACCCGGGGAAACCTGG	0.632000														45			11		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129107204	129107204	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:129107204C>T	uc011koy.2	+	16	1830	c.1790C>T	c.(1789-1791)tCg>tTg	p.S597L	FAM40B_uc003vow.3_Missense_Mutation_p.S597L|FAM40B_uc011koz.2_Missense_Mutation_p.S89L	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	597										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAATATGTATCGCAACATTTG	0.353000														31			9		0	0	1	0	0
GGA2	23062	broad.mit.edu	37	16	23499999	23499999	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:23499999C>T	uc002dlq.3	-	5	590	c.507G>A	c.(505-507)gtG>gtA	p.V169V	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	169					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AGATTTTATCCACTGGTAGTT	0.408000														103			25		0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75622642	75622642	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:75622642C>T	uc001dgo.3	+	8	1539	c.875C>T	c.(874-876)aCc>aTc	p.T292I	LHX8_uc001dgq.3_Missense_Mutation_p.T231I	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	292						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TCATCCTCCACCCCAGTCACA	0.507000														137			49		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751592	19751592	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:19751592G>A	uc009zzj.3	-	3	636	c.531C>T	c.(529-531)gtC>gtT	p.V177V		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	177					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CGGCCGTGGAGACCTGGGGGG	0.562000														123			55		0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43944827	43944827	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:43944827G>A	uc002xns.3	+	10	1093	c.1021_splice	c.e10-1	p.A341_splice	RBPJL_uc002xnt.3_Splice_Site_p.A341_splice	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	341					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTCCTCCCAGGCCTCTCCCTG	0.617000														68			16		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412009	19412009	+	RNA	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:19412009G>A	uc010tcj.1	-	0		c.34101C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CTATACAGACGACATTAGCCT	0.398000														29			22		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29617457	29617457	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:29617457C>T	uc001rix.1	-	17	2108	c.2108G>A	c.(2107-2109)tGg>tAg	p.W703*		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	703	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GATGCTTCCCCATCCGGTCAC	0.453000														14			23		0	0	1	0	0
COPS3	8533	broad.mit.edu	37	17	17165341	17165341	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:17165341A>T	uc002grd.3	-	6	818	c.701T>A	c.(700-702)tTa>tAa	p.L234*	COPS3_uc010vwv.2_Nonsense_Mutation_p.L214*|COPS3_uc010vww.2_Nonsense_Mutation_p.L104*	NM_003653	NP_001186054	Q9UNS2	CSN3_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) (COPS3), transcript variant 1, mRNA.	234	PCI.				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TTTGCCAAGTAATATCAAAGA	0.338000														26			8		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203696697	203696697	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:203696697C>T	uc001gzw.3	+	19	4204	c.3307C>T	c.(3307-3309)Cag>Tag	p.Q1103*	ATP2B4_uc001gzv.3_Nonsense_Mutation_p.Q1103*|ATP2B4_uc009xaq.3_Nonsense_Mutation_p.Q1103*|ATP2B4_uc001gzx.3_Nonsense_Mutation_p.Q134*|ATP2B4_uc009xar.3_Nonsense_Mutation_p.Q98*|ATP2B4_uc010pqj.1_Non-coding_Transcript|U42379_uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	1103	Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TATCCAGACTCAGGTACTCTG	0.572000														53			25		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35551587	35551587	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:35551587C>T	uc002nxq.2	+	9	922	c.677C>T	c.(676-678)tCt>tTt	p.S226F	HPN_uc002nxr.2_Missense_Mutation_p.S226F|HPN_uc010xsh.1_Missense_Mutation_p.S195F|HPN_uc002nxt.1_Missense_Mutation_p.S110F|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	226	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCCCAGGCCTCTCCCCACGGT	0.657000														59			21		0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131565063	131565063	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:131565063C>T	uc001lkh.2	+	4	545	c.519C>T	c.(517-519)ctC>ctT	p.L173L		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	173										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		TCCCCATCCTCATCCCGTGCC	0.627000								Direct reversal of damage						16			11		0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556432	29556432	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:29556432G>A	uc003nmr.1	+	0	750	c.711G>A	c.(709-711)ggG>ggA	p.G237G	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	237					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G237V(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AAGCTTTTGGGACCTGCTCCT	0.532000														45			46		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234112876	234112876	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:234112876C>T	uc010zmo.2	+	24	3146	c.2993C>T	c.(2992-2994)tCc>tTc	p.S998F	INPP5D_uc010zmp.2_Missense_Mutation_p.S997F	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1027	Pro-rich.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCCTGAGTTCCTTCCCTAAG	0.632000														17			5		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745484	135745484	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:135745484C>T	uc002tue.1	-	6	989	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E207K|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.E48K|YSK4_uc002tui.4_Missense_Mutation_p.E337K	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	320							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGAGTGATTTCAATTTTGTTA	0.398000														45			7		0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44941529	44941529	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:44941529G>A	uc001myg.3	+	4	604	c.594G>A	c.(592-594)agG>agA	p.R198R	TSPAN18_uc001mye.4_Silent_p.R198R|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	198						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TCCTGGGAAGGAGCCTATTCC	0.632000														66			38		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581377	7581377	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:7581377G>A	uc003mxp.1	+	22	5233	c.4954G>A	c.(4954-4956)Gaa>Aaa	p.E1652K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1652	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGGACCCAGGAAGAGCTGAG	0.557000														94			52		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70070294	70070294	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:70070294G>A	uc003heh.3	-	4	1173	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	388					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CCACCATAGGGATCCCATGGT	0.423000														140			28		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540264	187540264	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:187540264G>A	uc003izf.3	-	9	7664	c.7476C>T	c.(7474-7476)ttC>ttT	p.F2492F		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2492	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTTCTGAAGGAAAGCAGGAC	0.438000										HNSCC(5;0.00058)				126			107		0	0	1	0	0
LOC440905	440905	broad.mit.edu	37	2	130785953	130785953	+	RNA	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:130785953C>T	uc002tpy.1	-	0		c.3539G>A			LOC440905_uc002tpz.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		TGATGGCATTCCAGTACTGGG	0.488000														5			3		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10713766	10713766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:10713766G>A	uc001aro.3	-	10	2668	c.2348C>T	c.(2347-2349)tCa>tTa	p.S783L	CASZ1_uc001arp.1_Missense_Mutation_p.S783L|CASZ1_uc009vmx.2_Missense_Mutation_p.S807L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGGGGGATTGAGCCAGGCAG	0.711000														32			33		0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898403	6898403	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:6898403G>A	uc010rat.2	+	0	548	c.525G>A	c.(523-525)gtG>gtA	p.V175V		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAACAGGGTGAACCACTTCT	0.522000														103			37		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729028	196729028	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:196729028C>T	uc002utj.4	-	40	7452	c.7351G>A	c.(7351-7353)Gat>Aat	p.D2451N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2451	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGGCTGCCATCTGTTTGCTTG	0.463000														50			36		0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3346738	3346738	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:3346738C>T	uc003zhr.3	-	3	456	c.144G>A	c.(142-144)caG>caA	p.Q48Q	RFX3_uc010mhd.3_Silent_p.Q48Q|RFX3_uc003zhs.1_Silent_p.Q48Q|RFX3_uc003zht.1_Silent_p.Q48Q|RFX3_uc010mhe.1_Silent_p.Q48Q	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	48					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CATGTTGTACCTGCTGCACAG	0.408000														17			29		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311757	48311757	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:48311757C>T	uc003toq.2	+	16	2518	c.2494C>T	c.(2494-2496)Ccc>Tcc	p.P832S	ABCA13_uc010kyr.2_Missense_Mutation_p.P335S|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	832					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAAATTAATCCCAAATTACT	0.313000														16			10		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583247	119583247	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:119583247C>T	uc001txa.2	+	8	1221	c.833C>T	c.(832-834)tCg>tTg	p.S278L		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	278	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTCACCACCTCGCGAGGACGT	0.607000														5			8		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261902	158261902	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:158261902C>T	uc001fru.3	+	2	649	c.357C>T	c.(355-357)ggC>ggT	p.G119G	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	119					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TGAAAGCGGGCTGTGAGCTGC	0.433000														90			25		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578678	24578678	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:24578678C>T	uc002dmh.3	+	14	2844	c.1804C>T	c.(1804-1806)Cca>Tca	p.P602S	RBBP6_uc010vcb.1_Missense_Mutation_p.P469S|RBBP6_uc002dmi.3_Missense_Mutation_p.P602S|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P469S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	602					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P602S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGTCCCTCCTCCAGGGTTTCC	0.542000														140			118		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102495968	102495968	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:102495968C>T	uc001yks.2	+	48	9725	c.9561C>T	c.(9559-9561)ttC>ttT	p.F3187F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3187					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCAACCTGTTCCACGAGAAGC	0.562000														42			9		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167284379	167284379	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:167284379C>T	uc002udu.2	-	16	2902	c.2772G>A	c.(2770-2772)agG>agA	p.R924R	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	924					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGCAGGTTTTCCTGATGTTCT	0.448000														20			10		0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37186985	37186985	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:37186985C>T	uc002xiw.3	+	22	3677	c.3420C>T	c.(3418-3420)tcC>tcT	p.S1140S	RALGAPB_uc002xix.3_Silent_p.S1136S|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Silent_p.S918S	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1140					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CACTTGATTCCACGATACCTG	0.383000														105			45		0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62790107	62790107	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:62790107C>T	uc001src.2	+	19	2678	c.2603C>T	c.(2602-2604)cCa>cTa	p.P868L	USP15_uc001srb.2_Missense_Mutation_p.P839L	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	868					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTAATTAATCCAAATGCAGGT	0.383000														37			6		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9785081	9785081	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:9785081C>T	uc003gmb.4	+	0	1824	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	476					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGAATGGATTCCATTAAACTG	0.498000														15			13		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5489324	5489325	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:5489324_5489325CC>TT	uc003jdm.4	+	18	6904_6905	c.6682_6683CC>TT	c.(6682-6684)cca>TTa	p.P2228L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	2228										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCCCAGCAATCCAGCAGAAATT	0.470000														25			12		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115338984	115338984	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:115338984G>A	uc003kro.3	+	11	2108	c.1944G>A	c.(1942-1944)gtG>gtA	p.V648V	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	648					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ATGACTGGGTGATTTTGAATT	0.294000														37			24		0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97063357	97063357	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:97063357G>A	uc022bki.1	+	3	1575	c.1520G>A	c.(1519-1521)aGg>aAg	p.R507K	ZNF169_uc004aum.1_Missense_Mutation_p.R506K	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	506						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CGACACCAGAGGACACACTCA	0.542000														37			9		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7645562	7645562	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:7645562C>T	uc002cys.2	+	7	1468	c.480C>T	c.(478-480)ttC>ttT	p.F160F	RBFOX1_uc010buf.1_Silent_p.F160F|RBFOX1_uc002cyr.1_Silent_p.F159F|RBFOX1_uc002cyt.2_Silent_p.F160F|RBFOX1_uc010uxz.1_Silent_p.F203F|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Silent_p.F160F|RBFOX1_uc010uyb.1_Silent_p.F160F|RBFOX1_uc002cyw.2_Silent_p.F180F|RBFOX1_uc002cyy.2_Silent_p.F180F|RBFOX1_uc002cyx.2_Silent_p.F180F|RBFOX1_uc010uyc.1_Silent_p.F180F	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	160	RRM.	Interaction with RNA.			RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GATTTGGTTTCGTAACTTTCG	0.443000														78			18		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059544	11059544	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:11059544C>T	uc010hdq.3	+	3	665	c.254C>T	c.(253-255)cCc>cTc	p.P85L		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	85					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P85S(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTCCTGATCCCCTATTTCCTG	0.602000														83			39		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113700008	113700008	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:113700008G>A	uc001poh.3	-	9	1003	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	USP28_uc001pog.3_Missense_Mutation_p.R32C|USP28_uc010rwy.2_Missense_Mutation_p.R199C|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.R324C	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	324					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R324H(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCTAAGTTGCGATAACCGTTT	0.463000														17			31		0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59857197	59857198	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:59857197_59857198CC>TT	uc001nop.3	+	1	191_192	c.89_90CC>TT	c.(88-90)ccc>cTT	p.P30L	MS4A2_uc009ymu.3_Missense_Mutation_p.P30L|MS4A2_uc021qka.1_Missense_Mutation_p.P30L	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	30					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GAAATATCTCCCCAGGAAGTAT	0.450000														52			28		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41572350	41572350	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:41572350C>T	uc003azl.4	+	29	5274	c.4879C>T	c.(4879-4881)Cgg>Tgg	p.R1627W		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1627	Binding region for E1A adenovirus.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding	p.R1627W(6)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GATGGATGGTCGGGATGCGTT	0.577000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					34			43		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123452976	123452976	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:123452976C>T	uc003ego.3	-	9	1149	c.867G>A	c.(865-867)gaG>gaA	p.E289E	MYLK_uc011bjw.2_Silent_p.E289E|MYLK_uc003egp.3_Silent_p.E289E|MYLK_uc003egq.3_Silent_p.E289E|MYLK_uc003egr.3_Silent_p.E289E|MYLK_uc003egs.3_Silent_p.E113E	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	289					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGGCTGCAGCCTCCAGACTGT	0.552000														39			31		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914776	39914776	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:39914776C>T	uc010xuz.2	+	18	3328	c.3003C>T	c.(3001-3003)tcC>tcT	p.S1001S	PLEKHG2_uc010xuy.2_Silent_p.S942S|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Silent_p.S779S	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1001					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTCCATCCACCGCCTTTT	0.502000														81			54		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124744069	124744069	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:124744069C>T	uc001qbc.3	+	11	2057	c.1888C>T	c.(1888-1890)Cga>Tga	p.R630*	ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	630	Fibronectin type-III 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GTTTCTGGTTCGAGCAGTGGG	0.592000														25			36		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965321	9965321	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9965321C>T	uc002mmp.3	-	5	934	c.906G>A	c.(904-906)agG>agA	p.R302R		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	302	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCGGGAGGCTCCTCTGCACCA	0.607000														27			35		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49395268	49395268	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:49395268G>A	uc001jgi.3	-	16	2564	c.2233C>T	c.(2233-2235)Ctc>Ttc	p.L745F	FRMPD2_uc001jgh.3_Missense_Mutation_p.L713F|FRMPD2_uc001jgj.3_Missense_Mutation_p.L714F	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	745					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGTCCAGAGAGAGAGTCCCAG	0.567000														19			8		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31267739	31267739	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:31267739G>A	uc003jhe.2	+	1	519	c.159G>A	c.(157-159)agG>agA	p.R53R	CDH6_uc003jhd.2_Silent_p.R53R	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	53					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTCAAAAAGGAGCTGGATGT	0.458000														73			40		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68939517	68939517	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:68939517A>G	uc003xxv.1	+	4	529	c.502A>G	c.(502-504)Aca>Gca	p.T168A	PREX2_uc003xxu.1_Missense_Mutation_p.T168A|PREX2_uc011lez.1_Missense_Mutation_p.T103A	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	168	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATATTTAGTAACACCAATACA	0.343000														39			23		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14287092	14287092	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:14287092G>A	uc001mle.3	+	16	2548	c.2280G>A	c.(2278-2280)acG>acA	p.T760T		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	761	TSP type-1 6.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GCCCATGGACGGCCTGGTCAG	0.498000														23			8		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266618	107266618	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:107266618C>T	uc011lvm.2	+	0	75	c.75C>T	c.(73-75)gtC>gtT	p.V25V		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAGTTCAGGTCATCATATTTG	0.423000														54			45		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898020	175898020	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:175898020C>T	uc003iuc.3	+	4	2014	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	ADAM29_uc003iud.3_Silent_p.F448F|ADAM29_uc010irr.3_Silent_p.F448F|ADAM29_uc011cki.2_Silent_p.F448F|ADAM29_uc021xuo.1_Silent_p.F448F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	448	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACTGCAAGTTCCTACCATCAG	0.438000														40			32		0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496451	24496451	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:24496451C>T	uc002kwd.3	-	4	1333	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Silent_p.G368G|CHST9_uc021uij.1_Silent_p.G283G	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	368					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTCAAATTTCCCTACAAAAT	0.428000														62			40		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395846	47395846	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:47395846C>T	uc001cqp.4	-	11	1552	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	501			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGGTGGATTCCATTTTTGGAT	0.587000														36			44		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44027629	44027629	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:44027629C>T	uc002lcb.1	+	3	640	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	RNF165_uc002lby.1_Missense_Mutation_p.P130S|RNF165_uc010dnn.1_5'UTR	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	197							zinc ion binding	p.P197L(1)		NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCACCACTTTCCCAGAAACTC	0.567000														82			52		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295941	20295941	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20295941G>A	uc010tkv.2	+	0	334	c.334G>A	c.(334-336)Gga>Aga	p.G112R		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGGAGGGGAGGGATTACTCCT	0.512000														235			29		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137852630	137852630	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:137852630C>T	uc002tva.1	+	2	1045	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.P239S	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAAGGAGTGTCCTGAACTTCT	0.512000														40			12		0	0	1	0	0
ITGB7	3695	broad.mit.edu	37	12	53586959	53586959	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:53586959G>A	uc009zmv.3	-	10	1762	c.1691C>T	c.(1690-1692)gCc>gTc	p.A564V	ITGB7_uc001scc.3_Missense_Mutation_p.A564V|ITGB7_uc010snz.2_Intron	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	564	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	p.D563Y(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCACAGCTGGCATCGTCACA	0.617000														21			21		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949462	38949462	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:38949462G>A	uc021wvy.1	-	9	1650	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	484					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D483Y(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATCTTCATCAGAATCTGACCC	0.393000														59			27		0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23424817	23424817	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:23424817G>A	uc002dlo.3	-	9	1558	c.1361C>T	c.(1360-1362)cCc>cTc	p.P454L		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	454					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GAGGGAGTTGGGAGGAATGTG	0.478000														46			35		0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113346562	113346562	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:113346562C>T	uc001tuc.3	+	1	508	c.402C>T	c.(400-402)ttC>ttT	p.F134F	OAS1_uc010syn.2_Silent_p.F133F|OAS1_uc010syo.2_Silent_p.F133F|OAS1_uc001tub.3_Silent_p.F134F|OAS1_uc001tud.3_Silent_p.F134F|OAS1_uc009zwf.3_Silent_p.F133F	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	134	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CGCTCAGCTTCGTACTGAGTT	0.572000														72			35		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367210	105367210	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:105367210C>T	uc003ylx.1	+	2	1184	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	379					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GACCTGGGTTCCTCTCAGTGT	0.393000														64			30		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963930	73963930	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:73963930C>A	uc004eby.3	-	2	1079	c.462G>T	c.(460-462)aaG>aaT	p.K154N		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	154					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTACTGCATCCTTGGATTCCA	0.473000														13			42		6.21074e-16	6.28325e-16	1	1	0
CYP4F22	126410	broad.mit.edu	37	19	15651440	15651440	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:15651440G>A	uc002nbh.4	+	7	1018	c.851G>A	c.(850-852)cGg>cAg	p.R284Q		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	284						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GAACGGCGGCGGGCACTGCGT	0.627000														65			17		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70949861	70949861	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:70949861G>A	uc001swb.4	-	16	4158	c.4128C>T	c.(4126-4128)atC>atT	p.I1376I	PTPRB_uc010sto.2_Silent_p.I1286I|PTPRB_uc010stp.2_Silent_p.I1286I|PTPRB_uc001swc.4_Silent_p.I1594I|PTPRB_uc001swa.4_Silent_p.I1506I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1376	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AATCAGGAGGGATCCAAGAAC	0.453000														25			13		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124402817	124402817	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:124402817C>T	uc001lgk.1	+	52	7251	c.7145C>T	c.(7144-7146)tCg>tTg	p.S2382L	DMBT1_uc001lgl.1_Missense_Mutation_p.S2372L|DMBT1_uc001lgm.1_Missense_Mutation_p.S1754L|DMBT1_uc021qaf.1_Missense_Mutation_p.S2382L|DMBT1_uc021qag.1_Missense_Mutation_p.S2372L|DMBT1_uc021qah.1_Missense_Mutation_p.S1754L|DMBT1_uc009xzz.1_Missense_Mutation_p.S2381L|DMBT1_uc010qtx.1_Missense_Mutation_p.S1102L|DMBT1_uc009yab.1_Missense_Mutation_p.S1085L|DMBT1_uc009yac.1_Missense_Mutation_p.S676L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2382					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGTTGAGGTCGAAGAGGGAT	0.607000														50			33		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15656883	15656883	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:15656883G>A	uc001rcv.2	+	5	1617	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	PTPRO_uc001rcw.2_Missense_Mutation_p.E383K|PTPRO_uc001rcu.2_Missense_Mutation_p.E383K	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	383	Fibronectin type-III 4.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AGAAGCACATGAATTTGTTGC	0.368000														44			8		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53845398	53845398	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:53845398C>T	uc003dgv.4	+	47	6614	c.6451C>T	c.(6451-6453)Ctg>Ttg	p.L2151L	CACNA1D_uc003dgu.4_Silent_p.L2171L|CACNA1D_uc003dgy.4_Silent_p.L2127L|CACNA1D_uc003dgw.4_Silent_p.L1818L|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	2151					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGAGGAGGACCTGGCGGATGA	0.622000														24			18		0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110022028	110022028	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:110022028G>A	uc001dxp.3	+	5	1043	c.677G>A	c.(676-678)tGg>tAg	p.W226*	SYPL2_uc010ovk.2_Nonsense_Mutation_p.W162*	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	226	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)		TTCTTCCTGTGGGCCGGGAAC	0.577000														327			98		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28624343	28624343	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:28624343G>A	uc001urw.3	-	5	713	c.631C>T	c.(631-633)Cca>Tca	p.P211S	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.P211S	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	211					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)	ACAACAGCTGGACTTTCTTCT	0.393000			"""Mis, O"""		"""AML, ALL"""									32			19		0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95583617	95583617	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:95583617C>T	uc003hti.3	+	11	1781	c.1630C>T	c.(1630-1632)Ccc>Tcc	p.P544S	PDLIM5_uc011cdx.1_Missense_Mutation_p.P441S|PDLIM5_uc003htj.3_Missense_Mutation_p.P219S|PDLIM5_uc003htk.3_Missense_Mutation_p.P573S|PDLIM5_uc011cdy.2_Missense_Mutation_p.P422S|PDLIM5_uc003hth.3_Missense_Mutation_p.P435S|PDLIM5_uc003htl.3_Missense_Mutation_p.P219S	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	544	LIM zinc-binding 3.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ATGTGAATTTCCCATAGAAGC	0.393000														56			39		0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29454813	29454813	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:29454813G>A	uc011dlq.2	-	0	867	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	289						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CAAACATTTTGAAATCTGTTA	0.493000														40			16		0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219688974	219688974	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:219688974C>T	uc002vjb.1	-	11	1343	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K		NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	442	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCGATCACTTCCCCCAAGCTC	0.582000														30			15		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579967	82579967	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:82579967G>A	uc003uhx.2	-	5	10226	c.9937C>T	c.(9937-9939)Cgg>Tgg	p.R3313W	PCLO_uc003uhv.2_Missense_Mutation_p.R3313W|PCLO_uc010lec.3_Missense_Mutation_p.R278W	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3244					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGATCTGCCGAATCTTTTGC	0.493000														50			39		0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96599352	96599352	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:96599352C>T	uc001vmt.3	-	14	1786	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	539					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity	p.R539Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTTGAAAGCTCGCCAGAGAGC	0.343000														85			16		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49208241	49208241	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:49208241C>T	uc001ngy.3	-	4	855	c.594G>A	c.(592-594)ggG>ggA	p.G198G	FOLH1_uc009yly.3_Silent_p.G183G|FOLH1_uc009ylz.3_Silent_p.G183G|FOLH1_uc001ngz.3_Silent_p.G198G|FOLH1_uc009yma.3_5'UTR	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	198					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TTACAATTTTCCCAGAGCAAT	0.368000														87			8		0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46571458	46571458	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:46571458G>A	uc010hji.3	-	5	1103	c.710C>T	c.(709-711)tCg>tTg	p.S237L	LRRC2_uc003cpu.4_Missense_Mutation_p.S237L	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA.	237										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTGCAAATTCGACATCCGCAG	0.398000														24			18		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51837933	51837933	+	Silent	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:51837933T>A	uc010ufy.2	-	7	1002	c.777A>T	c.(775-777)tcA>tcT	p.S259S	DMXL2_uc002abf.3_Silent_p.S259S|DMXL2_uc010bfa.3_Silent_p.S259S	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	259						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)		CATCATGACATGAAGTTAACA	0.378000														98			46		0	0	1	0	0
EBF4	57593	broad.mit.edu	37	20	2688609	2688609	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:2688609G>A	uc002wgt.4	+	5	687	c.419G>A	c.(418-420)gGg>gAg	p.G140E	EBF4_uc002wgs.4_Non-coding_Transcript	NM_001110514	NP_001103984	Q9BQW3	COE4_HUMAN	Homo sapiens early B-cell factor 4 (EBF4), mRNA.	144					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding										ATCTATGAGGGGCAGGACAAG	0.612000														4			5		0	0	1	0	0
P2RX5	5026	broad.mit.edu	37	17	3593723	3593723	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:3593723C>T	uc002fwi.3	-	4	930	c.531G>A	c.(529-531)ccG>ccA	p.P177P	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Silent_p.P117P|P2RX5_uc002fwk.3_Silent_p.P177P|P2RX5_uc002fwj.3_Silent_p.P153P|P2RX5_uc002fwl.3_Silent_p.P153P|P2RX5_uc002fwm.2_Silent_p.P177P	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	177					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CCACTCACTCCGGCCTGGAGC	0.667000														3			4		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76587306	76587306	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:76587306C>T	uc002fex.1	+	20	3717	c.3578C>T	c.(3577-3579)cCt>cTt	p.P1193L	CNTNAP4_uc002feu.1_Missense_Mutation_p.P1189L|CNTNAP4_uc002fev.1_Missense_Mutation_p.P1054L|CNTNAP4_uc010chb.1_Missense_Mutation_p.P1117L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1190	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CACCCAGACCCTGTCACTGTT	0.607000														11			13		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813514	88813514	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:88813514C>T	uc010iko.1	+	1	458	c.458C>T	c.(457-459)cCc>cTc	p.P153L						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		CATGGTGAGCCCATTGGCAGG	0.468000														52			38		0	0	1	0	0
CA11	770	broad.mit.edu	37	19	49142237	49142237	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:49142237G>A	uc002pjz.1	-	7	1431	c.869C>T	c.(868-870)cCc>cTc	p.P290L	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|DBP_uc002pjx.4_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	Homo sapiens carbonic anhydrase XI (CA11), mRNA.	290						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		GGGCTGCAGGGGCCGGCTGTT	0.647000														22			11		0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188629	70188629	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:70188629C>T	uc002sfz.4	-	0	769	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	64					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						ACCCACAGAGCAGTGTCGGCG	0.657000														29			12		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842559	14842559	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:14842559C>T	uc003zlm.3	-	9	2309	c.1493G>A	c.(1492-1494)cGg>cAg	p.R498Q	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	498					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATCAAATATCCGGAAGACCAC	0.502000														39			49		0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39832651	39832651	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:39832651G>A	uc010ggg.1	-	0	1056	c.906C>T	c.(904-906)ccC>ccT	p.P302P	ZHX3_uc002xjr.1_Silent_p.P302P|ZHX3_uc002xjs.1_Silent_p.P302P|ZHX3_uc002xjt.1_Silent_p.P302P|ZHX3_uc002xju.1_Silent_p.P302P|ZHX3_uc002xjv.1_Silent_p.P302P|ZHX3_uc002xjw.1_Silent_p.P302P	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	302	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TGCTGCTCAGGGGGATCATCA	0.582000														45			30		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101601094	101601094	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:101601094C>T	uc003yjr.3	-	11	1243	c.1092_splice	c.e11+1	p.Q364_splice	SNX31_uc011lha.2_Splice_Site_p.Q159_splice|SNX31_uc011lhb.2_Splice_Site_p.Q265_splice	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	364					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAGAACTCACCTGTTTGGTGT	0.488000														59			28		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98825813	98825813	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:98825813G>A	uc001kmw.2	-	4	696	c.444C>T	c.(442-444)atC>atT	p.I148I	SLIT1_uc009xvh.1_Silent_p.I148I	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	148					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTTTCCTGGGGATGGCCTGGA	0.557000														11			3		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20597447	20597447	+	Missense_Mutation	SNP	G	A	A	rs80248215	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:20597447G>A	uc003gpr.1	+	30	3514	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	SLIT2_uc003gps.1_Missense_Mutation_p.E1096K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1104	EGF-like 5; calcium-binding (Potential).				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CATATGCCCCGAAGGTTACAG	0.428000														50			16		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201029893	201029893	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:201029893G>A	uc001gvv.3	-	25	3534	c.3307C>T	c.(3307-3309)Ccc>Tcc	p.P1103S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1103					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.I1102L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGGTTTTTGGGAATGTAGCAC	0.537000														165			42		0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3298437	3298437	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:3298437G>A	uc003mvm.3	-	4	1098	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	SLC22A23_uc003mvn.3_Silent_p.S85S|SLC22A23_uc003mvo.3_Silent_p.S85S|SLC22A23_uc003mvp.1_Non-coding_Transcript|SLC22A23_uc010jnn.3_Silent_p.S366S	NM_015482	NP_068764	A1A5C7	S22AN_HUMAN	Homo sapiens solute carrier family 22, member 23 (SLC22A23), transcript variant 1, mRNA.	366					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				GCCACCGGAGGGACTCGGGGA	0.547000														125			41		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19744641	19744641	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:19744641C>T	uc002ykw.3	-	6	564	c.533_splice	c.e6-1	p.G178_splice		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	178					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGAGACATTTCCTTTAAAAAA	0.328000														19			10		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372652	175372652	+	Silent	SNP	C	T	T	rs142283399	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:175372652C>T	uc001gkp.1	-	1	681	c.600G>A	c.(598-600)tcG>tcA	p.S200S	TNR_uc009wwu.1_Silent_p.S200S|TNR_uc010pmz.1_Silent_p.S200S	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	200	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S200L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGTAGGGCTCCGAGCAATTCT	0.582000														102			34		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119927624	119927624	+	Missense_Mutation	SNP	G	A	A	rs144704512		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:119927624G>A	uc001ehr.1	+	3	641	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	HAO2_uc001ehq.1_Missense_Mutation_p.R170Q	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	170	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CATGACATTCGAAACCAGTTG	0.403000														33			16		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190424010	190424010	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:190424010C>T	uc001gse.1	-	1	243	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	FAM5C_uc010pot.1_5'UTR	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	4						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGCTCTGCTTCGCCATATCAT	0.463000														20			4		0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101296521	101296521	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:101296521G>A	uc003pqk.3	-	3	633	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	ASCC3_uc011eai.1_Missense_Mutation_p.H4Y|ASCC3_uc003pql.3_Missense_Mutation_p.H102Y|ASCC3_uc010kcv.3_Missense_Mutation_p.H102Y	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCCTTCAAGTGAAATGTCATG	0.403000														6			21		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065818	32065818	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32065818C>T	uc003nzl.2	-	1	360	c.158G>A	c.(157-159)gGa>gAa	p.G53E	TNXB_uc010jts.1_Missense_Mutation_p.G52E|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	53					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGAGGGGCTTCCCACTCCAGC	0.642000														232			192		0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121565915	121565915	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:121565915C>T	uc001leo.3	+	11	1579	c.1363C>T	c.(1363-1365)Cgt>Tgt	p.R455C		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	455	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGGGATTTTTCGTGTTAATTG	0.393000														12			5		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170070203	170070203	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:170070203G>A	uc002ues.3	-	35	6217	c.6004C>T	c.(6004-6006)Cca>Tca	p.P2002S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2002					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTCAGATTTGGAACATTATCT	0.368000														63			17		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466716	50466716	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:50466716G>A	uc001vdk.2	+	0	2172	c.1990G>A	c.(1990-1992)Gat>Aat	p.D664N						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		CAGTGGAAATGATACCAAAGA	0.438000														111			55		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22694963	22694963	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22694963C>T	uc010ajp.1	+	1	199	c.154C>T	c.(154-156)Cga>Tga	p.R52*	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc021rpw.1_Non-coding_Transcript					SubName: Full=HADV36S1; Flags: Fragment;																		GACTAACTTTCGAAGCCTACT	0.428000														32			8		0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127411127	127411127	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:127411127G>A	uc003ejx.3	-	7	971	c.826C>T	c.(826-828)Cct>Tct	p.P276S	MGLL_uc003ejw.3_Missense_Mutation_p.P286S|MGLL_uc011bko.2_Missense_Mutation_p.P256S|MGLL_uc003ejv.3_Missense_Mutation_p.P250S	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	276					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GTGACTTCAGGAAGCTCCTTG	0.537000														46			32		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68181317	68181317	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:68181317C>T	uc001ont.3	+	11	2739	c.2664C>T	c.(2662-2664)ttC>ttT	p.F888F	LRP5_uc009ysg.3_Silent_p.F298F	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	888	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTGGACTTCGTGATGGACA	0.592000														41			23		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546766	9546766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:9546766G>A	uc002wnl.2	-	5	1801	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	PAK7_uc002wnk.2_Missense_Mutation_p.S419F|PAK7_uc002wnj.2_Missense_Mutation_p.S419F|PAK7_uc010gby.1_Missense_Mutation_p.S419F	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	419	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGGTCGGAGGAGGAGCCCCA	0.642000														43			24		0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306717	205306717	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:205306717T>C	uc001hcf.1	-	5	1431	c.863A>G	c.(862-864)aAt>aGt	p.N288S	KLHDC8A_uc010prg.1_Missense_Mutation_p.N175S|KLHDC8A_uc001hcg.1_Missense_Mutation_p.N288S	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	288										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGTGGGTTGATTCCCTGAAAG	0.592000														68			24		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588393	204588393	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:204588393G>A	uc021phy.1	-	0	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.S243F|LRRN2_uc001hbf.1_Missense_Mutation_p.S243F|LRRN2_uc009xbf.1_Missense_Mutation_p.S243F|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	243					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTCATAGAAGGAGAGGCTCTC	0.642000														30			15		0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131155681	131155681	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:131155681C>T	uc011kpm.2	+	15	2073	c.2009C>T	c.(2008-2010)tCa>tTa	p.S670L	MKLN1_uc011kpl.2_Missense_Mutation_p.S647L|MKLN1_uc010lmh.2_Missense_Mutation_p.S670L|MKLN1_uc003vqs.3_Missense_Mutation_p.S463L|MKLN1_uc003vqu.3_Missense_Mutation_p.S160L|MKLN1_uc003vqv.1_Non-coding_Transcript	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	670					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GTGGATCATTCAGACCCAGAA	0.318000														30			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060904	9060904	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9060904C>T	uc002mkp.3	-	2	26746	c.26542G>A	c.(26542-26544)Gaa>Aaa	p.E8848K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8850	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V8847L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGTTTTTTCCACTGATGGG	0.512000														49			88		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110862273	110862273	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:110862273G>A	uc003hzy.4	+	1	751	c.299G>A	c.(298-300)aGa>aAa	p.R100K	EGF_uc011cfu.2_Missense_Mutation_p.R100K|EGF_uc011cfv.2_Missense_Mutation_p.R100K	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	100					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CTTTTGCAAAGAGTTTTTCTG	0.363000														32			8		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56139563	56139563	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:56139563G>A	uc002xyn.4	+	7	1375	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S	PCK1_uc010zzm.2_Silent_p.S87S	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	404	Substrate binding.				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ACCCCAACTCGAGGTTCTGCA	0.587000														81			49		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060468	16060468	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:16060468C>T	uc010xov.2	+	0	651	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCCTCATCATCCTCTCCTATG	0.502000														168			38		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52926998	52926998	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:52926998C>T	uc003gzl.3	+	2	522	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Silent_p.L82L|SPATA18_uc003gzk.1_Silent_p.L82L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	82					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.W81L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTTGCCTTGGCTGGAGGCTTC	0.483000														59			11		0	0	1	0	0
VSX1	30813	broad.mit.edu	37	20	25056932	25056932	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:25056932C>T	uc002wuf.3	-	4	1098	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	VSX1_uc002wue.3_Intron|VSX1_uc010gdd.2_Intron|VSX1_uc010gde.2_Intron|VSX1_uc010gdf.2_Intron	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN	Homo sapiens visual system homeobox 1 (VSX1), transcript variant 1, mRNA.	355					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TGGGGCCCCTCCAGTGCCGTG	0.577000														36			33		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4935975	4935975	+	Nonsense_Mutation	SNP	G	A	A	rs145892529	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4935975G>A	uc001lzr.1	-	0	919	c.919C>T	c.(919-921)Cga>Tga	p.R307*		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCGTCACTCGATCCCGGATC	0.463000														19			31		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39674908	39674908	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:39674908C>T	uc002hwy.3	-	0	363	c.172G>A	c.(172-174)Gga>Aga	p.G58R	KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_Intron	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	58	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CCATATCCTCCTCCTGACCCT	0.602000														52			53		0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148579948	148579948	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:148579948G>C	uc003lpy.2	+	4	656	c.405G>C	c.(403-405)caG>caC	p.Q135H	ABLIM3_uc003lpz.1_Missense_Mutation_p.Q135H|ABLIM3_uc003lqa.1_Missense_Mutation_p.Q143H|ABLIM3_uc003lqb.3_Missense_Mutation_p.Q135H|ABLIM3_uc003lqc.1_Missense_Mutation_p.Q135H|ABLIM3_uc003lqd.1_Missense_Mutation_p.Q135H|ABLIM3_uc003lqe.1_Missense_Mutation_p.Q135H|ABLIM3_uc003lqf.3_Missense_Mutation_p.Q135H	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	135	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTCCCAGTCCATGGCCA	0.557000														33			17		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136597675	136597675	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:136597675G>A	uc004cep.4	-	2	514	c.380C>T	c.(379-381)gCc>gTc	p.A127V	SARDH_uc004ceo.3_Missense_Mutation_p.A127V|SARDH_uc011mdo.2_5'UTR|SARDH_uc011mdn.2_Missense_Mutation_p.A127V	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	127					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCGAGTGTGGGCCAGAAGCTC	0.682000														50			35		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34204872	34204872	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:34204872C>T	uc001bxm.1	-	14	2414	c.2237G>A	c.(2236-2238)aGc>aAc	p.S746N	CSMD2_uc001bxn.1_Missense_Mutation_p.S706N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	706	Sushi 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGCTGGAGGCTGTCCCCAAA	0.567000														46			41		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96963084	96963084	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:96963084T>G	uc010how.1	+	4	1602	c.1559T>G	c.(1558-1560)tTt>tGt	p.F520C	EPHA6_uc003drp.1_Missense_Mutation_p.F520C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	425	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAGTTGAGTTTTTCTCCCAAG	0.403000														67			40		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199232	118199232	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:118199232C>T	uc001two.2	-	3	538	c.483G>A	c.(481-483)tgG>tgA	p.W161*		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	190					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.C160C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGCGGATCCACGGGGTGG	0.647000														39			14		0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34152965	34152965	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:34152965C>T	uc001mvk.3	+	13	1651	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	NAT10_uc010ren.2_Silent_p.I397I	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	469						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AGGAGTCAATCCGATACGCCC	0.493000														66			48		0	0	1	0	0
IKZF5	64376	broad.mit.edu	37	10	124755640	124755640	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:124755640G>A	uc001lha.2	-	3	485	c.186C>T	c.(184-186)tcC>tcT	p.S62S		NM_022466	NP_071911	Q9H5V7	IKZF5_HUMAN	Homo sapiens IKAROS family zinc finger 5 (Pegasus) (IKZF5), mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TTTCATCCAAGGAAACTTCAA	0.423000														46			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046026	9046026	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9046026G>A	uc002mkp.3	-	4	35809	c.35605C>T	c.(35605-35607)Ctt>Ttt	p.L11869F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11871	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						AGTAAACCAAGGGAAAGAGTT	0.502000														146			25		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79267403	79267403	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:79267403G>A	uc010mpk.3	-	10	8677	c.8553C>T	c.(8551-8553)ggC>ggT	p.G2851G	PRUNE2_uc011lsk.2_Silent_p.G100G|PRUNE2_uc011lsl.2_Silent_p.G115G|PRUNE2_uc011lsm.2_Silent_p.G115G|PRUNE2_uc004akj.4_Silent_p.G304G|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Silent_p.G304G	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2851					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTTACCATGGCCAGTGTACT	0.388000														168			54		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45811939	45811939	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:45811939G>A	uc002xsm.3	+	15	1810	c.1436_splice	c.e15-1	p.G479_splice	EYA2_uc010ghp.3_Splice_Site_p.G400_splice|EYA2_uc002xsq.3_Splice_Site_p.G449_splice	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	479					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GTGCGTGCAGGGAAGGAGAGC	0.537000														95			57		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49951225	49951225	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:49951225G>A	uc001ruh.1	+	14	3001	c.2741G>A	c.(2740-2742)aGg>aAg	p.R914K	KCNH3_uc010smj.1_Missense_Mutation_p.R854K	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	914					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCGCCCCACAGGGAGGGTCCG	0.667000														15			9		0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59500176	59500176	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:59500176A>G	uc002agb.3	+	0	1135	c.1037A>G	c.(1036-1038)gAg>gGg	p.E346G	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	346					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	ATCCTGGGAGAGAACGGTATT	0.388000														76			43		0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101097621	101097621	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:101097621C>T	uc002tan.1	+	7	413	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	136					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						ACCCTTTTTCCTTTTCAGGGT	0.448000														95			21		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132527115	132527115	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:132527115G>A	uc010sck.2	-	1	317	c.267C>T	c.(265-267)atC>atT	p.I89I	OPCML_uc001qgu.3_Silent_p.I82I|OPCML_uc001qgs.3_Silent_p.I89I|OPCML_uc001qgt.3_Silent_p.I89I|OPCML_uc010scl.2_Silent_p.I48I	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	89	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGACCAGGATGATCACACGAG	0.522000														26			44		0	0	1	0	0
SYPL1	6856	broad.mit.edu	37	7	105739611	105739611	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:105739611G>A	uc003vdp.3	-	2	323	c.241C>T	c.(241-243)Cca>Tca	p.P81S	SYPL1_uc003vdo.3_Missense_Mutation_p.P63S	NM_006754	NP_874384	Q16563	SYPL1_HUMAN	Homo sapiens synaptophysin-like 1 (SYPL1), transcript variant 1, mRNA.	81	MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CACCTGAATGGATAACCAAAA	0.363000														53			45		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125022946	125022946	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:125022946G>A	uc003yqw.3	+	13	2019	c.1813G>A	c.(1813-1815)Gac>Aac	p.D605N	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	605						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAAATGGCAGACTTCCTGGT	0.488000														128			71		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55140786	55140786	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:55140786G>A	uc003han.4	+	10	1978	c.1647G>A	c.(1645-1647)tgG>tgA	p.W549*	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Nonsense_Mutation_p.W443*|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_5'Flank	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	549					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.W549*(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTGTCATTTGGAAACAGGTAG	0.458000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				88			13		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23382666	23382666	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:23382666C>T	uc002dln.3	+	5	1103	c.927C>T	c.(925-927)ttC>ttT	p.F309F		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	309					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACGTCCCCTTCCTTGCGTCCA	0.592000														27			21		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849114	73849114	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:73849114C>T	uc003xzb.3	+	2	2112	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	508					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACAAGTCTTTCGAGAATAAGT	0.547000														85			50		0	0	1	0	0
POLR2E	5434	broad.mit.edu	37	19	1095392	1095392	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:1095392G>A	uc002lre.4	-	1	1	c.-76_splice	c.e1-1		POLR2E_uc010xgf.2_Splice_Site	NM_002695	NP_002686	P19388	RPAB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide E, 25kDa (POLR2E), mRNA.						interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCGAATCCGAATCAGGCCC	0.716000														23			6		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44013385	44013385	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:44013385C>T	uc002lcb.1	+	1	345	c.294C>T	c.(292-294)ttC>ttT	p.F98F	RNF165_uc002lby.1_Silent_p.F31F|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	98							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GTCCCTCCTTCCTACCTCAGG	0.697000														33			13		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321468	52321468	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:52321468C>T	uc003xqu.4	-	16	2817	c.2716G>A	c.(2716-2718)Gaa>Aaa	p.E906K	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	906					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCCTGGGATTCCCGCTCCGAG	0.582000														32			15		0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758616	5758616	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5758616C>T	uc001mbt.2	+	0	939	c.870C>T	c.(868-870)atC>atT	p.I290I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TGCACAACATCATCCCCCCTT	0.408000														225			70		0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116729104	116729104	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:116729104G>A	uc001ppy.3	-	19	2795	c.2759C>T	c.(2758-2760)tCg>tTg	p.S920L	SIK3_uc001ppz.3_Missense_Mutation_p.S759L|SIK3_uc001pqa.3_Missense_Mutation_p.S860L|SIK3_uc001ppw.3_Missense_Mutation_p.S277L|SIK3_uc001ppx.3_Missense_Mutation_p.S298L|SIK3_uc001pqb.3_Missense_Mutation_p.S223L	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	920	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCCGGTGAGCGAATGCCGGGG	0.592000														211			322		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7174710	7174710	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:7174710G>A	uc002mgd.1	-	3	1116	c.1007C>T	c.(1006-1008)cCc>cTc	p.P336L	INSR_uc002mge.1_Missense_Mutation_p.P336L|INSR_uc002mgf.3_Missense_Mutation_p.P336L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	336	Cys-rich.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCACACCTTGGGACAGGGACC	0.592000														281			306		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179567353	179567353	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179567353G>A	uc021vsy.1	-	103	26754	c.26529C>T	c.(26527-26529)atC>atT	p.I8843I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.I5504I|TTN_uc010fre.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9770	Ig-like 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCACCACGATGTTCTGTA	0.408000														30			29		0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29354162	29354162	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:29354162G>A	uc002rmv.3	+	2	411	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	CLIP4_uc002rmu.3_Missense_Mutation_p.E58K|CLIP4_uc010ezm.1_Missense_Mutation_p.E58K|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.E40K	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	58										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATCATGCCAGGAAATTCTTTT	0.284000														33			12		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234077950	234077950	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:234077950G>A	uc010zmo.2	+	13	1622	c.1469_splice	c.e13-1	p.G490_splice	INPP5D_uc010zmp.2_Splice_Site_p.G489_splice	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	519					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CTTCTTTTTAGGGAACAAGGG	0.488000														8			4		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796851	93796851	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:93796851C>T	uc001pep.2	+	2	750	c.593C>T	c.(592-594)tCt>tTt	p.S198F		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	198	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GACATCTGCTCTGGGCTAATT	0.512000														75			36		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50221382	50221382	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:50221382G>A	uc002xwg.1	-	26	2981	c.2981C>T	c.(2980-2982)tCc>tTc	p.S994F	ATP9A_uc010gih.1_Missense_Mutation_p.S858F|ATP9A_uc002xwf.1_Missense_Mutation_p.S166F	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	994					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAACACCAGGGAGGCGATGTA	0.592000														21			7		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33486588	33486588	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:33486588G>A	uc001iwx.4	-	11	2437	c.1914C>T	c.(1912-1914)acC>acT	p.T638T	NRP1_uc001iwv.4_Silent_p.T638T|NRP1_uc001iwy.4_Silent_p.T631T|NRP1_uc009xlz.3_Silent_p.T631T|NRP1_uc001iww.4_Silent_p.T450T|NRP1_uc001iwz.2_Silent_p.T638T|NRP1_uc001ixa.2_Silent_p.T603T	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	638					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTGATTGTATGGTGCTGTCTA	0.443000														19			7		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26692740	26692740	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:26692740C>T	uc001mra.2	-	14	2079	c.1766G>A	c.(1765-1767)gGa>gAa	p.G589E	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	589					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TCTTCTGAGTCCGTTCTGTAA	0.438000														116			90		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74307655	74307655	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:74307655C>T	uc002skb.4	+	2	2211	c.2211C>T	c.(2209-2211)atC>atT	p.I737I		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	737							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCATCCGGATCGAGAAGGTCA	0.547000														21			11		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138732465	138732465	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:138732465G>A	uc003vun.3	-	12	2972	c.2584C>T	c.(2584-2586)Cca>Tca	p.P862S		NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	862	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TCGAACTGTGGAGGAGGGCTC	0.418000														71			19		0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995435	2995435	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:2995435G>A	uc010vrb.2	-	0	856	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	286					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TAGATGAAGGGATTCATCATG	0.478000														86			17		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111556630	111556630	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:111556630G>A	uc010yxk.1	+	6	724	c.500G>A	c.(499-501)gGa>gAa	p.G167E	ACOXL_uc021vmm.1_5'UTR|ACOXL_uc021vmn.1_5'UTR	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	167					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	p.G167*(1)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GATGAAAACGGAAGCTTGTAC	0.507000														50			29		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113686	94113686	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:94113686A>G	uc001pet.2	-	3	1073	c.901T>C	c.(901-903)Ttt>Ctt	p.F301L		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	301						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGAGGGCAAAGAGGACTACC	0.527000														48			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179633551	179633551	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179633551A>C	uc021vsy.1	-	37	9237	c.9012T>G	c.(9010-9012)aaT>aaG	p.N3004K	TTN_uc021vsz.1_Missense_Mutation_p.N2958K|TTN_uc021vta.1_Missense_Mutation_p.N2958K|TTN_uc021vtb.1_Missense_Mutation_p.N2958K|TTN_uc002unb.2_Missense_Mutation_p.N3004K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3004	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCACACCATTCTTTAACC	0.403000														26			29		0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918682	21918682	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:21918682C>T	uc001rff.3	-	2	1588	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	417						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GTTTTGATTTCCTTCTGGAGT	0.423000														44			43		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664487	44664487	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:44664487C>T	uc010zxl.1	+	3	496	c.420C>T	c.(418-420)ttC>ttT	p.F140F	SLC12A5_uc002xra.2_Silent_p.F117F|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Silent_p.F117F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	140					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCATCCTCTTCCTGCGGCTCA	0.612000														34			21		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9875182	9875182	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:9875182G>A	uc001mib.2	-	19	2579	c.2441C>T	c.(2440-2442)tCt>tTt	p.S814F	SBF2_uc001mif.3_Missense_Mutation_p.S570F|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	814					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCGCACAACAGAATTGGCAAT	0.403000														101			53		0	0	1	0	0
OR1D4	653166	broad.mit.edu	37	17	3144091	3144091	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:3144091G>A	uc002fvf.3	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E						Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA.																		ACGGTGCTGGGAAATGTGCTC	0.532000														50			25		0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6222317	6222317	+	Missense_Mutation	SNP	G	A	A	rs151080263		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:6222317G>A	uc002mek.3	-	5	1089	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	309					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GGAGCACTCCGGGACCCCTTC	0.672000			T	MLL	AL									29			6		0	0	1	0	0
TM4SF5	9032	broad.mit.edu	37	17	4685923	4685923	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:4685923C>T	uc002fyw.1	+	2	415	c.384C>T	c.(382-384)ttC>ttT	p.F128F		NM_003963	NP_003954	O14894	T4S5_HUMAN	Homo sapiens transmembrane 4 L six family member 5 (TM4SF5), mRNA.	128						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GCTACCACTTCGAAGACACCG	0.607000														32			24		0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39222572	39222572	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:39222572C>T	uc003awk.3	-	2	1185	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	344	Pentaxin.					integral to membrane	metal ion binding	p.P343S(1)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GTTGGCCTGCCCGGGCACTGA	0.662000														30			31		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152496921	152496921	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:152496921G>A	uc021vrb.1	-	58	8662	c.8633C>T	c.(8632-8634)cCc>cTc	p.P2878L	NEB_uc002txu.3_Missense_Mutation_p.P2878L|NEB_uc021vrc.1_Missense_Mutation_p.P2878L|NEB_uc010fnx.3_Missense_Mutation_p.P2878L|NEB_uc021vrd.1_Missense_Mutation_p.P2878L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2878					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTCTGGTCGGGCAGGCATGT	0.542000														84			65		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30890280	30890280	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:30890280C>T	uc011dmz.2	+	20	2157	c.2076C>T	c.(2074-2076)tcC>tcT	p.S692S	VARS2_uc003nsc.2_Silent_p.S662S|VARS2_uc011dmx.2_Silent_p.S662S|VARS2_uc011dmy.2_Silent_p.S522S|VARS2_uc011dna.2_Silent_p.S660S|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Silent_p.S100S|VARS2_uc010jsg.2_Silent_p.S34S|VARS2_uc010jsh.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	662					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TGAGCAAGTCCCTGGGGAATG	0.602000														130			38		0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55910510	55910510	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:55910510G>A	uc002xye.3	+	7	727	c.634_splice	c.e7+1	p.N212_splice	MIR5095_uc021wfc.1_5'Flank|SPO11_uc002xyf.3_Splice_Site_p.N174_splice	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA.	212					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AAGGAATTCGGAGTATCCTTT	0.303000								Editing and processing nucleases						12			6		0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179250931	179250931	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:179250931T>A	uc003mkw.4	+	2	470	c.375T>A	c.(373-375)aaT>aaA	p.N125K	SQSTM1_uc011dgr.2_Missense_Mutation_p.N41K|SQSTM1_uc011dgs.2_Missense_Mutation_p.N41K|SQSTM1_uc003mkx.3_Missense_Mutation_p.N41K	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	125	Interaction with GABRR3 (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCACCCCAATGTGATCTGCG	0.602000														76			32		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76487643	76487643	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:76487643G>A	uc010dhp.2	-	42	6676	c.6551C>T	c.(6550-6552)tCc>tTc	p.S2184F		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATGATGGTGGAGAACAGGCC	0.617000														23			15		0	0	1	0	0
PYDC2	152138	broad.mit.edu	37	3	191179128	191179128	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:191179128C>T	uc011bso.2	+	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	Homo sapiens pyrin domain containing 2 (PYDC2), mRNA.	59	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						TAGAAATCTTCACCAGCCACT	0.512000														56			33		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862279	14862279	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:14862279G>A	uc003bzc.3	+	0	1811	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	FGD5_uc011avk.2_Silent_p.E567E	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	567					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGGAGCCTGAGGGGTCAGGGT	0.552000														24			8		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586818	42586818	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:42586818G>A	uc003xpi.1	+	4	496	c.368G>A	c.(367-369)gGc>gAc	p.G123D		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	123					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGTGCTGACGGCCGCTTCGAA	0.498000														38			20		0	0	1	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538897	23538897	+	Missense_Mutation	SNP	C	T	T	rs150251660		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:23538897C>T	uc011kzx.2	-	1	590	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	Homo sapiens NK3 homeobox 1 (NKX3-1), transcript variant 1, mRNA.	181					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GAGCTGCTTTCGCTTAGTCTT	0.582000														127			60		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2942391	2942391	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:2942391A>T	uc003bpc.3	+	10	1302	c.963A>T	c.(961-963)aaA>aaT	p.K321N	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.K321N|CNTN4_uc003bpd.1_Missense_Mutation_p.K321N|CNTN4_uc003bpe.3_5'UTR|CNTN4_uc003bpf.3_5'UTR	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	321	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGATTCAAAAAATAAATGATA	0.353000														54			28		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185878601	185878601	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:185878601A>G	uc001grq.1	+	4	983	c.754A>G	c.(754-756)Agt>Ggt	p.S252G		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	252					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						TGTGTCTTTGAGTGGGCCTTC	0.368000														24			12		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43640713	43640713	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:43640713T>C	uc004dfz.4	-	8	1183	c.1007A>G	c.(1006-1008)aAc>aGc	p.N336S	MAOB_uc011mkx.2_Missense_Mutation_p.N320S|MAOB_uc011mky.2_Missense_Mutation_p.N320S	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	336					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GGCAGCATAGTTGCCTTCAGG	0.408000														8			11		0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48718290	48718290	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:48718290A>T	uc002rwm.3	+	14	1765	c.1580A>T	c.(1579-1581)tAt>tTt	p.Y527F	PPP1R21_uc002rwj.3_Missense_Mutation_p.Y527F|PPP1R21_uc002rwl.3_Missense_Mutation_p.Y481F|PPP1R21_uc002rwk.3_Missense_Mutation_p.Y527F|PPP1R21_uc010yok.2_Missense_Mutation_p.Y527F	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.	527										endometrium(2)|kidney(4)|lung(9)	15						GCTGCTGCCTATATGAAGTCT	0.393000														15			13		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83440957	83440957	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:83440957G>A	uc002bjd.2	-	6	1302	c.1135C>T	c.(1135-1137)Cca>Tca	p.P379S	FSD2_uc010uol.1_Missense_Mutation_p.P379S|FSD2_uc010uom.1_Missense_Mutation_p.P379S	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	379	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GGGACCTGTGGATTTATGACT	0.512000														16			5		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662665	40662665	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:40662665C>T	uc011aor.2	+	4	2642	c.2431C>T	c.(2431-2433)Cga>Tga	p.R811*	TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Nonsense_Mutation_p.R811*|TNRC6B_uc003ayo.3_Nonsense_Mutation_p.R615*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	811					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						TGAGACGGGCCGACAGCCCAA	0.572000														25			34		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160129280	160129280	+	Silent	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:160129280C>A	uc001fve.4	+	5	1221	c.742C>A	c.(742-744)Cga>Aga	p.R248R	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	248					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGGAGACCCGAAACATCTG	0.488000														80			4		1	1	1	1	0
ZFP106	64397	broad.mit.edu	37	15	42743379	42743379	+	Missense_Mutation	SNP	G	A	A	rs142329440		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:42743379G>A	uc001zpw.3	-	1	1349	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.A124V|ZFP106_uc001zpy.1_Missense_Mutation_p.A364V	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	341						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TTCCCTTGCCGCACTGCCATT	0.468000														46			31		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8216228	8216228	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:8216228C>T	uc003gkv.4	+	4	503	c.402C>T	c.(400-402)atC>atT	p.I134I	SH3TC1_uc003gkw.4_Silent_p.I58I|SH3TC1_uc003gkx.4_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	134							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TGCTGTCCATCCACAGTGACC	0.512000														42			12		0	0	1	0	0
SLPI	6590	broad.mit.edu	37	20	43881663	43881663	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:43881663G>A	uc002xnm.1	-	2	396	c.374C>T	c.(373-375)tCc>tTc	p.S125F		NM_003064	NP_003055	P03973	SLPI_HUMAN	Homo sapiens secretory leukocyte peptidase inhibitor (SLPI), mRNA.	125	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GGAAACGCAGGATTTCCCACA	0.552000														72			50		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431353	140431353	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140431353G>A	uc003lik.1	+	0	375	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	100	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCAAAGCCGACCCTTGTGT	0.522000														66			49		0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	T	T	rs104894226		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:534285C>T	uc001lpv.3	-	1	226	c.38G>A	c.(37-39)gGt>gAt	p.G13D	HRAS_uc010qvw.2_Missense_Mutation_p.G13D|HRAS_uc010qvx.2_Missense_Mutation_p.G13D|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	13			G -> C (in FCSS).|G -> D (in FCSS).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G13R(65)|p.G12S(58)|p.G12D(44)|p.G13V(26)|p.G12C(25)|p.G13D(20)|p.G12R(12)|p.G13S(9)|p.G12A(8)|p.G13C(7)|p.G12_G13insAG(2)|p.G13G(1)|p.G12T(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)				35			29		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21897229	21897229	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:21897229G>A	uc001war.2	-	1	1174	c.1109C>T	c.(1108-1110)aCc>aTc	p.T370I	CHD8_uc001was.2_Missense_Mutation_p.T91I	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	370	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CACTGGCTGGGTGGAGGGTGG	0.542000														126			15		0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407772	1407772	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:1407772G>A	uc010nct.2	+	6	786	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.R155Q|CSF2RA_uc004cpq.2_Missense_Mutation_p.R155Q|CSF2RA_uc004cpn.2_Missense_Mutation_p.R155Q|CSF2RA_uc004cpo.2_Missense_Mutation_p.R155Q|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.R22Q|CSF2RA_uc004cpp.2_Missense_Mutation_p.R155Q|CSF2RA_uc010ncv.2_Missense_Mutation_p.R155Q|CSF2RA_uc004cpr.2_Missense_Mutation_p.R155Q	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	155						extracellular region|integral to plasma membrane	cytokine receptor activity	p.R155*(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTGTACATACGAAACTCAAAG	0.413000														109			53		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474550	140474550	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140474550G>A	uc003lil.3	+	0	314	c.176G>A	c.(175-177)gGa>gAa	p.G59E	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	59	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGAGATAGGAGAACTTGCT	0.498000														44			33		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718370	103718370	+	Missense_Mutation	SNP	C	T	T	rs143297386	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:103718370C>T	uc001vpy.4	-	0	827	c.230G>A	c.(229-231)gGa>gAa	p.G77E		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	77					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGGCATGATTCCAAACTGACA	0.522000														73			35		0	0	1	0	0
C12orf43	64897	broad.mit.edu	37	12	121454265	121454265	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:121454265T>C	uc009zxa.1	-	0	36	c.13A>G	c.(13-15)Agt>Ggt	p.S5G	C12orf43_uc001tzh.1_Missense_Mutation_p.S5G|C12orf43_uc010szo.1_5'UTR|C12orf43_uc010szp.1_Missense_Mutation_p.S5G|C12orf43_uc001tzi.1_Missense_Mutation_p.S5G	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	5										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTGTGCCACTGGGCGCCGCC	0.607000														225			66		0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113082325	113082325	+	Splice_Site	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:113082325T>C	uc003ead.2	-	20	2838	c.2771_splice	c.e20+1	p.S924_splice	WDR52_uc003eae.2_Splice_Site_p.S924_splice	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	924										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCCCATACCTGTAGGCTTTG	0.358000														22			9		0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132833929	132833929	+	Missense_Mutation	SNP	C	T	T	rs145280221	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:132833929C>T	uc010nrn.2	-	4	1426	c.1229G>A	c.(1228-1230)cGa>cAa	p.R410Q	GPC3_uc004exe.2_Missense_Mutation_p.R387Q|GPC3_uc011mvh.2_Missense_Mutation_p.R371Q|GPC3_uc010nro.2_Missense_Mutation_p.R333Q|GPC3_uc010nrp.2_Missense_Mutation_p.R259Q	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	387						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCACCTTCTTCGGCTGGATAA	0.318000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					9			35		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58095013	58095013	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:58095013C>T	uc003djj.2	+	13	2328	c.2163C>T	c.(2161-2163)gtC>gtT	p.V721V	FLNB_uc010hne.2_Silent_p.V721V|FLNB_uc003djk.2_Silent_p.V721V|FLNB_uc010hnf.2_Silent_p.V721V|FLNB_uc003djl.2_Silent_p.V552V|FLNB_uc003djm.2_Silent_p.V552V	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	721					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTGCTGTGGTCTGGGGAGGCG	0.547000														30			10		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588557	247588557	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:247588557C>T	uc001icr.3	+	4	1950	c.1812C>T	c.(1810-1812)atC>atT	p.I604I	NLRP3_uc001ics.3_Silent_p.I604I|NLRP3_uc001icu.3_Silent_p.I604I|NLRP3_uc001icw.3_Silent_p.I604I|NLRP3_uc001icv.3_Silent_p.I604I|NLRP3_uc010pyw.2_Silent_p.I602I|NLRP3_uc001ict.1_Silent_p.I602I	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	604					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)			CTCAGCAAATCAGGCTGGAGC	0.448000														26			16		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878674	24878674	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:24878674C>T	uc001wpf.4	+	3	1992	c.1674C>T	c.(1672-1674)ccC>ccT	p.P558P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	558					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGAAAATCCCTCCAGAACTC	0.552000														20			3		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28712584	28712584	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:28712584C>T	uc002kwn.3	-	13	2447	c.2185G>A	c.(2185-2187)Gcc>Acc	p.A729T	DSC1_uc002kwm.3_Missense_Mutation_p.A729T	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	729					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTTGCTGGGCTATGTCTTCT	0.343000														43			22		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113073115	113073115	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:113073115G>A	uc021qqp.1	+	1	433	c.61G>A	c.(61-63)Gat>Aat	p.D21N	NCAM1_uc001pno.3_5'UTR|NCAM1_uc001pnp.3_Missense_Mutation_p.D21N|NCAM1_uc021qqo.1_Missense_Mutation_p.D21N|NCAM1_uc001pnq.3_Missense_Mutation_p.D21N|NCAM1_uc001pnr.3_Missense_Mutation_p.D21N	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	23	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCTGCAGGTGGATATTGTTCC	0.398000														12			10		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072963	15072963	+	Silent	SNP	G	A	A	rs115350519	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:15072963G>A	uc002naa.1	-	4	793	c.786C>T	c.(784-786)tcC>tcT	p.S262S	SLC1A6_uc010dzu.1_Silent_p.S262S|SLC1A6_uc010xod.1_Silent_p.S198S|SLC1A6_uc002nab.3_Silent_p.S262S|SLC1A6_uc002nac.3_Silent_p.S262S	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	262					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGCCATTGGCGGAGCCAGGCA	0.582000														58			16		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93496705	93496705	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:93496705C>T	uc002bsp.3	+	13	2196	c.1621C>T	c.(1621-1623)Cct>Tct	p.P541S	CHD2_uc002bso.1_Missense_Mutation_p.P541S	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	541	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.P541H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TATAGTCGTCCCTTTATCCAC	0.478000														66			53		0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897355	61897355	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:61897355C>T	uc001nsw.1	+	3	558	c.356C>T	c.(355-357)tCc>tTc	p.S119F	INCENP_uc009ynv.3_Missense_Mutation_p.S119F|INCENP_uc009ynw.1_Missense_Mutation_p.S119F|INCENP_uc001nsx.1_Missense_Mutation_p.S119F	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	119					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	p.G118D(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAGAACGGCTCCGTCCTGCGG	0.642000														39			23		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790312	4790312	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4790312G>A	uc010qyl.2	-	0	836	c.836C>T	c.(835-837)gCt>gTt	p.A279V		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	279						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTATACATTAGCCATCACTGA	0.483000														75			7		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328375	57328375	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:57328375G>A	uc002qnu.2	-	6	1786	c.1435C>T	c.(1435-1437)Ctc>Ttc	p.L479F	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.L450F|PEG3_uc002qnv.2_Missense_Mutation_p.L479F|PEG3_uc002qnw.2_Missense_Mutation_p.L355F|PEG3_uc002qnx.2_Missense_Mutation_p.L353F|PEG3_uc010etr.2_Missense_Mutation_p.L479F	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	479					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TACTCATAGAGGTTCTCTCTA	0.443000														79			21		0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52584443	52584443	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:52584443G>A	uc003des.2	-	28	4903	c.4891C>T	c.(4891-4893)Ctg>Ttg	p.L1631L	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Silent_p.L1524L|PBRM1_uc003der.2_Silent_p.L1544L|PBRM1_uc003det.2_Silent_p.L1539L|PBRM1_uc003deu.2_Silent_p.L1594L|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Silent_p.L1576L|PBRM1_uc010hmk.1_Silent_p.L1551L|PBRM1_uc003dey.2_Silent_p.L1524L	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1631					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTACCTGCCAGTGTCTGATCC	0.453000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									27			16		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183397	197183397	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:197183397C>T	uc002utm.1	-	8	2400	c.2217G>A	c.(2215-2217)cgG>cgA	p.R739R	HECW2_uc002utl.1_Silent_p.R383R	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	739	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGCTCCCCCTCCGCTGCCAGA	0.662000														30			10		0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28913330	28913330	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:28913330G>A	uc002dro.1	+	15	2431	c.2247G>A	c.(2245-2247)gaG>gaA	p.E749E	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Silent_p.E749E|ATP2A1_uc002drp.1_Silent_p.E624E	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	749					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGTGGAGGAGGGCCGCGCCA	0.592000														39			5		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147247	77147247	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:77147247G>A	uc011bgk.2	+	1	787	c.144G>A	c.(142-144)acG>acA	p.T48T	ROBO2_uc021xat.1_Silent_p.T64T|ROBO2_uc003dpy.4_Silent_p.T48T|ROBO2_uc003dpz.3_Silent_p.T48T|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	48	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.T48K(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCGAGCCCACGACTCTGAACT	0.592000														14			13		0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38029373	38029373	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:38029373C>T	uc002hte.3	+	5	855	c.702C>T	c.(700-702)atC>atT	p.I234I	ZPBP2_uc002htf.3_Silent_p.I212I	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	234					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATCATAATATCCTCCAGGTGA	0.428000														29			8		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109867326	109867326	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:109867326G>A	uc003ptn.2	-	25	3046	c.2969C>T	c.(2968-2970)cCt>cTt	p.P990L	AKD1_uc011eat.1_Missense_Mutation_p.P69L	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	990					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TCTTAATGGAGGAGCCTGTCA	0.443000														41			49		0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122642	75122642	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:75122642C>T	uc002ayu.1	+	2	1652	c.424C>T	c.(424-426)Cag>Tag	p.Q142*		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	Homo sapiens complexin 3 (CPLX3), mRNA.	142						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						GGACAAGGCCCAGGCCACACT	0.612000														31			20		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373427	56373427	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56373427G>A	uc002qmd.4	+	4	2510	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	NLRP4_uc002qmf.3_Silent_p.L621L|NLRP4_uc010etf.3_Silent_p.L527L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	696							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGCCAGACTTGAAATACCTGA	0.443000														53			14		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202163199	202163199	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:202163199C>T	uc001gxu.3	+	0	82	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S		NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	28	LRRNT.					integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						cgccccccagcccggcccggg	0.771000														5			3		0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76621481	76621481	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:76621481C>T	uc003kfa.3	+	2	562	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F	PDE8B_uc003kfd.3_Missense_Mutation_p.L173F|PDE8B_uc003kfe.3_Missense_Mutation_p.L173F|PDE8B_uc003kfb.3_Missense_Mutation_p.L153F|PDE8B_uc003kfc.3_Missense_Mutation_p.L173F	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	173					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TGAATGCTTTCTTGATAAGCA	0.423000														324			144		0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146127223	146127223	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:146127223A>C	uc003qla.3	-	1	518	c.319T>G	c.(319-321)Tat>Gat	p.Y107D	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	107							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AGATTTTCATATGATTTCCGG	0.428000														44			58		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170033035	170033035	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:170033035C>T	uc002ues.3	-	53	10670	c.10457G>A	c.(10456-10458)gGa>gAa	p.G3486E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3486	EGF-like 13.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GAACCCTTTTCCTCCTGGCTT	0.517000														45			16		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5363925	5363925	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5363925G>A	uc001map.1	-	0	830	c.830C>T	c.(829-831)gCc>gTc	p.A277V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.A277V	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A277P(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAAAATAGGCATAGCTCAT	0.383000														32			43		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460392	142460392	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:142460392C>T	uc003wak.2	+	3	582	c.565C>T	c.(565-567)Ctt>Ttt	p.L189F	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.L129F	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	189	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TGTGGGCTTCCTTGAGGGAGG	0.537000														94			17		0	0	1	0	0
SIRT1	23411	broad.mit.edu	37	10	69666591	69666591	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:69666591C>T	uc001jnd.3	+	4	1040	c.987C>T	c.(985-987)ttC>ttT	p.F329F	SIRT1_uc010qis.2_Silent_p.F34F|SIRT1_uc009xpp.3_Silent_p.F137F|SIRT1_uc001jne.3_Silent_p.F26F	NM_012238	NP_001135970	Q96EB6	SIRT1_HUMAN	Homo sapiens sirtuin 1 (SIRT1), transcript variant 1, mRNA.	329	Deacetylase sirtuin-type.				DNA repair|DNA replication|apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of DNA repair|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|rRNA processing|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	PML body|chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|rDNA heterochromatin	HLH domain binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|bHLH transcription factor binding|histone binding|identical protein binding|mitogen-activated protein kinase binding|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GTCACAAATTCATAGCCTTGT	0.388000														17			22		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60921782	60921783	+	Silent	DNP	GG	AA	AA			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:60921782_60921783GG>AA	uc002ycq.3	-	7	1213_1214	c.1146_1147CC>TT	c.(1144-1149)agcctg>agTTtg	p.382_383SL>SL	LAMA5_uc021wfw.1_Silent_p.382_383SL>SL	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	382	Laminin EGF-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGCCATCCAGGCTCTGGCTGG	0.658000														26			10		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49009302	49009302	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:49009302C>T	uc003gyv.3	+	7	1327	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	CWH43_uc011bzl.2_Missense_Mutation_p.S355F	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	382					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AAAAACAGTTCTAAAGTGCTT	0.274000														28			10		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166904678	166904678	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:166904678G>A	uc001gdx.2	-	5	796	c.740C>T	c.(739-741)cCt>cTt	p.P247L		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	247						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GACAGAGGGAGGGTACCCGGC	0.592000														28			18		0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51679737	51679737	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:51679737C>T	uc011bdt.2	+	16	2912	c.2787C>T	c.(2785-2787)gtC>gtT	p.V929V	RAD54L2_uc003dbh.3_Silent_p.V518V|RAD54L2_uc011bdu.2_Silent_p.V623V|RAD54L2_uc003dbj.3_Silent_p.V255V	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	929						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGGAGTCAGTCCTGCAACTGG	0.502000														23			4		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835861	247835861	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:247835861C>T	uc001idi.1	-	0	483	c.483G>A	c.(481-483)atG>atA	p.M161I		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGTCAACCTCATGATAAGAG	0.463000														52			11		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1874623	1874623	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:1874623C>T	uc003wpr.3	+	22	2869	c.2691C>T	c.(2689-2691)ttC>ttT	p.F897F	ARHGEF10_uc003wps.3_Silent_p.F859F|ARHGEF10_uc003wpv.3_Silent_p.F629F|ARHGEF10_uc010lre.3_Intron	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	922					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CACATGGTTTCCTGTGGGTAA	0.393000														34			29		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89231920	89231921	+	Splice_Site	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:89231920_89231921CC>TT	uc021vkt.1	-	140		c.8891_splice	c.e140-1		abParts_uc021vku.1_Intron					Parts of antibodies, mostly variable regions.																		ACTGAGGAGTCCTGATCAGTCA	0.535000														52			8		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139826	3139826	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:3139826G>A	uc002ctv.1	-	4	1532	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L	ZSCAN10_uc002cty.1_Silent_p.L143L|ZSCAN10_uc002ctw.1_Silent_p.L400L|ZSCAN10_uc002ctx.1_Silent_p.L410L	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	482					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGGGCCACCAGGTGCTCGCTG	0.736000														2			4		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101629886	101629886	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	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														61			18		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3653727	3653727	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:3653727G>A	uc002fwo.4	-	15	2042	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	648					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACCAGCCATGGACATGCCGAA	0.622000														41			9		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907847	12907847	+	Missense_Mutation	SNP	C	T	T	rs150230498		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:12907847C>T	uc010obf.2	-	1	522	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	LOC649330_uc009vno.2_Missense_Mutation_p.R99Q	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	99							nucleic acid binding|nucleotide binding										CGCTGCTGATCGTTTCACACC	0.488000														75			18		0	0	1	0	0
TIMP1	7076	broad.mit.edu	37	X	47442821	47442821	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:47442821C>T	uc004dif.3	+	1	199	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	SYN1_uc004did.3_Intron|SYN1_uc004die.3_Intron|TIMP1_uc011mlr.1_5'UTR|TIMP1_uc010nht.1_5'UTR	NM_003254	NP_003245	P01033	TIMP1_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 1 (TIMP1), mRNA.	3					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						CACCATGGCCCCCTTTGAGCC	0.667000														11			27		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627558	21627558	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:21627558G>A	uc004czx.2	+	19	2995	c.2515G>A	c.(2515-2517)Ggg>Agg	p.G839R	CNKSR2_uc004czw.3_Missense_Mutation_p.G839R|CNKSR2_uc011mjn.2_Missense_Mutation_p.G790R|CNKSR2_uc011mjo.2_Missense_Mutation_p.G809R|CNKSR2_uc004czy.3_Missense_Mutation_p.G431R	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	839					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAATGGAAATGGGGGCAAGCC	0.532000														12			42		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108172974	108172974	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:108172974C>T	uc003dxa.1	-	21	2395	c.2338G>A	c.(2338-2340)Ggg>Agg	p.G780R		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	780	Actin-binding (By similarity).|Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCCAGAAACCCAGCTTTAAAA	0.398000														33			15		0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45490630	45490630	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:45490630C>T	uc002pai.3	+	7	1041	c.987C>T	c.(985-987)ttC>ttT	p.F329F	CLPTM1_uc010ejv.1_Silent_p.F227F|CLPTM1_uc010xxf.2_Silent_p.F227F|CLPTM1_uc010xxg.2_Silent_p.F315F	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	329					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CCTGGAACTTCCTGGGTGATG	0.647000														140			42		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79056047	79056047	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:79056047C>T	uc002bej.4	-	21	4945	c.4734G>A	c.(4732-4734)tgG>tgA	p.W1578*		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1578	TSP type-1 8.				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						TCACCTGGCCCCAGGGCCCCA	0.692000														11			12		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079992	44079992	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:44079992C>T	uc002rtq.3	+	5	1039	c.949C>T	c.(949-951)Cct>Tct	p.P317S	ABCG8_uc010yoa.2_Missense_Mutation_p.P317S	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	317					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTACAGCAATCCTGCTGACTT	0.597000														240			75		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882344	152882344	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152882344C>T	uc021ozl.1	+	0	71	c.71C>T	c.(70-72)cCt>cTt	p.P24L	IVL_uc001fau.3_Missense_Mutation_p.P24L	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	24					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGACTGTTCCTCCTCCAGTC	0.557000														33			36		0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186370169	186370169	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:186370169C>T	uc010hyq.3	+	7	1159	c.898C>T	c.(898-900)Cca>Tca	p.P300S	FETUB_uc011brz.2_Missense_Mutation_p.P152S|FETUB_uc003fqn.3_Missense_Mutation_p.P300S|FETUB_uc010hyr.3_Missense_Mutation_p.P263S|FETUB_uc010hys.3_Missense_Mutation_p.P152S|FETUB_uc003fqp.4_Missense_Mutation_p.P235S	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	300						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAAAGCTGGGCCAAGAGGATC	0.498000														100			34		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244034	46244034	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:46244034C>T	uc001ros.1	+	14	2128	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S	ARID2_uc001ror.3_Missense_Mutation_p.P710S|ARID2_uc009zkg.1_Missense_Mutation_p.P166S|ARID2_uc009zkh.1_Missense_Mutation_p.P337S|ARID2_uc001rou.1_Missense_Mutation_p.P44S	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	710					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGCTCCAATTCCTTGTGAAGT	0.438000			"""N, S, F"""		hepatocellular carcinoma									67			56		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54095636	54095637	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:54095636_54095637CC>TT	uc011dxa.2	+	11	2876_2877	c.2843_2844CC>TT	c.(2842-2844)ccc>cTT	p.P948L	MLIP_uc003pcg.4_Missense_Mutation_p.P413L|MLIP_uc003pch.4_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	413						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GCCCCAGGACCCTTCAGTCATC	0.500000														179			57		0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12878872	12878872	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:12878872G>A	uc002muy.2	-	11	1341	c.1170C>T	c.(1168-1170)tgC>tgT	p.C390C	HOOK2_uc002muz.2_Silent_p.C390C	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	390	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCAGGTTGCGGCATTCAAATA	0.577000														167			38		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136315041	136315041	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:136315041G>A	uc004cdv.4	+	22	3443	c.2999G>A	c.(2998-3000)cGc>cAc	p.R1000H	ADAMTS13_uc004cdp.4_Missense_Mutation_p.R227H|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R1000H|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R969H|ADAMTS13_uc004cdw.4_Missense_Mutation_p.R1000H|ADAMTS13_uc004cdx.4_Missense_Mutation_p.R969H|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Missense_Mutation_p.R670H	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1000	TSP type-1 6.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGGCTGCCTCGCCCGGAACCC	0.677000														29			7		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21151665	21151665	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:21151665C>T	uc001bec.3	-	27	4384	c.4128G>A	c.(4126-4128)tgG>tgA	p.W1376*	EIF4G3_uc010odi.2_Nonsense_Mutation_p.W980*|EIF4G3_uc010odj.2_Nonsense_Mutation_p.W1375*|EIF4G3_uc009vpz.3_Nonsense_Mutation_p.W1096*|EIF4G3_uc001bef.3_Nonsense_Mutation_p.W1412*|EIF4G3_uc001bee.3_Nonsense_Mutation_p.W1382*	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1376					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGCCTCCCTCCATAAGGCTC	0.363000														25			10		0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220953377	220953377	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:220953377C>T	uc001hmq.3	+	4	966	c.768C>T	c.(766-768)ctC>ctT	p.L256L	MARC2_uc001hmr.3_Silent_p.L256L|MARC2_uc009xdx.3_Intron	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 2 (MARC2), nuclear gene encoding mitochondrial protein, mRNA.	256	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										GGGATGAACTCCTAATTGGTA	0.418000														32			27		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547787	43547787	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:43547787C>T	uc002zag.1	+	18	3920	c.3920C>T	c.(3919-3921)cCt>cTt	p.P1307L	UMODL1_uc002zad.1_Missense_Mutation_p.P1107L|UMODL1_uc002zae.1_Missense_Mutation_p.P1235L|UMODL1_uc002zaf.1_Missense_Mutation_p.P1179L|UMODL1_uc002zal.1_Missense_Mutation_p.P129L|UMODL1_uc010gpa.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1179						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTCAGCTGCCCTGTGCCCAAC	0.502000														18			11		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28971154	28971154	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:28971154C>T	uc002kwr.2	+	6	933	c.798C>T	c.(796-798)ttC>ttT	p.F266F	DSG4_uc002kwq.2_Silent_p.F266F	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	266	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACGATAATTTCCCCACCTTAG	0.393000														37			22		0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32143022	32143022	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:32143022A>G	uc001ivz.1	-	4	1331	c.1061T>C	c.(1060-1062)tTa>tCa	p.L354S	ARHGAP12_uc001ivy.1_Intron|ARHGAP12_uc009xls.2_Intron|ARHGAP12_uc001iwb.1_Missense_Mutation_p.L352S|ARHGAP12_uc001iwc.1_Missense_Mutation_p.L352S|ARHGAP12_uc009xlq.1_Intron|ARHGAP12_uc009xlr.1_Missense_Mutation_p.L352S	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	354					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				ACTGGTATATAAGGTATGCCC	0.388000														36			22		0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5857877	5857877	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:5857877C>T	uc003gis.3	-	3	902	c.813G>A	c.(811-813)caG>caA	p.Q271Q	CRMP1_uc003giq.3_Silent_p.Q157Q|CRMP1_uc003gir.3_Silent_p.Q152Q	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	157					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GACCTTTGTCCTGCACCAGCA	0.517000														54			10		0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70189094	70189094	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:70189094G>A	uc001svp.3	+	5	1353	c.906G>A	c.(904-906)gtG>gtA	p.V302V	RAB3IP_uc021rao.1_Silent_p.V286V|RAB3IP_uc001svm.3_Silent_p.V286V|RAB3IP_uc001svn.3_Silent_p.V286V|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Silent_p.V302V|RAB3IP_uc001svs.3_Non-coding_Transcript|RAB3IP_uc001svt.3_Silent_p.V80V	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	302					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACCTCAGTGTGATACAGCCAA	0.443000														14			10		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163253327	163253327	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:163253327C>T	uc002uch.2	-	10	2765	c.2536G>A	c.(2536-2538)Gat>Aat	p.D846N		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	846					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GGATACATATCCAAAACCTCT	0.388000														30			14		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475313	140475313	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140475313C>T	uc003lil.3	+	0	1077	c.939C>T	c.(937-939)tcC>tcT	p.S313S	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	313	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTCGAATCCATCCAGACAT	0.418000														65			23		0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50235109	50235109	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:50235109G>A	uc001vdg.3	-	3	679	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	206					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		AAAGTTCACTGAAACTTCTTC	0.388000														44			23		0	0	1	0	0
LMO2	4005	broad.mit.edu	37	11	33886334	33886334	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:33886334G>A	uc001mve.3	-	1	510	c.71C>T	c.(70-72)cCc>cTc	p.P24L	LMO2_uc001mvc.3_Missense_Mutation_p.P17L|LMO2_uc001mvd.3_Missense_Mutation_p.P17L|LMO2_uc010rel.2_Missense_Mutation_p.P24L|LMO2_uc010rem.2_Missense_Mutation_p.P93L	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	Homo sapiens LIM domain only 2 (rhombotin-like 1) (LMO2), transcript variant 3, mRNA.	24					multicellular organismal development	nucleus	protein binding|zinc ion binding	p.P24P(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						CAGGGATGGGGGGATCTGCAG	0.612000			T	TRD@	T-ALL									51			15		0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27225028	27225029	+	Silent	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:27225028_27225029CC>TT	uc010vcn.1	+	2	853_854	c.735_736CC>TT	c.(733-738)atcctg>atTTtg	p.245_246IL>IL	KDM8_uc002doh.2_Silent_p.207_208IL>IL|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_5'Flank	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN	Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.	207					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										GGCCCGTGATCCTGAAAGGCGT	0.579000														18			14		0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104719121	104719121	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:104719121C>G	uc021rcx.1	+	10	1244	c.1222C>G	c.(1222-1224)Caa>Gaa	p.Q408E	TXNRD1_uc021rcy.1_Missense_Mutation_p.Q310E|TXNRD1_uc021rcz.1_Missense_Mutation_p.Q258E|TXNRD1_uc021rda.1_Missense_Mutation_p.Q258E|TXNRD1_uc021rdb.1_Missense_Mutation_p.Q258E|TXNRD1_uc010swp.2_Missense_Mutation_p.Q220E|TXNRD1_uc010swq.2_Missense_Mutation_p.Q308E|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.Q324E	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	408					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						ACAGGTTGAACAAATTGAAGC	0.403000														9			11		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97658765	97658765	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:97658765C>T	uc001drv.3	-	19	2619	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	828					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CAGTAGTCTTCGATCACAGTG	0.438000														24			22		0	0	1	0	0
FBXO25	26260	broad.mit.edu	37	8	385683	385683	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:385683C>T	uc003wox.3	+	4	623	c.357C>T	c.(355-357)atC>atT	p.I119I	FBXO25_uc003woy.3_Silent_p.I119I|FBXO25_uc003woz.3_Silent_p.I52I|FBXO25_uc003wpa.3_5'UTR	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	Homo sapiens F-box protein 25 (FBXO25), transcript variant 1, mRNA.	119						SCF ubiquitin ligase complex|nucleus	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TTCAAGATATCCGAAGGTTCA	0.358000														33			13		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14939016	14939016	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:14939016G>A	uc003bzc.3	+	5	2859	c.2749_splice	c.e5-1	p.D917_splice	FGD5_uc011avk.2_Splice_Site_p.D917_splice|FGD5_uc003bzd.3_Splice_Site	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	917	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGTGTTTCAGGATTTCCATGG	0.562000														6			4		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153042	5153042	+	Silent	SNP	G	A	A	rs144490949		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5153042G>A	uc010qyx.2	-	0	831	c.831C>T	c.(829-831)atC>atT	p.I277I		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I277I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTGACAAGAGGATATGAATAT	0.403000														67			23		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095498	130095498	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:130095498G>A	uc010htj.1	+	2	980	c.486G>A	c.(484-486)gtG>gtA	p.V162V	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	162	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAGACGGGGTGAAAATTATCT	0.507000														11			5		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241031932	241031932	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:241031932G>A	uc001hyt.2	-	1	114	c.60C>T	c.(58-60)atC>atT	p.I20I	RGS7_uc010pyh.2_Silent_p.I162I|RGS7_uc010pyj.1_Silent_p.I104I|RGS7_uc001hyu.2_Silent_p.I188I|RGS7_uc009xgn.1_Silent_p.I135I|RGS7_uc001hyv.2_Silent_p.I188I|RGS7_uc001hyw.2_Silent_p.I188I	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	188					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGCTGTCAAGGATCTTCCTTT	0.463000														56			17		0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966231	2966231	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:2966231G>A	uc021tns.1	-	0	671	c.671C>T	c.(670-672)aCc>aTc	p.T224I		NM_014566	NP_055381	P58170	OR1D5_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						TTGAAGGATGGTTCTGACAAT	0.488000														53			7		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104192063	104192063	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:104192063C>T	uc004bbk.2	-	2	380	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	100					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	p.K99K(1)		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)				ATCCCCTTTTCCTTGAGGATG	0.532000														191			52		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089737	9089737	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9089737C>T	uc002mkp.3	-	0	2282	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	693	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						CAGGCTGGTTCCTTCCCTGAA	0.502000														34			47		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155510618	155510618	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:155510618C>A	uc003iod.1	-	1	209	c.151G>T	c.(151-153)Gac>Tac	p.D51Y	FGA_uc003ioe.1_Missense_Mutation_p.D51Y|FGA_uc003iof.1_Missense_Mutation_p.D51Y	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	51					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AAGGGCCAGTCTGAATCTTTG	0.537000														55			49		4.01344e-20	4.07063e-20	1	1	0
WBSCR17	64409	broad.mit.edu	37	7	70885994	70885994	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:70885994G>A	uc003tvy.3	+	4	865	c.865G>A	c.(865-867)Gag>Aag	p.E289K	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	289						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E289K(2)|p.E289G(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCAGCGGTACGAGAACTCGGC	0.587000														59			52		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80504233	80504233	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:80504233G>A	uc003kha.2	+	21	3182	c.3132G>A	c.(3130-3132)atG>atA	p.M1044I	RNU5E-1_uc011cto.1_Intron|RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	1044	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTTACATTATGAAAACCAGCC	0.408000														23			7		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45815365	45815365	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:45815365C>T	uc010gpt.1	+	11	1963	c.1863C>T	c.(1861-1863)ccC>ccT	p.P621P	TRPM2_uc002zet.1_Silent_p.P621P|TRPM2_uc002zeu.1_Silent_p.P621P|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.P621P|TRPM2_uc002zex.1_Silent_p.P407P|TRPM2_uc002zey.1_Silent_p.P134P	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	621						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCATGGACCCCATCCGTGACC	0.577000														101			47		0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42937402	42937402	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:42937402G>A	uc002ihn.2	-	17	1992	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	EFTUD2_uc010wje.1_Silent_p.F542F|EFTUD2_uc010wjf.1_Silent_p.F567F	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	577						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TCAAGGGTCGGAAAATCTGAG	0.502000														27			35		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172439	207172439	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:207172439G>A	uc002vbp.2	+	4	3437	c.3187G>A	c.(3187-3189)Gaa>Aaa	p.E1063K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1063							nucleic acid binding|zinc ion binding	p.E1063*(3)|p.E1063K(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTTTTGAAGGAAAAACATGT	0.323000														24			22		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900875	51900875	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:51900875G>A	uc002iua.2	+	0	637	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	161					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAGCAGCGGGAAAAGCGCAG	0.547000														82			43		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065415	35065415	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:35065415C>T	uc003jjm.3	-	9	2204	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.V448M|PRLR_uc021xxl.1_3'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	549					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.V549V(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACCCCGGACACCTTGGCATAC	0.498000														40			30		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40363045	40363045	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:40363045C>T	uc002omp.4	-	31	15033	c.15025G>A	c.(15025-15027)Gag>Aag	p.E5009K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5009	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGAAGGTCTCCACACTGGAC	0.662000														16			5		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120497716	120497716	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:120497716G>C	uc001eik.3	-	12	2463	c.2166C>G	c.(2164-2166)aaC>aaG	p.N722K	NOTCH2_uc001eil.3_Missense_Mutation_p.N722K|NOTCH2_uc021osy.1_Missense_Mutation_p.N683K|NOTCH2_uc001eim.4_Missense_Mutation_p.N639K	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	722	EGF-like 19.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.V721L(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGGCATTCGTTCACCTGTG	0.522000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					430			345		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537037	5537037	+	Missense_Mutation	SNP	G	A	A	rs147073799		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5537037G>A	uc001maz.4	-	0	920	c.635C>T	c.(634-636)tCc>tTc	p.S212F	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	212								p.S212T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AAGAAGGCGGGAAACTTCTGG	0.468000														115			139		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20048166	20048166	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:20048166C>T	uc001umd.3	-	6	491	c.280G>A	c.(280-282)Gac>Aac	p.D94N	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Missense_Mutation_p.D57N|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	94						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAATTAGGTCGGCAAGGAGG	0.299000														60			29		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370121	86370121	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:86370121G>A	uc001vll.1	-	1	982	c.523C>T	c.(523-525)Ctt>Ttt	p.L175F	SLITRK6_uc021rla.1_Missense_Mutation_p.L175F	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	175						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTGGAGGAAGACTCTCAATA	0.368000														77			41		0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884912	117884912	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:117884912C>G	uc001lcj.3	-	5	1288	c.590G>C	c.(589-591)cGg>cCg	p.R197P	GFRA1_uc001lci.3_Missense_Mutation_p.R192P|GFRA1_uc009xyr.3_Missense_Mutation_p.R192P	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	197					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AAAGAACTGCCGGAGGGCCTT	0.607000														33			9		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54780704	54780704	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:54780704G>A	uc002qfb.3	-	9	1706	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.F480F|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.F479F|LILRB2_uc010yet.2_Silent_p.F364F	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	480					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggaggatgaggaagaggagga	0.617000														58			43		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21216882	21216882	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:21216882C>T	uc010bwn.1	-	6	751	c.669G>A	c.(667-669)tgG>tgA	p.W223*	ZP2_uc002dii.2_Nonsense_Mutation_p.W184*|ZP2_uc010bwo.3_Nonsense_Mutation_p.W223*	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	184					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCTCAATGCTCCATCCCATCT	0.483000														58			29		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338243	28338243	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:28338243G>A	uc002ymg.3	-	0	1197	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	156					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.F156F(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTTGACCGCGAAGAAGCCGT	0.662000														19			16		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36293091	36293091	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:36293091C>T	uc003oly.3	-	5	1315	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	379										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GCGGAAGCTCCTCTCCAGGTT	0.562000														59			28		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111794183	111794183	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:111794183C>T	uc010hqb.2	+	12	1591	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	TMPRSS7_uc011bhr.1_Missense_Mutation_p.S329F	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	600	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGCAGGAGTTCCTCCGCCCTT	0.547000														88			50		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40395962	40395962	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:40395962G>A	uc002omp.4	-	14	7443	c.7435C>T	c.(7435-7437)Ctg>Ttg	p.L2479L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2479	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCTGAGCCAGCACATACACG	0.647000														61			34		0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94543483	94543483	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:94543483T>A	uc001tdc.3	+	0	985	c.736T>A	c.(736-738)Ttc>Atc	p.F246I		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	246	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAGCATCTACTTCCCCTACTA	0.687000														15			8		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123427623	123427623	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:123427623C>T	uc003ego.3	-	14	2344	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	MYLK_uc011bjw.2_Missense_Mutation_p.E688K|MYLK_uc003egp.3_Missense_Mutation_p.E619K|MYLK_uc003egq.3_Missense_Mutation_p.E688K|MYLK_uc003egr.3_Missense_Mutation_p.E619K|MYLK_uc003egs.3_Missense_Mutation_p.E512K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	688	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCGTGTCCTCCGGGAACACT	0.582000														74			54		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659821	121659821	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:121659821G>A	uc003eep.2	+	21	2310	c.2157G>A	c.(2155-2157)atG>atA	p.M719I	SLC15A2_uc011bjn.1_Missense_Mutation_p.M688I	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	719					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)	AGGGGAACATGATCAAACTAG	0.458000														34			16		0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62489078	62489078	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:62489078A>T	uc002jei.3	-	1	721	c.623T>A	c.(622-624)cTt>cAt	p.L208H	POLG2_uc021ubq.1_5'Flank|POLG2_uc010deg.2_Missense_Mutation_p.L208H	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	208					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AATCTGAGCAAGGCCATAAGG	0.378000														43			16		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171240224	171240224	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:171240224C>T	uc002ufy.3	+	11	1333	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	MYO3B_uc002ufv.3_Missense_Mutation_p.S384F|MYO3B_uc010fqb.1_Missense_Mutation_p.S397F|MYO3B_uc002ufz.3_Missense_Mutation_p.S397F|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	397	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity	p.S397_A406del(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTTCAGTTTTCCAGACTTTAT	0.448000														47			4		0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127828159	127828159	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:127828159G>A	uc002tns.2	-	3	669	c.285C>T	c.(283-285)ccC>ccT	p.P95P	BIN1_uc010yzf.2_Silent_p.P71P|BIN1_uc002tnt.2_Silent_p.P95P|BIN1_uc010yzg.2_Silent_p.P95P|BIN1_uc002tnu.2_Silent_p.P95P|BIN1_uc002tnv.2_Silent_p.P95P|BIN1_uc002tnw.2_Silent_p.P95P|BIN1_uc002tnx.2_Silent_p.P95P|BIN1_uc002tny.2_Silent_p.P95P|BIN1_uc002tnz.2_Silent_p.P95P|BIN1_uc002toa.2_Silent_p.P95P|BIN1_uc002tob.2_Silent_p.P95P|BIN1_uc002toc.2_Silent_p.P95P	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	95	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CATCCCTGCCGGGCCAATCGG	0.602000														109			33		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542686	28542686	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:28542686C>T	uc003nlo.3	-	2	2414	c.1796G>A	c.(1795-1797)aGa>aAa	p.R599K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	599					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GGATAAAAATCTTAGTCTGCT	0.388000														28			9		0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146778731	146778731	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:146778731C>T	uc003loo.3	-	10	1735	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	DPYSL3_uc003lon.1_Missense_Mutation_p.G399R	NM_001197294	NP_001184223	Q14195	DPYL3_HUMAN	Homo sapiens dihydropyrimidinase-like 3 (DPYSL3), transcript variant 1, mRNA.	399					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATTCTTCCCTTGCGGGGA	0.502000														86			65		0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148627398	148627398	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:148627398G>A	uc003lpy.2	+	17	1856	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S	ABLIM3_uc003lpz.1_Silent_p.S535S|ABLIM3_uc003lqa.1_Silent_p.S432S|ABLIM3_uc003lqb.3_Silent_p.S424S|ABLIM3_uc003lqc.1_Silent_p.S502S|ABLIM3_uc003lqd.1_Silent_p.S440S|ABLIM3_uc003lqe.1_Silent_p.S424S|ABLIM3_uc003lqf.3_Silent_p.S424S	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	535					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCCGGTCGAGCTCCTATG	0.557000														40			30		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229058	21229058	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:21229058G>A	uc002red.3	-	25	10810	c.10682C>T	c.(10681-10683)tCc>tTc	p.S3561F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3561					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCCAGAGGGAATATATGCG	0.458000														493			139		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121474942	121474942	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:121474942G>T	uc001pxx.3	+	32	4689	c.4560G>T	c.(4558-4560)caG>caT	p.Q1520H	SORL1_uc010rzp.1_Missense_Mutation_p.Q366H|SORL1_uc010rzq.1_Missense_Mutation_p.Q135H	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1520	LDL-receptor class A 11.				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)		GGGAGTTCCAGTGCGAGGACG	0.602000														49			51		5.12918e-33	5.21288e-33	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	14018774	14018774	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:14018774G>A	uc001rbt.2	-	1	548	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	123					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGATGCCCAGGATGGGGGTGA	0.552000														74			50		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28575207	28575207	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:28575207C>T	uc003xgz.1	+	2	2224	c.1631C>T	c.(1630-1632)cCc>cTc	p.P544L		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	544						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCAGCCGCTCCCATCCGGGAA	0.587000														47			20		0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39881398	39881398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:39881398C>T	uc003guv.4	-	17	2482	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	648					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTACACCCTCCTCTTCATCA	0.363000														36			27		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247876010	247876010	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:247876010G>A	uc001idj.1	-	0	48	c.48C>T	c.(46-48)ggC>ggT	p.G16G		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AACCAGGAAAGCCCAGTAAGA	0.458000														92			25		0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008524	88008524	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:88008524G>A	uc022bzq.1	+	0	109	c.109G>A	c.(109-111)Gat>Aat	p.D37N	CPXCR1_uc004efd.4_Missense_Mutation_p.D37N|CPXCR1_uc004efc.4_Missense_Mutation_p.D37N	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	37						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCCATCTGCTGATCCCAATAT	0.438000														7			11		0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11367399	11367399	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:11367399G>A	uc002rbd.1	-	5	1298	c.849C>T	c.(847-849)ttC>ttT	p.F283F		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	283	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTCATAAAGGAAAACACCTA	0.353000														107			28		0	0	1	0	0
PCP4L1	654790	broad.mit.edu	37	1	161254237	161254237	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:161254237G>A	uc001gad.3	+	2	421	c.173G>A	c.(172-174)cGa>cAa	p.R58Q		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.	58	IQ.									endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAGTTCCGGCGATTTCAGAAA	0.532000														16			10		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245943	166245943	+	Missense_Mutation	SNP	G	A	A	rs35761080		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:166245943G>A	uc002udc.3	+	26	5917	c.5627G>A	c.(5626-5628)cGa>cAa	p.R1876Q	SCN2A_uc002udd.3_Missense_Mutation_p.R1876Q|SCN2A_uc002ude.3_Missense_Mutation_p.R1876Q|SCN2A_uc021vry.1_Missense_Mutation_p.R376Q	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1876					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)	GATGCCCTTCGAATACAGATG	0.483000														34			26		0	0	1	0	0
CSRP3	8048	broad.mit.edu	37	11	19206523	19206523	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:19206523T>A	uc001mpk.2	-	4	601	c.484A>T	c.(484-486)Aaa>Taa	p.K162*		NM_003476	NP_003467	P50461	CSRP3_HUMAN	Homo sapiens cysteine and glycine-rich protein 3 (cardiac LIM protein) (CSRP3), transcript variant 1, mRNA.	162	LIM zinc-binding 2.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						TCCCCATCTTTGTCAGTGACA	0.453000														65			35		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233482	168233482	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:168233482G>A	uc010jjg.3	-	8	1324	c.904C>T	c.(904-906)Cct>Tct	p.P302S	SLIT3_uc003mab.3_Missense_Mutation_p.P302S|SLIT3_uc010jji.2_Missense_Mutation_p.P302S|SLIT3_uc003mac.1_Missense_Mutation_p.P99S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	302	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTTGGCAGGAATCTCCATC	0.577000														49			31		0	0	1	0	0
C9orf47	286223	broad.mit.edu	37	9	91605918	91605918	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:91605918G>A	uc004aqd.3	+	0	141	c.8G>A	c.(7-9)aGg>aAg	p.R3K	S1PR3_uc004aqe.3_5'Flank|C9orf47_uc004aqc.2_Missense_Mutation_p.R3K	NM_001001938	NP_001001938	Q6ZRZ4	CI047_HUMAN	Homo sapiens chromosome 9 open reading frame 47 (C9orf47), transcript variant 1, mRNA.	3						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						GAAATGGTCAGGATCTGGACA	0.562000														11			6		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45294229	45294229	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:45294229G>A	uc010olf.2	-	11	1551	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	PTCH2_uc021omv.1_Silent_p.F513F|PTCH2_uc010olg.2_Silent_p.F211F	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	513	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CAGCCATGAGGAAGGCGGCCA	0.657000									Basal Cell Nevus syndrome					19			7		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390790	197390790	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:197390790C>T	uc001gtz.3	+	5	2041	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	CRB1_uc010poz.2_Missense_Mutation_p.S542F|CRB1_uc009wza.3_Missense_Mutation_p.S499F|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.S611F|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.S92F|CRB1_uc001gub.1_Missense_Mutation_p.S260F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	611	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTTCAGAACTCCTTTTTGGGT	0.443000														45			49		0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8200492	8200492	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:8200492C>T	uc001qtu.3	+	6	1917	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L	FOXJ2_uc001qtt.1_Silent_p.L278L	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	278					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TTCTTCTCTCCTGGGGGACAT	0.552000														56			31		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37315973	37315973	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:37315973C>T	uc001caz.2	-	8	1400	c.1265G>A	c.(1264-1266)gGc>gAc	p.G422D	GRIK3_uc001cba.1_Missense_Mutation_p.G422D	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	422					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGGGCCTCGGCCTTTGGCAAC	0.577000														75			23		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806844	2806844	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:2806844C>T	uc022aqr.1	-	67	10769	c.10379G>A	c.(10378-10380)gGa>gAa	p.G3460E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2775E|CSMD1_uc010lrg.3_Missense_Mutation_p.G1352E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3461						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTAAATTTTCCAAAGTCTTT	0.328000														35			18		0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34113478	34113478	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:34113478C>T	uc001mvh.1	+	14	1769	c.1580C>T	c.(1579-1581)cCt>cTt	p.P527L	CAPRIN1_uc001mvg.3_Missense_Mutation_p.P527L|CAPRIN1_uc001mvi.2_Missense_Mutation_p.P527L|CAPRIN1_uc001mvj.1_Missense_Mutation_p.P446L	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA.	527					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	RNA binding|protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GCCCCAGTTCCTCCTGTTAAT	0.378000														27			29		0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165513898	165513898	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:165513898C>T	uc001gde.2	+	0	421	c.365C>T	c.(364-366)tCg>tTg	p.S122L	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	122						integral to membrane		p.F121L(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTCACTTTCTCGGTGCTCAGC	0.493000														90			85		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87031693	87031693	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:87031693G>A	uc009wcs.3	+	5	988	c.944G>A	c.(943-945)gGa>gAa	p.G315E	CLCA4_uc009wct.3_Missense_Mutation_p.G78E|CLCA4_uc009wcu.3_Missense_Mutation_p.G135E	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	315	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GATAAGTCTGGAAGCATGGGG	0.413000														53			16		0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22138965	22138965	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:22138965G>T	uc003xbn.2	+	3	510	c.362G>T	c.(361-363)tGg>tTg	p.W121L	PIWIL2_uc011kzf.1_Missense_Mutation_p.W121L|PIWIL2_uc010ltv.2_Missense_Mutation_p.W121L	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	121					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCCACTTTTTGGGATCCAAAA	0.507000														115			32		2.46105e-21	2.49739e-21	1	1	0
TAF7L	54457	broad.mit.edu	37	X	100532675	100532675	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:100532675C>T	uc004ehb.3	-	8	894	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	TAF7L_uc004eha.3_Missense_Mutation_p.E204K|TAF7L_uc004ehc.2_Missense_Mutation_p.E204K	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	290					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTTTCTATTTCCTTGGTTCCA	0.468000														22			82		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357943	38357943	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:38357943C>T	uc003cib.2	+	8	1734	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	SLC22A14_uc010hhc.1_Missense_Mutation_p.S554F|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	554						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GTGGCCTTTTCCCTCTCCTCC	0.612000														31			23		0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152640637	152640637	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:152640637G>A	uc003iml.3	-	2	422	c.381C>T	c.(379-381)aaC>aaT	p.N127N	PET112_uc003imm.4_Silent_p.N127N	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	127						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTATGTGGCAGTTCAGAGCCA	0.502000														67			26		0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40704299	40704299	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:40704299C>T	uc001cfc.4	+	7	3956	c.3925C>T	c.(3925-3927)Cca>Tca	p.P1309S	RLF_uc001cfd.4_Missense_Mutation_p.P1000S	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1309					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATACCACAAACCATTCCATTG	0.383000														19			8		0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149026	142149026	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:142149026C>T	uc010lnw.1	-	1	327	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGCTGAGAATCGATCAGGGAA	0.517000														77			20		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068457	189068457	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:189068457C>T	uc003izm.1	+	5	1453	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	TRIML1_uc003izn.1_Silent_p.S170S	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	446	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.F445I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CTATCTTTTCCCCCTGCCTCC	0.562000														74			24		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344949	20344949	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20344949G>A	uc001vwh.1	+	0	523	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGAGGTAGACAGCTTTTT	0.458000														531			50		0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22212892	22212892	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:22212892G>A	uc003xbn.2	+	22	2944	c.2796G>A	c.(2794-2796)tgG>tgA	p.W932*	PIWIL2_uc011kzf.1_Nonsense_Mutation_p.W896*|PIWIL2_uc010ltv.2_Nonsense_Mutation_p.W932*|PIWIL2_uc003xbo.2_Nonsense_Mutation_p.W86*	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	932	Piwi.				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.W932L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ACATGTACTGGAATTGGCCTG	0.468000														44			26		0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178941890	178941890	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:178941890G>A	uc003fjk.3	+	14	2366	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	737					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTTTTTAGTTGAGCAAATGAG	0.388000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				40			24		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18800921	18800921	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:18800921G>A	uc001rdt.3	+	31	4413	c.4297G>A	c.(4297-4299)Gat>Aat	p.D1433N	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.D1474N|PIK3C2G_uc010sic.2_Missense_Mutation_p.D1252N	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1433					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGTCCCACTCGATAAAGAAAA	0.358000														23			11		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870346	51870346	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:51870346G>A	uc002xwo.3	+	1	1236	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	TSHZ2_uc021wex.1_Missense_Mutation_p.E114K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	117					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E117K(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTTCCAAACGAAGCACACAA	0.527000														36			25		0	0	1	0	0
C1orf210	149466	broad.mit.edu	37	1	43748622	43748622	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:43748622C>T	uc001cit.4	-	2	410	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	C1orf210_uc021omn.1_Missense_Mutation_p.R59Q	NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA.	59						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCATGGTATCGGCGGCAGAG	0.622000														53			12		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680314	95680314	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:95680314G>A	uc003ygq.4	+	9	1252	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	ESRP1_uc003ygr.4_Missense_Mutation_p.E357K|ESRP1_uc003ygs.4_Missense_Mutation_p.E357K|ESRP1_uc003ygt.4_Missense_Mutation_p.E357K|ESRP1_uc003ygu.4_Missense_Mutation_p.E357K|ESRP1_uc003ygv.3_Missense_Mutation_p.E197K|ESRP1_uc003ygw.3_Missense_Mutation_p.E197K	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	357	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGGGGAAAGGAAGGCATCCT	0.527000														350			182		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718592	103718592	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:103718592T>A	uc001vpy.4	-	0	605	c.8A>T	c.(7-9)gAt>gTt	p.D3V		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	3					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCTGTTCGGATCATTCATTGC	0.512000														62			30		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366917	248366917	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248366917C>T	uc010pzg.2	+	0	548	c.548C>T	c.(547-549)tCc>tTc	p.S183F		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GACTTCCCCTCCCTACTAATC	0.413000														119			78		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68165840	68165840	+	Silent	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:68165840T>C	uc003xxo.2	-	17	2934	c.2544A>G	c.(2542-2544)acA>acG	p.T848T	ARFGEF1_uc003xxl.1_Silent_p.T302T	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	848					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATTGTTCCTTTGTCATTTTAT	0.279000														7			7		0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3193344	3193344	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:3193344C>T	uc002lxi.3	+	2	592	c.438C>T	c.(436-438)gcC>gcT	p.A146A	NCLN_uc002lxh.1_Non-coding_Transcript	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	Homo sapiens nicalin (NCLN), mRNA.	146					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTACTTTGCCGTGGAGGACG	0.637000														45			5		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9497554	9497554	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:9497554G>A	uc010coc.3	+	4	711	c.482G>A	c.(481-483)aGc>aAc	p.S161N	WDR16_uc002gly.3_Missense_Mutation_p.S151N|WDR16_uc002glz.3_Missense_Mutation_p.S83N			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	151						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATCTGTGGCAGCCCTGCAGCC	0.478000														86			14		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46629749	46629749	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:46629749C>T	uc002inn.3	-	0	488	c.88G>A	c.(88-90)Gat>Aat	p.D30N	HOXB3_uc010wlm.2_Intron|HOXB3_uc010dbf.3_Missense_Mutation_p.D30N|HOXB3_uc010dbg.3_Missense_Mutation_p.D30N|HOXB3_uc002ino.3_Missense_Mutation_p.D30N|HOXB3_uc010wlk.2_Intron|HOXB3_uc010wll.2_Intron	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	30					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGGGGGACATCGAAGCCGAAG	0.647000														41			32		0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132198244	132198244	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:132198244G>A	uc003kxz.1	-	1	654	c.402C>T	c.(400-402)atC>atT	p.I134I	GDF9_uc011cxj.1_Silent_p.I46I	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	134					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGATGGAAGGATTCCTAAGA	0.373000														24			16		0	0	1	0	0
CNOT8	9337	broad.mit.edu	37	5	154254880	154254880	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:154254880A>T	uc003lvu.3	+	7	1239	c.760A>T	c.(760-762)Aag>Tag	p.K254*	CNOT8_uc011ddf.2_Nonsense_Mutation_p.K148*|CNOT8_uc011ddg.2_Nonsense_Mutation_p.K148*|CNOT8_uc011ddh.2_Nonsense_Mutation_p.K90*|CNOT8_uc003lvv.3_Nonsense_Mutation_p.K254*|CNOT8_uc010jig.3_Nonsense_Mutation_p.K148*|CNOT8_uc010jif.3_Nonsense_Mutation_p.K148*|CNOT8_uc003lvw.3_Nonsense_Mutation_p.K254*|CNOT8_uc011ddi.2_Nonsense_Mutation_p.K148*|CNOT8_uc011ddj.2_Nonsense_Mutation_p.K200*	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 8 (CNOT8), mRNA.	254					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGATGATGCCAAGTACTGTGG	0.468000														61			19		0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47701578	47701578	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:47701578C>T	uc001ngg.3	-	12	2265	c.1963G>A	c.(1963-1965)Ggt>Agt	p.G655S	AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Missense_Mutation_p.G617S|AGBL2_uc001ngh.1_Missense_Mutation_p.G599S	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	655					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACATGATAACCTAAGGACTTC	0.403000														43			13		0	0	1	0	0
HIAT1	64645	broad.mit.edu	37	1	100535202	100535202	+	Silent	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:100535202G>T	uc001dst.3	+	7	852	c.852G>T	c.(850-852)gcG>gcT	p.A284A		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	Homo sapiens hippocampus abundant transcript 1 (HIAT1), mRNA.	284					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GTGTTGCAGCGTTTATAGCAG	0.398000														72			21		3.6726e-16	3.71737e-16	1	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54936461	54936461	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:54936461C>T	uc001sgc.4	+	30	3455	c.3376C>T	c.(3376-3378)Cta>Tta	p.L1126L	NCKAP1L_uc010sox.2_Silent_p.L668L|NCKAP1L_uc010soy.2_Silent_p.L1076L	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	1126					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GGCCTTCCACCTAAACTGAAT	0.552000														45			36		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238290072	238290072	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:238290072G>A	uc002vwl.2	-	4	1668	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	COL6A3_uc002vwo.2_Silent_p.F255F|COL6A3_uc010znj.1_Silent_p.F54F|COL6A3_uc002vwq.3_Silent_p.F255F|COL6A3_uc002vwr.3_Silent_p.F54F|COL6A3_uc010znk.1_Silent_p.F461F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	461	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGATGGCATTGAAGTTGGCCA	0.493000														23			15		0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5924434	5924434	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:5924434G>A	uc001alq.2	-	27	4228	c.3960C>T	c.(3958-3960)ctC>ctT	p.L1320L	MIR4689_uc021ofn.1_5'Flank|NPHP4_uc001alr.1_3'UTR	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	1320					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGCACACGAGCCAGGAGG	0.642000														15			3		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43464662	43464662	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:43464662C>T	uc002lbm.3	-	29	5324	c.5224G>A	c.(5224-5226)Gag>Aag	p.E1742K	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.E296K|EPG5_uc002lbn.2_Missense_Mutation_p.E617K	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1742					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGTATGAACTCTGCAGGTGCA	0.433000														43			14		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216253	20216253	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20216253C>T	uc010tkt.2	+	0	667	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L223L(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCTATCATCCTGATCACCCT	0.507000														105			10		0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143079411	143079411	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:143079411C>T	uc003wcx.3	+	2	437	c.279C>T	c.(277-279)ttC>ttT	p.F93F	ZYX_uc011ktd.2_5'UTR|ZYX_uc003wcw.3_Silent_p.F93F|ZYX_uc011kte.2_Silent_p.F93F|ZYX_uc011ktf.2_5'UTR	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	93					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GAGGTGCCTTCCCGCCGCCCC	0.677000														19			16		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34238193	34238193	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:34238193G>A	uc001bxm.1	-	12	2000	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	CSMD2_uc001bxn.1_Missense_Mutation_p.S568L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	568	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTCTTAGCCGACCATTGGTT	0.577000														87			20		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46125833	46125833	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:46125833C>T	uc003gxb.3	-	0	250	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	33					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCACCAGTTTCCCAAATGCAG	0.408000														28			25		0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73669387	73669387	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:73669387C>T	uc001ouo.3	+	1	845	c.94C>T	c.(94-96)Cac>Tac	p.H32Y		NM_153614	NP_705842	P59910	DJB13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 13 (DNAJB13), mRNA.	32	J.				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CCTTAAGCACCACCCGTTGAA	0.537000														52			10		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949200	27949200	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:27949200C>T	uc003zqv.1	-	6	2120	c.1470G>A	c.(1468-1470)ggG>ggA	p.G490G	LINGO2_uc010mjf.1_Silent_p.G490G|LINGO2_uc003zqu.1_Silent_p.G490G|LINGO2_uc022bfc.1_Silent_p.G490G	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	490	Ig-like C2-type.					integral to membrane		p.A489A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGTATCATTCCCAGCAGCAT	0.493000														13			19		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19753556	19753556	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:19753556T>G	uc009zzj.3	-	1	256	c.151A>C	c.(151-153)Acg>Ccg	p.T51P		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	51					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGAAGAACGTGTTGAAGGAG	0.562000														82			35		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160824138	160824138	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:160824138C>T	uc002ube.2	-	19	3028	c.2816G>A	c.(2815-2817)cGa>cAa	p.R939Q	PLA2R1_uc010zcp.2_Missense_Mutation_p.R939Q|PLA2R1_uc002ubf.3_Missense_Mutation_p.R939Q	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	939					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.K938R(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AACCTTTTTTCGCTTACAGAT	0.393000														43			31		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36884144	36884144	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:36884144C>T	uc003cgj.3	-	16	5365	c.5117G>A	c.(5116-5118)gGa>gAa	p.G1706E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1706					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTAGTAATCTCCCTGTGCAAT	0.498000														29			13		0	0	1	0	0
IL15	3600	broad.mit.edu	37	4	142649124	142649124	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:142649124A>T	uc003iis.3	+	5	601	c.227A>T	c.(226-228)gAa>gTa	p.E76V	IL15_uc010iol.3_Missense_Mutation_p.E49V|IL15_uc003iit.3_Missense_Mutation_p.E76V	NM_000585	NP_000576	P40933	IL15_HUMAN	Homo sapiens interleukin 15 (IL15), transcript variant 3, mRNA.	76					cell-cell signaling|immune response|positive regulation of interleukin-17 production	Golgi apparatus|endosome|extracellular space|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					TTATATACGGAAAGTGATGTT	0.264000														29			7		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40405618	40405618	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:40405618G>A	uc002rrx.3	-	1	1848	c.1824C>T	c.(1822-1824)gtC>gtT	p.V608V	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.V608V|SLC8A1_uc002rsb.2_Intron|SLC8A1_uc002rrz.3_Intron|SLC8A1_uc002rsa.3_Intron|SLC8A1_uc002rsd.4_Intron	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	608	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAATTACCTTGACTGATATTG	0.438000														115			84		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190234018	190234018	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:190234018G>A	uc001gse.1	-	3	827	c.595C>T	c.(595-597)Caa>Taa	p.Q199*	FAM5C_uc010pot.1_Nonsense_Mutation_p.Q97*	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	199						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GATGCAATTTGAATGTGGTGA	0.418000														30			12		0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8793303	8793303	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:8793303G>A	uc002glt.3	-	7	865	c.798C>T	c.(796-798)ttC>ttT	p.F266F	PIK3R5_uc010vuz.2_Silent_p.F266F|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_Intron|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	266				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ACACCCCAGGGAAGCCAGCTT	0.642000														45			13		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31534368	31534368	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:31534368C>T	uc003aka.3	-	2	805	c.676G>A	c.(676-678)Gac>Aac	p.D226N		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	226	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GAGATGGAGTCGTGCTGATTC	0.612000														8			10		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156964947	156964947	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:156964947G>A	uc003lwz.3	-	3	383	c.304C>T	c.(304-306)Cct>Tct	p.P102S	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.P33S	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	102					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTTTGAGGGTTACCACTT	0.443000														78			44		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196887394	196887394	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:196887394G>A	uc001gtp.3	+	9	1732	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	CFH_uc021pgt.1_Missense_Mutation_p.G155E|CFH_uc009wyy.3_Missense_Mutation_p.G531E|CFH_uc001gto.3_Missense_Mutation_p.G285E	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	884	Sushi 9.				complement activation, alternative pathway	extracellular space		p.G285E(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGTTAAAAGGAAAAAGTGAC	0.279000														19			12		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481699	140481699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140481699C>T	uc003lio.3	+	0	1466	c.1466C>T	c.(1465-1467)tCg>tTg	p.S489L	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	489	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTAACCTACTCGCTGCTGCCG	0.642000														111			40		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63667612	63667612	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:63667612G>A	uc011kdn.2	+	0	32	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CCTGGAAGCCGAGAAATGGTG	0.577000														24			18		0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48145287	48145287	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:48145287G>A	uc001ngp.4	+	4	1094	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PTPRJ_uc001ngo.4_Missense_Mutation_p.E247K	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	247	Fibronectin type-III 2.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGAAGCCATGAGGAGTTGAC	0.512000														34			25		0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120336015	120336015	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:120336015C>T	uc001pxl.2	+	27	3018	c.2683C>T	c.(2683-2685)Ctg>Ttg	p.L895L	ARHGEF12_uc009zat.3_Silent_p.L876L|ARHGEF12_uc010rzn.1_Silent_p.L792L|ARHGEF12_uc009zau.1_Silent_p.L792L	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	895	DH.				G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ACCTTTCGCCCTGGAAATGAT	0.408000			T	MLL	AML									23			29		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532423	92532423	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:92532423C>T	uc001pdj.4	+	8	6261	c.6244C>T	c.(6244-6246)Cca>Tca	p.P2082S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2082	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGACAATTCTCCAGTCTTTGT	0.498000										TCGA Ovarian(4;0.039)				483			234		0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230840018	230840018	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:230840018G>A	uc001hty.4	-	3	1698	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	AGT_uc009xff.3_Missense_Mutation_p.A369V	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	397					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CTCAGCCTGGGCGAGCAGGTC	0.582000														20			15		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207758206	207758206	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:207758206C>T	uc001hfy.3	+	24	4305	c.4165C>T	c.(4165-4167)Ctt>Ttt	p.L1389F	CR1_uc009xcl.1_Missense_Mutation_p.L939F|CR1_uc001hfx.3_Missense_Mutation_p.L1839F|CR1_uc021pij.1_Missense_Mutation_p.L1389F	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1389	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCGCTGTGAACTTTCTGTTCG	0.498000														85			18		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185997655	185997655	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:185997655C>T	uc003fqa.3	-	8	1314	c.777G>A	c.(775-777)ctG>ctA	p.L259L	DGKG_uc003fqb.3_Silent_p.L259L|DGKG_uc003fqc.3_Silent_p.L259L|DGKG_uc011brx.2_Silent_p.L259L	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	259					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CATCCATCCCCAGGAGGACCA	0.498000														69			40		0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2635510	2635510	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:2635510C>T	uc002wgh.3	+	4	615	c.486C>T	c.(484-486)aaC>aaT	p.N162N	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_5'UTR|SNORA51_uc002wgk.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	162					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TTAATGTGAACCGGGTGGACA	0.502000														124			78		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24771991	24771991	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:24771991G>A	uc003xed.4	+	0	718	c.685G>A	c.(685-687)Gat>Aat	p.D229N	NEFM_uc011lac.1_Missense_Mutation_p.D229N|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_Missense_Mutation_p.S26F	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	229	Coil 1B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTCGCTGCAGGATGAGGTGGC	0.642000														23			13		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705003	30705003	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:30705003C>T	uc003xil.3	-	0	1531	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	511										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGAAATTTTCGTTTGTATGA	0.303000														63			34		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404964	10404964	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:10404964C>T	uc002gmo.3	-	25	3389	c.3295G>A	c.(3295-3297)Gaa>Aaa	p.E1099K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1099						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTTCATCTTCAATCTTGCTT	0.373000														24			18		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240635691	240635691	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:240635691G>C	uc010pye.2	+	17	5317	c.5092G>C	c.(5092-5094)Gtg>Ctg	p.V1698L	FMN2_uc010pyd.2_Missense_Mutation_p.V1694L|FMN2_uc010pyg.2_Missense_Mutation_p.V290L|FMN2_uc001hyr.3_Non-coding_Transcript	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1694	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCCGAAGAGGTGTGTAGACA	0.338000														54			10		0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	88035245	88035245	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:88035245C>T	uc002srs.4	+	7	1735	c.840C>T	c.(838-840)tcC>tcT	p.S280S				Q9H871	RMD5A_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA.	0										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						AGTCATACTCCTTAGCTGCTG	0.463000														28			10		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196927075	196927075	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:196927075C>T	uc001gtq.1	+	3	562	c.485C>T	c.(484-486)tCa>tTa	p.S162L	CFHR2_uc001gtr.1_Missense_Mutation_p.S38L	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	162	Sushi 3.					extracellular region		p.S162L(2)		large_intestine(2)|ovary(1)|skin(3)	6						GACATTACTTCATTCCTGTTG	0.378000														61			14		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546699	11546699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:11546699C>T	uc010shk.1	-	2	348	c.313G>A	c.(313-315)Gga>Aga	p.G105R		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACTTGTCTCCTTGTGGGGGT	0.607000														448			18		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68956812	68956812	+	Silent	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:68956812G>T	uc003xxv.1	+	7	957	c.930G>T	c.(928-930)gtG>gtT	p.V310V	PREX2_uc003xxu.1_Silent_p.V310V|PREX2_uc011lez.1_Silent_p.V245V	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	310	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGGAGAATGTGGATGATGGCA	0.428000														75			32		8.4185e-14	8.50815e-14	1	1	0
FRMD1	79981	broad.mit.edu	37	6	168467476	168467476	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:168467476G>A	uc003qwo.4	-	3	485	c.420C>T	c.(418-420)ttC>ttT	p.F140F	FRMD1_uc003qwm.4_5'Flank|FRMD1_uc011egs.2_5'UTR|FRMD1_uc011egt.2_Silent_p.F52F|FRMD1_uc003qwn.4_Silent_p.F72F	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	140	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCACTCGGAGGAAGGCCACGA	0.547000														26			33		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222401	142222401	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:142222401G>A	uc003ywd.1	-	6	2351	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S	SLC45A4_uc003ywc.1_Silent_p.S681S|SLC45A4_uc010meq.1_Silent_p.S679S	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	732					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGGCCAACGGGGAAGACAGGC	0.632000														34			17		0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148985583	148985583	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:148985583G>C	uc003ilf.3	+	21	2197	c.2197G>C	c.(2197-2199)Gct>Cct	p.A733P	ARHGAP10_uc003ilg.3_Missense_Mutation_p.A331P|ARHGAP10_uc003ilh.3_Missense_Mutation_p.A314P|ARHGAP10_uc003ili.3_Missense_Mutation_p.A166P	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	733	SH3.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CAGTCGGAAGGCTCGAGCCGT	0.458000														25			27		0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35452993	35452993	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:35452993G>A	uc001byh.3	-	15	3918	c.3690C>T	c.(3688-3690)ttC>ttT	p.F1230F	LOC653160_uc001byd.4_5'Flank|ZMYM6NB_uc001bye.3_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc021olg.1_Silent_p.F543F|ZMYM6_uc010oht.2_Silent_p.F1133F	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	1230					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.D1229N(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTCTTCTTCGAAGTCGGTGA	0.353000														49			13		0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76800037	76800037	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:76800037G>A	uc002jvz.1	-	15	2565	c.2240C>T	c.(2239-2241)tCa>tTa	p.S747L	USP36_uc002jwa.1_Missense_Mutation_p.S747L|USP36_uc002jwb.1_Intron|USP36_uc002jwc.1_Missense_Mutation_p.S447L|USP36_uc002jvy.1_5'Flank	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	747					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCGGCTGGATGATTGGGGAGC	0.612000														34			42		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40727111	40727111	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:40727111C>T	uc002xkg.3	-	26	3980	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N	PTPRT_uc010ggj.3_Missense_Mutation_p.D1285N|PTPRT_uc010ggi.3_Missense_Mutation_p.D469N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1266	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.D1288N(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)				CAGTTGTAATCGAACACCAGC	0.587000														50			32		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175815	79175815	+	Missense_Mutation	SNP	G	A	A	rs148371115		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:79175815G>A	uc001xun.3	+	3	849	c.358G>A	c.(358-360)Gag>Aag	p.E120K	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.E254K	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.E120K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAAGCCCCAAGAGAGGAAGGA	0.522000														95			10		0	0	1	0	0
DEDD2	162989	broad.mit.edu	37	19	42703977	42703977	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:42703977G>A	uc002osu.1	-	4	662	c.594C>T	c.(592-594)atC>atT	p.I198I	DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Silent_p.I193I	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	Homo sapiens death effector domain containing 2 (DEDD2), mRNA.	198					RNA processing|activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CCCGGAGCCGGATGTCTGCAG	0.667000														8			3		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412003	51412003	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:51412003C>T	uc001nhi.2	-	0	446	c.393G>A	c.(391-393)ttG>ttA	p.L131L		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TCATGATGGTCAAATAGTGCA	0.463000														41			30		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237851	56237851	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:56237851G>A	uc010rjk.2	-	0	164	c.123C>T	c.(121-123)atC>atT	p.I41I	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	41					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)					CCATCATGCCGATATTGCCCA	0.438000														40			18		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294445	25294445	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:25294445C>T	uc003abg.2	+	19	2851	c.2694C>T	c.(2692-2694)ctC>ctT	p.L898L	SGSM1_uc010guu.1_Silent_p.L843L|SGSM1_uc003abh.2_Silent_p.L837L|SGSM1_uc003abj.2_Silent_p.L782L|SGSM1_uc003abi.1_Silent_p.L818L	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	898	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TGGAAAGTCTCTTCCCTGCCC	0.582000														37			32		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739291	62739291	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:62739291G>A	uc001dah.4	-	2	1862	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	495										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTTCAGTGGAGAGGAAGCTAT	0.577000														44			41		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42454643	42454643	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:42454643G>A	uc001zpd.3	-	22	2396	c.2245C>T	c.(2245-2247)Ccc>Tcc	p.P749S	VPS39_uc001zpc.3_Missense_Mutation_p.P738S|VPS39_uc001zpb.3_Missense_Mutation_p.P84S	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	749					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGAATGCTGGGGGGCGACAGG	0.587000														57			15		0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38103401	38103401	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:38103401C>T	uc002yvr.2	+	6	855	c.799C>T	c.(799-801)Cat>Tat	p.H267Y	SIM2_uc002yvq.3_Missense_Mutation_p.H267Y	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	267	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GACCCTATACCATCACGTGCA	0.637000														42			19		0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3692299	3692299	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:3692299G>A	uc001qmf.3	+	7	1271	c.904G>A	c.(904-906)Gac>Aac	p.D302N	PRMT8_uc009zed.3_Missense_Mutation_p.D293N|PRMT8_uc009zee.1_Non-coding_Transcript|PRMT8_uc001qmg.3_Missense_Mutation_p.D116N	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	302					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.N301K(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			ACAGCGCAACGACTACGTCCA	0.483000														28			35		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95057106	95057107	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:95057106_95057107CC>TT	uc001ydm.2	+	4	1121_1122	c.911_912CC>TT	c.(910-912)ccc>cTT	p.P304L	SERPINA3_uc001ydo.4_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	304					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTTTACCTTCCCAAATTCTCCA	0.525000														30			27		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66081851	66081851	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:66081851C>T	uc001dci.3	+	14	2545	c.2156C>T	c.(2155-2157)tCa>tTa	p.S719L	LEPR_uc001dcg.3_Missense_Mutation_p.S719L|LEPR_uc001dch.3_Missense_Mutation_p.S719L|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.S719L|LEPR_uc001dcj.3_Missense_Mutation_p.S719L|LEPR_uc001dck.3_Missense_Mutation_p.S719L	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	719	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCCATCAATTCAATTGGTGCT	0.403000														31			5		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34648793	34648793	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:34648793G>A	uc010ucc.2	+	7	2966	c.2584G>A	c.(2584-2586)Gat>Aat	p.D862N	C15orf55_uc010ucd.2_Missense_Mutation_p.D852N|C15orf55_uc001zif.3_Missense_Mutation_p.D834N	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	834						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GCATCCCAGTGATCTGTGGGC	0.512000			T	"""BRD3, BRD4"""	lethal midline carcinoma									83			15		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74907660	74907661	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:74907660_74907661AC>CT	uc001owb.3	+	9	1930_1931	c.1535_1536AC>CT	c.(1534-1536)tac>tCT	p.Y512S	SLCO2B1_uc010rrq.2_Missense_Mutation_p.Y257S|SLCO2B1_uc010rrr.2_Missense_Mutation_p.Y368S|SLCO2B1_uc010rrs.2_Missense_Mutation_p.Y396S|SLCO2B1_uc001owc.3_Missense_Mutation_p.Y285S|SLCO2B1_uc001owd.3_Missense_Mutation_p.Y490S	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	512	Kazal-like.				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CGTGTGGAATACATCACACCCT	0.629000														53			12		0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452276	26452276	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:26452276C>T	uc003nhz.3	+	10	1635	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	BTN3A3_uc011dkn.2_Silent_p.F415F|BTN3A3_uc021ynh.1_Silent_p.F254F	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	464	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGGGGATCTTCCTGGACTATG	0.498000														105			45		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103051974	103051974	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:103051974C>T	uc003vbz.3	-	5	725	c.463G>A	c.(463-465)Gat>Aat	p.D155N	SLC26A5_uc003vbt.2_Missense_Mutation_p.D155N|SLC26A5_uc003vbu.2_Missense_Mutation_p.D155N|SLC26A5_uc003vbv.2_Missense_Mutation_p.D155N|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.D155N	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	155					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.D155N(4)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ATGACTATATCATCTGGTACT	0.443000														32			17		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51399305	51399305	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:51399305G>A	uc011bds.2	+	47	5045	c.5022G>A	c.(5020-5022)atG>atA	p.M1674I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1674						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)		TGAACTTGATGGGCACAGGCC	0.562000														11			7		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927701	55927701	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:55927701G>A	uc010rja.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AGATGACGAGGAAGACTCCAA	0.443000														52			29		0	0	1	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61672311	61672311	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:61672311G>A	uc001nso.3	-	5	859	c.701C>T	c.(700-702)tCc>tTc	p.S234F	RAB3IL1_uc001nsp.3_Missense_Mutation_p.S208F	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	Homo sapiens RAB3A interacting protein (rabin3)-like 1 (RAB3IL1), mRNA.	234							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CAGGGTGGGGGATTCCCTCCA	0.632000														40			21		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117792609	117792609	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:117792609G>C	uc004bjj.4	-	23	6408	c.5996C>G	c.(5995-5997)aCc>aGc	p.T1999S	TNC_uc010mvf.3_Missense_Mutation_p.T1726S|TNC_uc022bmj.1_Missense_Mutation_p.T1636S	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1999	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGATAAATGGTGTAGAGGCC	0.517000														57			49		0	0	1	0	0
HSH2D	84941	broad.mit.edu	37	19	16268549	16268549	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:16268549G>A	uc002ndp.4	+	8	1534	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	HSH2D_uc002ndr.3_3'UTR|HSH2D_uc010ead.3_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.	335						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						GCCTGAGAACGACCAGCTCCC	0.632000														12			10		0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4104196	4104196	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4104196A>C	uc021qco.1	+	8	1790	c.1222A>C	c.(1222-1224)Aaa>Caa	p.K408Q	STIM1_uc001lyv.2_Missense_Mutation_p.K408Q|STIM1_uc009yef.2_Missense_Mutation_p.K408Q|STIM1_uc009yeg.2_Missense_Mutation_p.K235Q	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	408					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TGTAGATCATAAAATTCTAAC	0.448000														66			17		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432867	180432867	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:180432867G>A	uc003mmr.3	+	7	1580	c.1396G>A	c.(1396-1398)Gga>Aga	p.G466R	BTNL3_uc010jlp.3_Missense_Mutation_p.G251R	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	466					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGTGTCCTGGGGATGAGACAG	0.552000														14			12		0	0	1	0	0
WHAMMP2	440253	broad.mit.edu	37	15	28996737	28996737	+	RNA	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:28996737G>A	uc010uap.2	+	6		c.1527G>A			WHAMMP2_uc010azg.1_Non-coding_Transcript|WHAMMP2_uc010azh.1_Non-coding_Transcript|WHAMMP2_uc001zci.1_Non-coding_Transcript|WHAMMP2_uc010azi.1_Non-coding_Transcript					Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2 (WHAMMP2), non-coding RNA.																		GGAAGTGAAAGAACTCAGAAG	0.483000														1			2		0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30920811	30920811	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:30920811G>A	uc003nsg.2	+	2	4099	c.4099G>A	c.(4099-4101)Gat>Aat	p.D1367N		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	491						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						TGATGCAGAGGATGAGGGTGG	0.552000														31			27		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82474748	82474748	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:82474748G>A	uc003uhx.2	-	12	14174	c.13885C>T	c.(13885-13887)Cag>Tag	p.Q4629*	PCLO_uc003uhv.2_Nonsense_Mutation_p.Q4629*|PCLO_uc003uht.1_Nonsense_Mutation_p.Q80*|PCLO_uc003uhu.1_Nonsense_Mutation_p.Q59*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4517	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAACCTTCTGGAGTTCTGCT	0.443000														18			6		0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29974845	29974845	+	Splice_Site	SNP	G	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:29974845G>C	uc003nou.4	+	3		c.669_splice	c.e3+1		HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nov.4_Splice_Site|HLA-J_uc003rtl.4_Intron					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		AGAGCGAGGCGGGTGAGTGAC	0.667000														12			3		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156937781	156937781	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:156937781G>A	uc001fqo.3	-	9	1881	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	ARHGEF11_uc001fqn.3_Nonsense_Mutation_p.Q321*	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	281					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCACTCACCTGGTCACCGGTT	0.567000														37			11		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634361	156634361	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:156634361C>T	uc003iov.3	+	7	1734	c.1198C>T	c.(1198-1200)Ctc>Ttc	p.L400F	GUCY1A3_uc010iqc.2_Missense_Mutation_p.L400F|GUCY1A3_uc010iqd.3_Missense_Mutation_p.L399F|GUCY1A3_uc003iow.3_Missense_Mutation_p.L400F|GUCY1A3_uc003iox.3_Missense_Mutation_p.L400F|GUCY1A3_uc010iqe.3_Missense_Mutation_p.L165F|GUCY1A3_uc003ioy.3_Missense_Mutation_p.L400F|GUCY1A3_uc003ioz.3_Missense_Mutation_p.L165F|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.L400F	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	400					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.L400L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AGGGCTCTACCTCTCAGACAT	0.478000														22			30		0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3330346	3330347	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:3330346_3330347GC>TT	uc003zhr.3	-	4	698_699	c.386_387GC>AA	c.(385-387)agc>aAA	p.S129K	RFX3_uc010mhd.3_Missense_Mutation_p.S129K|RFX3_uc003zhs.1_Missense_Mutation_p.S129K|RFX3_uc003zht.1_Missense_Mutation_p.S129K|RFX3_uc010mhe.1_Missense_Mutation_p.S129K	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	129					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTCCAGAGCTGCTGATGAGTTG	0.540000														24			21		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153974234	153974234	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:153974234C>T	uc001fdw.3	-	35	5230	c.5158G>A	c.(5158-5160)Gac>Aac	p.D1720N	NUP210L_uc009woq.3_Missense_Mutation_p.D629N|NUP210L_uc010peh.2_Intron	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1720						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGAACTCTGTCCACTCCCAGT	0.398000														106			84		0	0	1	0	0
CDK1	983	broad.mit.edu	37	10	62545509	62545509	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:62545509C>T	uc001jld.3	+	3	424	c.282C>T	c.(280-282)atC>atT	p.I94I	CDK1_uc010qii.2_Silent_p.I94I|CDK1_uc021prh.1_Silent_p.I94I|CDK1_uc001jlg.3_Silent_p.I94I|CDK1_uc001jle.3_Non-coding_Transcript	NM_001786	NP_001777	P06493	CDK1_HUMAN	Homo sapiens cyclin-dependent kinase 1 (CDK1), transcript variant 1, mRNA.	94	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity			ovary(1)	1						TGGATTCTATCCCTCCTGGTC	0.343000														76			65		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24388577	24388577	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:24388577C>T	uc001bin.4	-	32	3956	c.3793G>A	c.(3793-3795)Gat>Aat	p.D1265N	MYOM3_uc001bil.4_Missense_Mutation_p.D158N|MYOM3_uc001bim.4_Missense_Mutation_p.D922N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1265										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTATCCGATCACCACTCTCC	0.527000														106			38		0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571480	71571480	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:71571480C>T	uc021tkt.1	+	0	900	c.900C>T	c.(898-900)ccC>ccT	p.P300P	CHST4_uc002fan.3_Silent_p.P300P|CHST4_uc002fao.3_Silent_p.P300P	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	300					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AATTCTTGCCCCATCTTCAGA	0.557000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			21		0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10192542	10192542	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:10192542C>T	uc002raf.1	+	3	1609	c.1447C>T	c.(1447-1449)Cca>Tca	p.P483S	KLF11_uc021vdq.1_Missense_Mutation_p.P466S|KLF11_uc010yjc.2_Missense_Mutation_p.P466S	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	483					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CAAGAAGATCCCAGGCTGGCA	0.607000														330			90		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117810648	117810648	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:117810648C>T	uc004bjj.4	-	15	5155	c.4743G>A	c.(4741-4743)caG>caA	p.Q1581Q	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1581	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCAGCTTCCTCTGGGTTCCTG	0.532000														39			35		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044176	75044176	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:75044176G>A	uc002ayr.1	+	3	1087	c.1023G>A	c.(1021-1023)agG>agA	p.R341R		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	341					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGATACAGAGGAAGATCCAGA	0.512000														53			32		0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69708038	69708039	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:69708038_69708039GG>AA	uc002sfp.2	-	18	3027_3028	c.2522_2523CC>TT	c.(2521-2523)ccc>cTT	p.P841L		NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	841						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GGAGGCGCTGGGGAACTGGGGG	0.535000														15			3		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234515	21234515	+	Missense_Mutation	SNP	A	G	G	rs151035908		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:21234515A>G	uc002red.3	-	25	5353	c.5225T>C	c.(5224-5226)aTg>aCg	p.M1742T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1742					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGAGCCCATCATGTCATTTGA	0.413000														625			199		0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105048248	105048248	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:105048248C>T	uc001kws.3	+	2	1371	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F		NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	441	Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		AAAGTCTCATCCACTGGGCTA	0.473000														91			20		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641880	99641880	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:99641880G>A	uc001yga.3	-	3	1560	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	BCL11B_uc001ygb.3_Silent_p.F360F	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	431						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TCTTGCCGCAGAACTCGCACG	0.682000			T	TLX3	T-ALL									23			10		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183070693	183070693	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:183070693C>T	uc002uos.3	-	8	1008	c.924G>A	c.(922-924)ttG>ttA	p.L308L	PDE1A_uc010zfp.1_Silent_p.L204L|PDE1A_uc002uoq.1_Silent_p.L308L|PDE1A_uc010zfq.1_Silent_p.L308L|PDE1A_uc002uor.3_Silent_p.L292L|PDE1A_uc002uou.3_Silent_p.L274L	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	308	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ATAAATTTATCAAGATATTCA	0.353000														26			7		0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273315	125273315	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:125273315C>T	uc011lyv.2	+	0	235	c.235C>T	c.(235-237)Cct>Tct	p.P79S	OR1J2_uc004bmj.2_Missense_Mutation_p.P79S	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TGTCACTGTCCCTAAGATGCT	0.448000														65			44		0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59949187	59949187	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:59949187G>A	uc010rla.2	-	2	571	c.98C>T	c.(97-99)cCt>cTt	p.P33L	MS4A6A_uc001noq.3_Missense_Mutation_p.P5L|MS4A6A_uc009ymv.3_Missense_Mutation_p.P5L|MS4A6A_uc001not.3_Missense_Mutation_p.P5L|MS4A6A_uc010rlb.2_Missense_Mutation_p.P5L	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	5						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATTGGGAACAGGTTGTGATGT	0.443000														65			45		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845439	123845439	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:123845439G>A	uc001lfv.3	+	3	3784	c.3424G>A	c.(3424-3426)Gga>Aga	p.G1142R	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.G1142R|TACC2_uc010qtv.2_Missense_Mutation_p.G1142R	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1142						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGAGACCCAGGAAAGCAGCA	0.587000														29			13		0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604614	58604614	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:58604614A>G	uc001nnd.4	-	4	481	c.350T>C	c.(349-351)gTt>gCt	p.V117A	GLYATL2_uc009ymq.3_Missense_Mutation_p.V117A	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	117						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGAAGTTGCAACCTTTCTTAT	0.413000														48			28		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234526798	234526798	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:234526798C>T	uc002vup.3	+	0	508	c.445C>T	c.(445-447)Cct>Tct	p.P149S	UGT1A1_uc010zmv.1_Missense_Mutation_p.P149S	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	152					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTTTCTTGATCCTTTTGATGC	0.393000														125			29		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8994476	8994476	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:8994476C>T	uc002mkp.3	-	63	41620	c.41416G>A	c.(41416-41418)Gag>Aag	p.E13806K	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.E623K|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13808	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACATGTTCTCCTCATACCGC	0.532000														83			67		0	0	1	0	0
ITLN2	142683	broad.mit.edu	37	1	160921002	160921002	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:160921002C>T	uc001fxd.3	-	3	330	c.272G>A	c.(271-273)tGg>tAg	p.W91*	ITLN2_uc009wts.3_Nonsense_Mutation_p.W90*|ITLN2_uc010pju.2_Nonsense_Mutation_p.W8*	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	91	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACCAGGGTCCAGCCGCCACC	0.572000														23			18		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52579234	52579234	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:52579234C>T	uc001rzw.3	-	0	300	c.249G>A	c.(247-249)gtG>gtA	p.V83V	KRT80_uc001rzy.3_Silent_p.V146V|KRT80_uc001rzx.3_Silent_p.V146V	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	234	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCTCCTGGCTCACTTTGCGCA	0.607000														51			40		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87913428	87913428	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:87913428G>A	uc022agz.1	-	2	380	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	STEAP4_uc003ujs.3_Nonsense_Mutation_p.Q53*|STEAP4_uc010lek.3_Nonsense_Mutation_p.Q53*	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	53					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GTGGTCTTCTGGGGGTTTCGA	0.438000														43			36		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151787050	151787050	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:151787050C>T	uc001ezh.3	-	6	1041	c.933_splice	c.e6+1	p.K311_splice	RORC_uc001ezg.3_Splice_Site_p.K290_splice|RORC_uc010pdo.2_Splice_Site_p.K365_splice|RORC_uc010pdp.2_Splice_Site_p.K311_splice	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	311	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGCCTCACCTTCCTCTGGT	0.647000														9			7		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17483288	17483288	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:17483288C>G	uc001mnc.3	-	4	790	c.664G>C	c.(664-666)Gtg>Ctg	p.V222L	ABCC8_uc010rcy.1_Missense_Mutation_p.V222L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	222					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)	AGCAGATTCACGAAGGGCTGC	0.577000														595			247		0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151056366	151056366	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:151056366C>T	uc003eyw.1	-	1	484	c.268G>A	c.(268-270)Gga>Aga	p.G90R	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_Missense_Mutation_p.G90R|P2RY12_uc003eyx.1_Missense_Mutation_p.G90R|P2RY12_uc021xga.1_Missense_Mutation_p.G90R	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	90					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CTCAGTGGTCCTGTTCCCAGT	0.343000														38			25		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38601666	38601667	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:38601666_38601667CC>TT	uc021wvo.1	-	21	4268_4269	c.4216_4217GG>AA	c.(4216-4218)ggg>AAg	p.G1406K	SCN5A_uc021wvk.1_Missense_Mutation_p.G1405K|SCN5A_uc021wvl.1_Missense_Mutation_p.G1352K|SCN5A_uc021wvm.1_Missense_Mutation_p.G1406K|SCN5A_uc021wvn.1_Missense_Mutation_p.G1405K|SCN5A_uc021wvp.1_Missense_Mutation_p.G1406K|SCN5A_uc021wvq.1_Missense_Mutation_p.G1405K|SCN5A_uc021wvr.1_Missense_Mutation_p.G1406K|SCN5A_uc021wvs.1_Missense_Mutation_p.G1406K|SCN5A_uc021wvt.1_Missense_Mutation_p.G1405K|SCN5A_uc021wvu.1_Missense_Mutation_p.G1352K|SCN5A_uc021wvv.1_Missense_Mutation_p.G1406K|SCN5A_uc021wvj.1_Missense_Mutation_p.G1218K|SCN5A_uc021wvi.1_Missense_Mutation_p.G1272K|SCN5A_uc021wvw.1_Missense_Mutation_p.G1016K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1406			G -> R (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTACCCGGCCCCCACGTTGTCA	0.525000														11			9		0	0	1	0	0
UBE2G2	7327	broad.mit.edu	37	21	46197277	46197277	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:46197277G>A	uc002zfy.3	-	3	269	c.181C>T	c.(181-183)Cca>Tca	p.P61S	UBE2G2_uc002zfx.3_Missense_Mutation_p.P33S|UBE2G2_uc021wjt.1_5'UTR	NM_003343	NP_001189418	P60604	UB2G2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2G 2 (UBE2G2), transcript variant 1, mRNA.	61					protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		TAATCAAGTGGGAAACTCAGG	0.413000														62			16		0	0	1	0	0
TCRAVN1	0	broad.mit.edu	37	14	22580760	22580760	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22580760G>A	uc010ajh.1	+	1	179	c.103G>A	c.(103-105)Gag>Aag	p.E35K	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 25, partial cds, clone: SEB 340.																		ACAAGAAGGAGAGGACTTCAC	0.403000														29			8		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263421	248263421	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248263421C>T	uc001ids.3	+	2	1081	c.744C>T	c.(742-744)atC>atT	p.I248I	OR2L13_uc021pmc.1_Silent_p.I248I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTGTAGTGATCTTTTACTATG	0.468000														46			35		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230343	21230343	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:21230343G>A	uc002red.3	-	25	9525	c.9397C>T	c.(9397-9399)Cct>Tct	p.P3133S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3133					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGCATTTCAGGAATTGTTAAA	0.373000														462			110		0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48537570	48537570	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:48537570G>A	uc002phu.2	-	4	530	c.398C>T	c.(397-399)gCc>gTc	p.A133V		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	133	EF-hand 3.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TCTCTGCATGGCCTGCTGTAG	0.517000														30			8		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965770	35965770	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:35965770G>A	uc003jjv.2	-	3	754	c.561C>T	c.(559-561)ttC>ttT	p.F187F	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.F187F|UGT3A1_uc011cor.2_Silent_p.F153F|UGT3A1_uc003jjy.2_Silent_p.F133F	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	187						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCAAGGAAGGGAATACTGGAA	0.468000														50			30		0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40301670	40301670	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:40301670T>C	uc001uxh.2	+	17	1911	c.1811T>C	c.(1810-1812)cTa>cCa	p.L604P	COG6_uc001uxi.2_Missense_Mutation_p.L552P|COG6_uc010acb.2_Missense_Mutation_p.L604P	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	604					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		AACTTTCTTCTAAGTGCCACA	0.308000														80			38		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28648980	28648980	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:28648980G>A	uc002kwl.4	-	14	2842	c.2388C>T	c.(2386-2388)tcC>tcT	p.S796S	DSC2_uc002kwk.4_Silent_p.S796S	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	796					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCCCCCGGCAGGATTCCGAGG	0.567000														55			9		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284683	52284683	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:52284683C>T	uc001rzd.3	+	4	1131	c.953C>T	c.(952-954)cCc>cTc	p.P318L	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.P193L|ANKRD33_uc001rze.3_Missense_Mutation_p.P214L|ANKRD33_uc001rzg.4_Missense_Mutation_p.P120L|ANKRD33_uc001rzi.4_Missense_Mutation_p.P193L	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	193										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CTGGCCAGTCCCTTCGTCACC	0.642000														12			9		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151775057	151775057	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:151775057G>A	uc003luv.2	-	2	1066	c.900C>T	c.(898-900)tcC>tcT	p.S300S		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	300					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAGCAGCCAGGGATTCACTCC	0.473000														49			39		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746976	94746976	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:94746976G>A	uc022aye.1	-	0	1663	c.1663C>T	c.(1663-1665)Cca>Tca	p.P555S	RBM12B_uc003yfz.3_Missense_Mutation_p.P555S	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	555							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AAGTCTTCTGGAGGGTGCCTG	0.542000														43			32		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089082	9089082	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9089082G>A	uc002mkp.3	-	0	2937	c.2733C>T	c.(2731-2733)ttC>ttT	p.F911F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	911	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						GGGATGAAGAGAACTGAGCTG	0.512000														36			4		0	0	1	0	0
WBP5	51186	broad.mit.edu	37	X	102612716	102612716	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:102612716T>C	uc022cbr.1	+	0	104	c.104T>C	c.(103-105)cTa>cCa	p.L35P	WBP5_uc004eke.3_Missense_Mutation_p.L35P|WBP5_uc004ekd.3_Missense_Mutation_p.L35P|WBP5_uc004ekf.3_Missense_Mutation_p.L35P|WBP5_uc004ekg.3_Missense_Mutation_p.L35P	NM_016303	NP_057387	Q9UHQ7	WPB5_HUMAN	Homo sapiens WW domain binding protein 5 (WBP5), transcript variant 1, mRNA.	35	Glu-rich.									breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						GAGGAGAAGCTAGAGGAGGAG	0.413000														25			5		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3458127	3458127	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:3458127C>T	uc002fvr.2	-	1	340	c.18G>A	c.(16-18)aaG>aaA	p.K6K	TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Silent_p.K6K|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Silent_p.K6K	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	6						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GCACCATCTCCTTGGGGTGGG	0.622000														26			5		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851398	34851398	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:34851398C>T	uc003teh.1	+	3	529	c.401C>T	c.(400-402)gCc>gTc	p.A134V	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.A134V|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.A134V|NPSR1_uc010kww.1_Missense_Mutation_p.A123V|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	134						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.Y133Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGCTCTACGCCTCTACCTAC	0.483000														48			36		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90049474	90049474	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:90049474G>A	uc003kju.3	+	53	11301	c.11205G>A	c.(11203-11205)gtG>gtA	p.V3735V	GPR98_uc003kjt.3_Silent_p.V1441V|GPR98_uc003kjv.3_Silent_p.V1335V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3735	Calx-beta 24.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGAGGTTGTGATTGTAACCC	0.383000														41			27		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552019	100552019	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:100552019C>T	uc003uxl.1	+	0	1270	c.470C>T	c.(469-471)tCc>tTc	p.S157F	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCAGTGTTCTCCACTACCATT	0.433000														585			78		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389390	48389390	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:48389390G>A	uc001jez.3	-	0	1602	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	496	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGGGCCCTGGAAGTAGGACA	0.652000														24			28		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158057798	158057798	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:158057798G>A	uc003ipj.2	+	4	677	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	GLRB_uc021xtp.1_Missense_Mutation_p.E159K|GLRB_uc021xtq.1_Missense_Mutation_p.E159K	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	159					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TGTGACCCAGGAAAACATCCT	0.338000														62			54		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120016	103120016	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:103120016G>A	uc002tbz.4	+	2	1287	c.830G>A	c.(829-831)gGg>gAg	p.G277E		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	277					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.G277G(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGGCTTGGAGGGGTATTGTTT	0.398000														51			12		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100118199	100118199	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:100118199G>A	uc004egj.3	-	3	492	c.286C>T	c.(286-288)Cac>Tac	p.H96Y	NOX1_uc004egl.4_Missense_Mutation_p.H96Y|NOX1_uc010nne.3_Missense_Mutation_p.H59Y	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	96	Ferric oxidoreductase.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTGAGGTTGTGATCCAATTGC	0.448000														29			92		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118968492	118968492	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:118968492G>A	uc003ksm.2	+	1	330	c.120G>A	c.(118-120)gtG>gtA	p.V40V	FAM170A_uc003ksl.2_Silent_p.V40V|FAM170A_uc003ksn.3_Silent_p.V40V|FAM170A_uc003kso.3_Intron	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	40						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CCACTAGAGTGGCCAAAGGCT	0.507000														44			48		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328292	126328292	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:126328292C>T	uc003ifj.4	+	2	5565	c.5565C>T	c.(5563-5565)atC>atT	p.I1855I	FAT4_uc011cgp.2_Silent_p.I153I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1855	Cadherin 18.				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						AGGACACAATCCCTGGTAGGT	0.388000														82			16		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89971928	89971928	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:89971928G>A	uc003kju.3	+	24	5441	c.5345G>A	c.(5344-5346)gGa>gAa	p.G1782E	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1782	Calx-beta 12.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCAACCAGGAGAAAGATAT	0.299000														19			10		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115348125	115348125	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:115348125C>T	uc003kro.3	+	14	2466	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	768					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AACTATAATTCGTGAAAATGT	0.289000														67			33		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394514	86394514	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:86394514G>A	uc003uid.3	+	1	1152	c.53G>A	c.(52-54)gGa>gAa	p.G18E	GRM3_uc010lef.3_Missense_Mutation_p.G16E|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	18					synaptic transmission	integral to plasma membrane		p.G18E(2)|p.K17N(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTTTCAAAGGGATTTTTACTC	0.398000														73			44		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135010603	135010603	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:135010603G>A	uc001llz.1	+	10	1777	c.1776G>A	c.(1774-1776)cgG>cgA	p.R592R	KNDC1_uc001lma.1_Silent_p.R527R|KNDC1_uc001lmb.1_Silent_p.R4R	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	592	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGGACAGCCGGAAAATCCTTG	0.662000														21			5		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122754787	122754787	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:122754787G>A	uc004etu.3	-	31	4278	c.4246C>T	c.(4246-4248)Cct>Tct	p.P1416S	THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Missense_Mutation_p.P237S	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1416	Lys-rich.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GATGGAGAAGGGTGAGTATCA	0.403000														33			101		0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100484424	100484424	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:100484424C>T	uc003uwy.2	+	13	1923	c.1656C>T	c.(1654-1656)ccC>ccT	p.P552P	SRRT_uc010lhl.1_Silent_p.P551P|SRRT_uc003uxa.2_Silent_p.P551P|SRRT_uc003uwz.2_Silent_p.P552P	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	552					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGAGCCTGCCCTCGCAAAACC	0.567000														19			11		0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96300215	96300215	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:96300215T>A	uc001tek.2	-	4	553	c.319A>T	c.(319-321)Agg>Tgg	p.R107W		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	107										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGACAGTCCTTTTTGTGTCG	0.328000														30			7		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220336616	220336616	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:220336616C>T	uc010fwg.3	+	13	3742	c.3742C>T	c.(3742-3744)Cct>Tct	p.P1248S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1248	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTTGGTGTTCCCTGCCGTGGG	0.627000														48			15		0	0	1	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074388	46074388	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:46074388G>A	uc002zfs.1	-	0	189	c.144C>T	c.(142-144)ccC>ccT	p.P48P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA.	48	15 X 5 AA approximate repeats.					keratin filament		p.R47Q(1)		lung(4)|ovary(1)|prostate(1)	6						CCCCACACAGGGGCCGGCACA	0.672000														20			15		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234676946	234676946	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:234676946G>A	uc002vuw.3	+	3	1168	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	UGT1A1_uc010zmv.1_Missense_Mutation_p.V386M|UGT1A1_uc002vup.3_Missense_Mutation_p.V386M|UGT1A1_uc002vuq.3_Missense_Mutation_p.V386M|UGT1A1_uc002vur.3_Missense_Mutation_p.V386M|UGT1A1_uc010zmw.1_Missense_Mutation_p.V386M|UGT1A1_uc002vus.3_Missense_Mutation_p.V386M|UGT1A1_uc010zmx.1_Missense_Mutation_p.V386M|UGT1A1_uc002vut.3_Missense_Mutation_p.V386M|UGT1A1_uc002vuu.3_Missense_Mutation_p.V121M|UGT1A1_uc010zmy.1_Missense_Mutation_p.V388M|UGT1A1_uc002vuv.4_Missense_Mutation_p.V388M|UGT1A1_uc010zmz.1_Missense_Mutation_p.V390M|UGT1A1_uc010zna.1_Missense_Mutation_p.V390M|UGT1A1_uc002vux.3_Missense_Mutation_p.V390M|UGT1A1_uc010znb.1_Missense_Mutation_p.V390M|UGT1A1_uc002vuy.3_Missense_Mutation_p.V390M|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc010znc.1_Missense_Mutation_p.V389M|UGT1A1_uc002vvb.3_Missense_Mutation_p.V389M	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	389					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CGTTCCCATGGTGATGATGCC	0.488000														78			28		0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975752	152975752	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152975752C>T	uc021ozo.1	+	0	256	c.256C>T	c.(256-258)Cct>Tct	p.P86S	SPRR3_uc001fax.4_Missense_Mutation_p.P86S|SPRR3_uc001faz.4_Missense_Mutation_p.P86S|SPRR3_uc001fay.2_Missense_Mutation_p.P78S	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	86	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.V85I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACCAAGGTCCCTGAGCCAGG	0.602000														46			14		0	0	1	0	0
DHH	50846	broad.mit.edu	37	12	49485129	49485129	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:49485129T>C	uc001rtf.3	-	1	654	c.347A>G	c.(346-348)aAc>aGc	p.N116S		NM_021044	NP_066382	O43323	DHH_HUMAN	Homo sapiens desert hedgehog (DHH), mRNA.	116					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						GGGCCACATGTTCATCACGGC	0.607000														23			21		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66856755	66856755	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:66856755C>T	uc001stk.3	-	8	1232	c.991G>A	c.(991-993)Gag>Aag	p.E331K	GRIP1_uc010sta.1_Missense_Mutation_p.E275K|GRIP1_uc001stj.3_Missense_Mutation_p.E61K|GRIP1_uc001stm.3_Missense_Mutation_p.E331K|GRIP1_uc001stl.1_Missense_Mutation_p.E275K	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	331	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGAAGGATCTCAAGCTTGACC	0.557000														18			9		0	0	1	0	0
STL	7955	broad.mit.edu	37	6	125232348	125232348	+	RNA	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:125232348G>A	uc003pzq.3	-	6		c.2386C>T								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		CCCTTAAAATGGAAAGAATCA	0.433000			T	ETV6	B-ALL									1			2		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716248	13716248	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:13716248C>T	uc001rbt.2	-	12	4103	c.3924G>A	c.(3922-3924)gtG>gtA	p.V1308V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1308					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTGCAGGTCCACGAAGGTGT	0.592000														54			41		0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38295481	38295481	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:38295481G>A	uc001wuj.3	+	10	1348	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.G319R|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		AGCCTATGAAGGAAGAGCTGT	0.363000														26			31		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139907953	139907953	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:139907953C>T	uc003lfs.2	+	28	5576	c.5422C>T	c.(5422-5424)Cct>Tct	p.P1808S	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P1808S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P547S|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.P446S|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.P243S|ANKHD1-EIF4EBP3_uc003lfx.1_5'UTR	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1808						cytoplasm|nucleus	RNA binding	p.P1808S(3)		breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGCATTTCCTTTGGGTGC	0.408000														75			38		0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75614339	75614339	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:75614339G>A	uc001dgo.3	+	7	1446	c.782G>A	c.(781-783)aGg>aAg	p.R261K	LHX8_uc001dgq.3_Missense_Mutation_p.R200K	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	261						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TTGGCAGAAAGGACAGGCTTG	0.373000														13			5		0	0	1	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249392	3249392	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:3249392C>T	uc021qcj.1	-	0	635	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	MRGPRE_uc001lxq.4_Missense_Mutation_p.R212Q	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	212						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGAAGCCCCGGGGTGGGGG	0.672000														0			11		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048413	42048413	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:42048413C>T	uc001cgz.4	-	3	3269	c.2056G>A	c.(2056-2058)Gaa>Aaa	p.E686K	HIVEP3_uc001cha.4_Missense_Mutation_p.E686K|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	686	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGACTCTTTTCAGCTTCTGGA	0.483000														80			17		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063173	72063173	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:72063173G>A	uc021rkj.1	-	6	2107	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	DACH1_uc021rkk.1_Missense_Mutation_p.P414S|DACH1_uc021rkl.1_Missense_Mutation_p.P360S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	612					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGTCCATCAGGAAACAGAAAA	0.463000														174			49		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19485576	19485576	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:19485576G>A	uc002dgc.4	+	11	2817	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	TMC5_uc010vaq.2_Missense_Mutation_p.E638K|TMC5_uc002dgb.4_Missense_Mutation_p.E690K|TMC5_uc010var.2_Missense_Mutation_p.E690K|TMC5_uc002dgd.1_Missense_Mutation_p.E444K|TMC5_uc002dge.4_Missense_Mutation_p.E444K|TMC5_uc002dgf.4_Missense_Mutation_p.E373K|TMC5_uc002dgg.4_Missense_Mutation_p.E331K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	690						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCACGGCACGAAGTCTACGT	0.527000														93			23		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18975554	18975554	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:18975554C>T	uc003sui.3	+	21	2967	c.2926C>T	c.(2926-2928)Cta>Tta	p.L976L	HDAC9_uc003sue.3_Silent_p.L973L|HDAC9_uc003suh.3_Silent_p.L973L|HDAC9_uc003suj.3_Silent_p.L932L|HDAC9_uc003suk.3_Silent_p.L221L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	973	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.L975I(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAATGCCCTTCTAGGAAATGA	0.403000														85			74		0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10127869	10127869	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:10127869C>T	uc002mmr.3	+	1	489	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	80					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TCAGCTGTATCCAGGGAGAAG	0.597000														18			14		0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6787525	6787525	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:6787525G>A	uc010sfh.2	-	5	724	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	ZNF384_uc001qqa.3_Missense_Mutation_p.P152S|ZNF384_uc001qqd.3_Intron|ZNF384_uc009zew.1_Missense_Mutation_p.P7S	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GAGCCAGGGGGAAGAGCTGAG	0.587000			T	"""EWSR1, TAF15 """	ALL									30			17		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513132	70513132	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:70513132G>A	uc011caq.2	-	1	347	c.231C>T	c.(229-231)ccC>ccT	p.P77P	UGT2A1_uc010ihu.3_Silent_p.P77P|UGT2A1_uc003hem.4_Silent_p.P77P|UGT2A1_uc010iht.3_Silent_p.P77P	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	77					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTTTGCCAAAGGGCACCCTAT	0.403000														32			10		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587197	42587197	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:42587197C>T	uc003xpi.1	+	4	875	c.747C>T	c.(745-747)ttC>ttT	p.F249F		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	249					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGCTGTCTTTCCTAACAGTTC	0.438000														55			31		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552138	178552138	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:178552138G>A	uc003mjw.3	-	18	2896	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	932	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGCCTGTCCGCCCACAGGTC	0.667000														84			66		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553689	19553689	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:19553689G>A	uc001vuz.1	+	0	325	c.273G>A	c.(271-273)atG>atA	p.M91I	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	91										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTCTGCTATGAAGACACTCA	0.622000														502			20		0	0	1	0	0
POTED	317754	broad.mit.edu	37	21	15013756	15013756	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:15013756G>A	uc002yjb.1	+	10	1676	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	542						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GGAACTAGATGAAACAAAACA	0.358000														18			25		0	0	1	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109667988	109667988	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:109667988C>T	uc003hzc.3	-	9	1283	c.1102G>A	c.(1102-1104)Gga>Aga	p.G368R	AGXT2L1_uc010imc.3_Missense_Mutation_p.G362R|AGXT2L1_uc011cfm.2_Missense_Mutation_p.G328R|AGXT2L1_uc011cfn.2_Missense_Mutation_p.G295R|AGXT2L1_uc011cfo.2_Missense_Mutation_p.G310R	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	368					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		AAATCAATTCCAATAAAAAGG	0.448000														122			33		0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34852987	34852987	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:34852987G>A	uc002lae.2	-	6	1337	c.941C>T	c.(940-942)cCa>cTa	p.P314L	CELF4_uc021uix.1_Missense_Mutation_p.P312L|CELF4_uc021uiy.1_Missense_Mutation_p.P313L|CELF4_uc002lag.2_Missense_Mutation_p.P304L|CELF4_uc002laf.2_Missense_Mutation_p.P309L|CELF4_uc002lai.2_Missense_Mutation_p.P299L|CELF4_uc002lah.2_Missense_Mutation_p.P39L|CELF4_uc002laj.1_Silent_p.P149P	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	314					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						ACCTGAGGTTGGGGTCATAGG	0.652000														26			15		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139155261	139155261	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:139155261C>T	uc003yuy.3	-	15	3803	c.3632G>A	c.(3631-3633)cGa>cAa	p.R1211Q	FAM135B_uc003yux.3_Missense_Mutation_p.R1112Q|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.R773Q|FAM135B_uc003yvb.3_3'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1211								p.R1211Q(3)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTACCTAATTCGGGATATGGA	0.393000										HNSCC(54;0.14)				32			10		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779412	159779412	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:159779412C>T	uc001fud.4	+	4	867	c.825C>T	c.(823-825)tcC>tcT	p.S275S	FCRL6_uc001fuc.2_Silent_p.S282S|FCRL6_uc009wsz.1_Silent_p.S180S|FCRL6_uc009wta.3_Silent_p.S275S	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	275	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GGAACTACTCCTGCGAGGCTG	0.537000														53			9		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540642	28540642	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:28540642C>T	uc003nlo.3	-	3	3642	c.3024G>A	c.(3022-3024)atG>atA	p.M1008I		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1008					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						atatttttttcatggcaagac	0.299000														44			34		0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436451	16436451	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:16436451C>T	uc003zml.3	-	5	1881	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	BNC2_uc011lmw.2_Missense_Mutation_p.E486K|BNC2_uc003zmm.3_Missense_Mutation_p.E539K|BNC2_uc003zmq.1_Missense_Mutation_p.E595K|BNC2_uc003zmr.1_Missense_Mutation_p.E618K|BNC2_uc003zmp.1_Missense_Mutation_p.E609K|BNC2_uc010mij.1_Missense_Mutation_p.E503K|BNC2_uc011lmv.2_Missense_Mutation_p.E407K|BNC2_uc003zmo.1_Missense_Mutation_p.E503K|BNC2_uc003zmj.3_Missense_Mutation_p.E346K|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.E346K|BNC2_uc003zmn.1_Missense_Mutation_p.E346K	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	581	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTCACCATTTCCCCTGGAGTG	0.522000														37			49		0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37420676	37420676	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:37420676C>T	uc011amu.2	+	1	656	c.480C>T	c.(478-480)ctC>ctT	p.L160L	MPST_uc003aqi.1_Silent_p.L140L|MPST_uc003aqm.3_Silent_p.L140L|MPST_uc003aql.3_Silent_p.L140L|MPST_uc003aqj.3_Silent_p.L140L	NM_021126	NP_001123989	P25325	THTM_HUMAN	Homo sapiens mercaptopyruvate sulfurtransferase (MPST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	140	Hinge.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						GCCAGAACCTCCCGCTCAGCT	0.667000														2			12		0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713721	32713721	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32713721G>A	uc003obx.3	+	2	543	c.485G>A	c.(484-486)aGc>aAc	p.S162N		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	162	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTGAGACCAGCTTCCTCTCC	0.498000														232			23		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187656	152187656	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152187656C>T	uc001ezt.1	-	2	6525	c.6449G>A	c.(6448-6450)gGa>gAa	p.G2150E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2150					keratinization		calcium ion binding|protein binding	p.G2150*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCTAGATCCGTGTCGTTC	0.582000														773			25		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106918692	106918692	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:106918692C>T	uc001kyi.1	+	10	1899	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	558						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCTGAAAATCCATATTCCTC	0.448000														50			9		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25178514	25178514	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:25178514G>A	uc003xeg.3	+	15	1698	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.E235K|DOCK5_uc003xei.3_Missense_Mutation_p.E91K	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	521	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGCTATAGAAGAAGTCACACG	0.338000														24			12		0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003886	228003886	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:228003886C>T	uc001hrh.3	+	1	244	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	82	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.G81V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTACGCAGGCCTCCACGTCTG	0.662000														91			23		0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46973182	46973182	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:46973182G>A	uc002peq.4	-	1	1417	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S	PNMAL1_uc002per.4_Intron	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	371										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TAGGAGACAGGGCCCAAGCTC	0.562000														127			28		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24708140	24708140	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:24708140G>A	uc003swx.3	+	9	1274	c.975G>A	c.(973-975)caG>caA	p.Q325Q	MPP6_uc003swy.3_Silent_p.Q325Q	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	325					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATGAAATCCAGATATATGAGG	0.358000														15			15		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072871	15072871	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:15072871C>T	uc002naa.1	-	4	885	c.878G>A	c.(877-879)aGg>aAg	p.R293K	SLC1A6_uc010dzu.1_Missense_Mutation_p.R293K|SLC1A6_uc010xod.1_Missense_Mutation_p.R229K|SLC1A6_uc002nab.3_Missense_Mutation_p.R293K|SLC1A6_uc002nac.3_Missense_Mutation_p.R293K	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	293					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GAAGAAGTCCCTGAGGACTCT	0.582000														90			13		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017381	93017381	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:93017381C>T	uc022axs.1	-	5	1067	c.880G>A	c.(880-882)Gat>Aat	p.D294N	RUNX1T1_uc003yfc.2_Missense_Mutation_p.D208N|RUNX1T1_uc010mam.3_Missense_Mutation_p.D208N|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D198N|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D235N|RUNX1T1_uc022axo.1_Missense_Mutation_p.D235N|RUNX1T1_uc010mao.3_Missense_Mutation_p.D208N|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D246N|RUNX1T1_uc022axp.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axq.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axr.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axt.1_Missense_Mutation_p.D235N|RUNX1T1_uc022axu.1_Missense_Mutation_p.D215N|RUNX1T1_uc022axv.1_Missense_Mutation_p.D235N|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D198N|RUNX1T1_uc003yff.1_Missense_Mutation_p.D198N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	235	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCGTTCACATCGAGAAGCAGC	0.552000														69			54		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020433	5020433	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5020433G>A	uc010qyu.2	+	0	221	c.221G>A	c.(220-222)gGg>gAg	p.G74E		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G74W(1)|p.L73L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGACCTGGGGATGTCCCTG	0.458000														126			50		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30690836	30690836	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:30690836G>A	uc003xil.3	-	3	8336	c.8336C>T	c.(8335-8337)cCa>cTa	p.P2779L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2779										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGGTGCCATGGAGCTGGAAG	0.294000														15			7		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99535332	99535332	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:99535332G>A	uc001vnt.2	-	22	2581	c.2526C>T	c.(2524-2526)gcC>gcT	p.A842A	DOCK9_uc001vnw.2_Silent_p.A841A|DOCK9_uc021rlw.1_Silent_p.A841A|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.A842A|DOCK9_uc010tis.1_Silent_p.A841A|DOCK9_uc010tit.1_Silent_p.A842A|DOCK9_uc010afu.1_Silent_p.A688A	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	842	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTAAGGCTTGGGCTCCAGATT	0.378000														27			16		0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53452555	53452556	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:53452555_53452556CC>TT	uc001sbp.3	+	16	1484_1485	c.1349_1350CC>TT	c.(1348-1350)gcc>gTT	p.A450V	TENC1_uc001sbl.3_Missense_Mutation_p.A326V|TENC1_uc001sbn.3_Missense_Mutation_p.A460V|TENC1_uc001sbq.3_5'UTR|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_5'Flank	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	450					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						ACTGAGCCAGCCGTGCGCTGGG	0.639000														45			5		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513253	106513253	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:106513253C>T	uc003vdv.4	+	3	2242	c.2157C>T	c.(2155-2157)gcC>gcT	p.A719A	PIK3CG_uc003vdu.3_Silent_p.A719A|PIK3CG_uc003vdw.3_Silent_p.A719A	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	719					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTCTGGAAGCCTATCTGAGGG	0.448000														78			18		0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5406803	5406803	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:5406803G>A	uc002kmt.1	-	15	2408	c.2322C>T	c.(2320-2322)ccC>ccT	p.P774P	EPB41L3_uc010wzh.1_Silent_p.P605P|EPB41L3_uc002kmu.1_Silent_p.P593P|EPB41L3_uc010dkq.1_Silent_p.P484P|EPB41L3_uc002kms.1_Silent_p.P46P|EPB41L3_uc010wze.1_Silent_p.P46P|EPB41L3_uc010wzf.1_Silent_p.P46P|EPB41L3_uc010wzg.1_Silent_p.P46P|EPB41L3_uc010dkr.2_Silent_p.P166P	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	774	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTTCGATCATGGGGGCATCCT	0.542000														36			20		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763157	43763157	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:43763157G>A	uc002owd.4	-	3	939	c.840C>T	c.(838-840)ctC>ctT	p.L280L	PSG9_uc002owe.4_Intron|PSG9_uc010xwm.2_Silent_p.L187L|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	280	Ig-like C2-type 2.				female pregnancy	extracellular region		p.S279R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GACTGACGGGGAGGCTCTGAC	0.478000														234			67		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21011622	21011622	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:21011622G>A	uc010vbe.2	-	42	6345	c.6345C>T	c.(6343-6345)atC>atT	p.I2115I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2115	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGACATGATGATATCCTGGG	0.517000														43			23		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689114	109689114	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:109689114C>T	uc004bcz.3	+	2	3210	c.2921C>T	c.(2920-2922)tCc>tTc	p.S974F	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.S822F|ZNF462_uc004bda.3_Missense_Mutation_p.S822F	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	974					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AATACAGAATCCCAGACCCTG	0.498000														53			24		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805406	125805406	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:125805406G>A	uc001lhn.3	-	1	1057	c.323C>T	c.(322-324)tCa>tTa	p.S108L	CHST15_uc001lhm.3_Missense_Mutation_p.S108L|CHST15_uc010que.2_Missense_Mutation_p.S108L|CHST15_uc001lho.3_Missense_Mutation_p.S108L	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	108					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GAAAGGTGATGAGATCAGAAG	0.478000														71			28		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642587	104642587	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:104642587G>A	uc001yos.4	+	11	3462	c.3462G>A	c.(3460-3462)ggG>ggA	p.G1154G		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1154					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTTCCCTGGGGGATGGAAGCT	0.711000														9			4		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510193	169510193	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:169510193G>A	uc001ggg.1	-	12	4280	c.4135C>T	c.(4135-4137)Ctc>Ttc	p.L1379F		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1379	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTCTGACTGAGTTCTGGAGAG	0.527000														146			38		0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70645892	70645892	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:70645892C>T	uc001jos.2	+	2	2427	c.2340C>T	c.(2338-2340)acC>acT	p.T780T	STOX1_uc001joq.3_Silent_p.T670T|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.T670T	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	780						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GATCTCTGACCGAGTACAACA	0.468000														43			14		0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35941362	35941362	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:35941362G>A	uc002nzg.2	+	1	826	c.746G>A	c.(745-747)aGa>aAa	p.R249K	FFAR2_uc010eea.3_Missense_Mutation_p.R249K	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	249						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TATCACCAGAGAAAAAGCCCC	0.592000														69			18		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661319	77661319	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:77661319C>T	uc011cbx.2	+	4	2946	c.1993C>T	c.(1993-1995)Ctc>Ttc	p.L665F	SHROOM3_uc011cbz.1_Missense_Mutation_p.L489F|SHROOM3_uc003hkf.1_Missense_Mutation_p.L540F|SHROOM3_uc003hkg.3_Missense_Mutation_p.L443F	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	665					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTTCTCATCTCTCCAGAACAT	0.592000														77			31		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772263	4772263	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:4772263C>T	uc001alm.1	+	1	714	c.333C>T	c.(331-333)ctC>ctT	p.L111L	AJAP1_uc001aln.3_Silent_p.L111L	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	111					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGGCCGCCCTCGTGCCCAAGG	0.731000														7			9		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5687533	5687533	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:5687533G>A	uc001qnm.2	-	22	2458	c.2386_splice	c.e22+1	p.G796_splice		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	801						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGCACGTACCGATATCTTTGG	0.547000														38			25		0	0	1	0	0
PLSCR3	57048	broad.mit.edu	37	17	7296236	7296236	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7296236G>A	uc002ggn.2	-	5	1067	c.543C>T	c.(541-543)ggC>ggT	p.G181G	PLSCR3_uc002ggo.2_Silent_p.G181G|PLSCR3_uc002ggm.2_Silent_p.G181G|PLSCR3_uc002ggp.2_Silent_p.G12G|PLSCR3_uc002ggq.2_Silent_p.G12G|PLSCR3_uc010cmg.2_Silent_p.G181G|PLSCR3_uc002ggr.2_Silent_p.G181G	NM_020360	NP_065093	Q9NRY6	PLS3_HUMAN	Homo sapiens phospholipid scramblase 3 (PLSCR3), transcript variant 1, mRNA.	181					phospholipid scrambling	integral to membrane|plasma membrane	SH3 domain binding|calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				GTAGCACGTGGCCAATGGTGG	0.602000														184			52		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515323	56515323	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56515323G>A	uc002qmj.3	+	1	304	c.304G>A	c.(304-306)Gag>Aag	p.E102K	NLRP5_uc002qmi.3_Missense_Mutation_p.E102K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	102	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTTTGAAATCGAGAATGCCAA	0.423000														35			15		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661968	77661968	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:77661968C>T	uc011cbx.2	+	4	3595	c.2642C>T	c.(2641-2643)cCg>cTg	p.P881L	SHROOM3_uc011cbz.1_Missense_Mutation_p.P705L|SHROOM3_uc003hkf.1_Missense_Mutation_p.P756L|SHROOM3_uc003hkg.3_Missense_Mutation_p.P659L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	881					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCCAGAGGCCGGACGCTCGG	0.697000														21			6		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56207538	56207538	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:56207538C>T	uc021wzo.1	-	2	1225	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	ERC2_uc003dhr.1_Missense_Mutation_p.R362Q	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	362						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTGGCTTCTTCGGTGCAATTC	0.502000														34			20		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20854350	20854350	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:20854350C>T	uc010sii.2	+	3	583	c.228C>T	c.(226-228)atC>atT	p.I76I	SLCO1C1_uc010sij.2_Silent_p.I76I|SLCO1C1_uc009zip.3_Intron|SLCO1C1_uc001rei.3_Silent_p.I76I|SLCO1C1_uc010sik.2_Intron	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	76					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GGTTTGATATCCCTTCTTCAC	0.413000														54			19		0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391069	125391069	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:125391069G>A	uc011lyz.2	-	0	746	c.746C>T	c.(745-747)tCc>tTc	p.S249F		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S249P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GGTGAGGTGGGATCCACAGGT	0.542000														37			32		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147108974	147108974	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:147108974C>T	uc011bno.2	-	3	1084	c.898G>A	c.(898-900)Gac>Aac	p.D300N	ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Missense_Mutation_p.D180N|ZIC4_uc021xff.1_Missense_Mutation_p.D288N|ZIC4_uc003ewd.2_Missense_Mutation_p.D250N|ZIC4_uc021xfg.1_Missense_Mutation_p.D44N	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	250						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TTCTTACGGTCGCTGCTGTTG	0.612000														31			5		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200956195	200956195	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:200956195G>A	uc001gvs.2	-	24	3860	c.3543C>T	c.(3541-3543)ttC>ttT	p.F1181F	KIF21B_uc009wzl.2_Silent_p.F1181F|KIF21B_uc001gvr.2_Silent_p.F1181F|KIF21B_uc010ppn.2_Silent_p.F1181F	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1181					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCGGACAGAGAAGCCCACTC	0.602000														75			56		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739047	119739047	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:119739047G>A	uc002tln.1	+	8	961	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	MARCO_uc010yyf.1_Missense_Mutation_p.G199R	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	277	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGGAGCCCAGGGGAGTAAAGG	0.522000														17			9		0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538558	31538558	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:31538558G>A	uc011acv.2	-	0	414	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	126					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.L125L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CCGTCAGGATGAAGAGGACTC	0.512000														65			29		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10314238	10314238	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:10314238G>A	uc002gmm.2	-	14	1538	c.1443C>T	c.(1441-1443)atC>atT	p.I481I	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	481	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGTGAAGTTGATGCACAGCT	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					65			20		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910162	139910162	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:139910162C>T	uc004ckm.1	-	22	3616	c.3566G>A	c.(3565-3567)cGc>cAc	p.R1189H	ABCA2_uc022bpy.1_Missense_Mutation_p.R1090H|ABCA2_uc022bpz.1_Missense_Mutation_p.R1160H|ABCA2_uc011mem.1_Missense_Mutation_p.R1159H|ABCA2_uc004ckl.1_Missense_Mutation_p.R1090H|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1159	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCAGATGGCGCGGCGCGCGTA	0.711000														10			7		0	0	1	0	0
IGLL5	100423062	broad.mit.edu	37	22	23235932	23235932	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:23235932G>A	uc021wmq.1	+	1	536	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|IGLL5_uc011aiw.2_Missense_Mutation_p.G87R|IGLL5_uc010gtu.2_Intron|IGLL5_uc021wmr.1_5'Flank	NM_001178126	NP_001171597	B9A064	IGLL5_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 5 (IGLL5), transcript variant 1, mRNA.	87						extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CTGGCCCCGGGGGTTTTGGTC	0.632000														7			17		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5729476	5729476	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5729476C>T	uc001mbr.3	+	5	1226	c.847C>T	c.(847-849)Ctg>Ttg	p.L283L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Silent_p.L251L|TRIM22_uc010qzm.2_Silent_p.L111L|TRIM22_uc009yes.3_Silent_p.L279L|OR56B1_uc001mbs.1_5'UTR|OR56B1_uc009yev.1_5'UTR	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	283	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.L283L(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGTACCAGATCTGAGTGGGAT	0.423000														47			13		0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225742694	225742694	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:225742694C>T	uc001hpc.1	-	2	716	c.263G>A	c.(262-264)gGt>gAt	p.G88D	ENAH_uc021pju.1_Missense_Mutation_p.G75D|ENAH_uc001hpd.1_Missense_Mutation_p.G88D	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	88	WH1.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		AAAGTTGAGACCATACACCTG	0.453000														19			17		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68215353	68215353	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:68215353G>A	uc001xka.2	-	41	7559	c.7420C>T	c.(7420-7422)Cgg>Tgg	p.R2474W	ZFYVE26_uc010tsz.1_Non-coding_Transcript	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	2474					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGTAGGCCCGAACCTGGCAG	0.532000														24			4		0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136516866	136516866	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:136516866G>A	uc004cel.3	+	6	1311	c.1302G>A	c.(1300-1302)gtG>gtA	p.V434V		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	434					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGGAGATCGTGAACCAGGACA	0.637000														6			6		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255960	15255960	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:15255960G>A	uc001iob.3	-	7	1634	c.1627C>T	c.(1627-1629)Cga>Tga	p.R543*		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	543						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCTACTGATCGCGACATCATA	0.537000														128			23		0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058673	67058673	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:67058673C>T	uc003dmy.3	+	3	1723	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	KBTBD8_uc011bfv.2_Missense_Mutation_p.S115F	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	557										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGAAAAAATTCCCTTTACCAA	0.433000														76			42		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28644644	28644644	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:28644644G>A	uc001urw.3	-	1	231	c.149C>T	c.(148-150)tCa>tTa	p.S50L	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.S50L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	50					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)	ATATGATGATGACTTCCCCAC	0.328000			"""Mis, O"""		"""AML, ALL"""									41			13		0	0	1	0	0
AGAP8	728404	broad.mit.edu	37	10	48902150	48902150	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:48902150G>A	uc009xnv.2	-	2	829	c.723C>T	c.(721-723)atC>atT	p.I241I	DQ588224_uc001jga.2_5'Flank	NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 (AGAP8), mRNA.	419					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						GGCTGGCCAGGATCTGGCTCT	0.567000														146			23		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64483850	64483850	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:64483850C>T	uc003jtp.3	-	21	3717	c.2903G>A	c.(2902-2904)tGg>tAg	p.W968*	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	968	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TACCTCAGACCAGTCCAAAGC	0.443000														83			38		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299163	125299163	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:125299163C>T	uc004euk.2	-	0	918	c.745G>A	c.(745-747)Gat>Aat	p.D249N		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	249										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCTCCACATCCCTCGGACGG	0.632000														12			15		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92441921	92441921	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:92441921C>T	uc001dol.4	+	5	962	c.544C>T	c.(544-546)Cct>Tct	p.P182S	BRDT_uc010osz.2_Missense_Mutation_p.P186S|BRDT_uc001dok.4_Missense_Mutation_p.P182S|BRDT_uc009wdf.3_Missense_Mutation_p.P109S|BRDT_uc010otb.2_Missense_Mutation_p.P136S|BRDT_uc010ota.2_Missense_Mutation_p.P136S|BRDT_uc001dom.4_Missense_Mutation_p.P182S	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCTGTATTTCCTAAGACATC	0.393000														36			13		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089267	10089267	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:10089267C>T	uc002mmq.1	-	40	3087	c.3001G>A	c.(3001-3003)Ggg>Agg	p.G1001R		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1001	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCACGGGCCCTGGGGGGCCC	0.542000														16			19		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825332	74825332	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:74825332C>T	uc021rwl.1	+	0	1846	c.1846C>T	c.(1846-1848)Cag>Tag	p.Q616*	VRTN_uc001xpw.4_Nonsense_Mutation_p.Q616*	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	616					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGCCACAGCCCAGGGCCAGCC	0.657000														25			6		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35776358	35776358	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:35776358G>A	uc003jjo.3	+	29	4190	c.4079_splice	c.e29-1	p.E1360_splice	SPEF2_uc003jjp.1_Splice_Site_p.E846_splice|SPEF2_uc003jjr.3_Splice_Site	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1360					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)			TTTGCAAATAGAAATAGCCAC	0.338000														35			15		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835477	61835477	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61835477G>A	uc001jky.3	-	36	5500	c.5162C>T	c.(5161-5163)tCc>tTc	p.S1721F	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1721	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTAGAGGGGAAATAGATCC	0.408000														64			4		0	0	1	0	0
PGAP2	27315	broad.mit.edu	37	11	3838601	3838601	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:3838601T>A	uc010qxw.2	+	3	380	c.355T>A	c.(355-357)Ttc>Atc	p.F119I	PGAP2_uc001lyl.3_Intron|PGAP2_uc010qxy.2_Intron|PGAP2_uc001lyn.4_Intron|PGAP2_uc010qya.2_Intron|PGAP2_uc010qyb.2_Intron|PGAP2_uc001lys.3_Missense_Mutation_p.F62I|PGAP2_uc001lyt.3_Intron|PGAP2_uc021qcm.1_Intron	NM_014489	NP_055304	Q9UHJ9	PGAP2_HUMAN	Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA.	62					GPI anchor biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						CTGCAGGATGTTCTCTGCGGC	0.602000														72			62		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779778	36779778	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:36779778G>A	uc003cgi.2	-	1	864	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	125						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACCCCAAGATGCTTCTCT	0.572000														132			68		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539409	56539409	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56539409G>A	uc002qmj.3	+	6	1810	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	NLRP5_uc002qmi.3_Missense_Mutation_p.E585K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	604						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGAAATCGAGCCAGCTCT	0.522000														25			14		0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98307605	98307605	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:98307605T>C	uc003dsx.3	-	3	1012	c.905A>G	c.(904-906)gAg>gGg	p.E302G		NM_000097	NP_000088	P36551	HEM6_HUMAN	Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.	302						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTCACAAGCCTCCTTCAGAGT	0.433000														42			23		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163059452	163059452	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:163059452C>T	uc002ucd.3	-	14	1361	c.1153_splice	c.e14-1	p.E385_splice	FAP_uc010zct.2_Splice_Site_p.E360_splice	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	385					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATAGCATTTTCCTATAAAAAG	0.378000														48			27		0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446318	29446318	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:29446318C>T	uc003aeg.3	+	7	2149	c.2149C>T	c.(2149-2151)Cag>Tag	p.Q717*	ZNRF3_uc021wnq.1_Nonsense_Mutation_p.Q617*	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	717						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CTGCGAGCCCCAGCCCTCCCC	0.726000														5			4		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56573634	56573634	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:56573634G>A	uc002iwj.2	-	15	1979	c.1869C>T	c.(1867-1869)ccC>ccT	p.P623P		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	623						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TACGAGTCAGGGGGCTGCTTG	0.512000														36			22		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41452168	41452168	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:41452168C>T	uc002yyq.1	-	24	4783	c.4331G>A	c.(4330-4332)gGg>gAg	p.G1444E	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.	1444	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATACCAAGTCCCACATTTGAG	0.483000														56			42		0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195020	3195020	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:3195020G>A	uc002fvh.1	-	0	857	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GTTCAGCATGGGATTGATGAC	0.463000														52			37		0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116862019	116862019	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:116862019T>G	uc003vin.3	+	14	1755	c.1541T>G	c.(1540-1542)tTc>tGc	p.F514C	ST7_uc011knl.2_Missense_Mutation_p.F491C|ST7_uc003vio.3_Missense_Mutation_p.F491C|ST7_uc003viq.3_Missense_Mutation_p.F468C|ST7_uc011knm.2_Missense_Mutation_p.F471C|ST7_uc003vir.3_Missense_Mutation_p.F434C	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	514						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GAGCTTCCCTTCTTTATTCTC	0.483000														63			19		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3653729	3653729	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:3653729C>A	uc002fwo.4	-	15	2040	c.1941G>T	c.(1939-1941)atG>atT	p.M647I		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	647					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGCCATGGACATGCCGAAGT	0.632000														40			9		0.000274275	0.000275242	1	1	0
AFAP1L1	134265	broad.mit.edu	37	5	148682047	148682048	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:148682047_148682048CC>TT	uc003lqh.3	+	4	525_526	c.394_395CC>TT	c.(394-396)cct>TTt	p.P132F	AFAP1L1_uc003lqg.4_Missense_Mutation_p.P132F|AFAP1L1_uc010jgy.3_Missense_Mutation_p.P132F	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	132							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGCCCTTCCTCTGGGACCC	0.599000														8			6		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6066641	6066641	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:6066641C>T	uc010idb.1	-	8	1883	c.1397G>A	c.(1396-1398)aGg>aAg	p.R466K	JAKMIP1_uc010idc.1_Missense_Mutation_p.R281K|JAKMIP1_uc010idd.1_Missense_Mutation_p.R466K|JAKMIP1_uc003giu.4_Missense_Mutation_p.R466K|JAKMIP1_uc011bwc.2_Missense_Mutation_p.R301K|JAKMIP1_uc003giv.4_Missense_Mutation_p.R466K|JAKMIP1_uc010ide.3_Missense_Mutation_p.R466K	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	466	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCTGGGGTCCTGTCTGTCCT	0.532000														23			12		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41419868	41419868	+	Silent	SNP	G	A	A	rs140340339		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:41419868G>A	uc002xkg.3	-	2	637	c.453C>T	c.(451-453)ctC>ctT	p.L151L	PTPRT_uc010ggj.3_Silent_p.L151L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	151	MAM.				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.L151L(4)		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)				TGCTGATGGCGAGCTCTGCCT	0.488000														86			56		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145862240	145862240	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:145862240C>T	uc003lob.3	+	12	2012	c.1972C>T	c.(1972-1974)Cct>Tct	p.P658S	TCERG1_uc003loc.3_Missense_Mutation_p.P637S	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	658					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCATTGTCCCTCTGGAGGC	0.408000														24			13		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57081173	57081173	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:57081173G>A	uc001njr.3	-	3	1301	c.989C>T	c.(988-990)cCc>cTc	p.P330L	TNKS1BP1_uc001njs.3_Missense_Mutation_p.P330L|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	330	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGCGGGGCAGGGAGAAGCCTG	0.662000														9			6		0	0	1	0	0
NIPAL2	79815	broad.mit.edu	37	8	99208210	99208210	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:99208210G>A	uc003yim.1	-	8	1160	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F	NIPAL2_uc011lgw.1_Missense_Mutation_p.L98F|NIPAL2_uc003yil.1_Missense_Mutation_p.L302F			Q9H841	NPAL2_HUMAN	Homo sapiens NIPA-like domain containing 2 (NIPAL2), mRNA.	302						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						GGAGCACCAAGGAATTCCTGA	0.289000														36			18		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994042	140994042	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:140994042C>T	uc004fbt.3	+	3	1176	c.852C>T	c.(850-852)ttC>ttT	p.F284F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	284							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCTTTTCCAGAGTTCCC	0.493000										HNSCC(15;0.026)				47			74		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936441	4936441	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4936441C>T	uc001lzr.1	-	0	453	c.453G>A	c.(451-453)ctG>ctA	p.L151L		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGAGAGACCAGGCCAATCC	0.473000														29			33		0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889905	89889905	+	RNA	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:89889905G>A	uc009wcy.1	+	4		c.646G>A								Homo sapiens guanylate binding protein 1, interferon-inducible pseudogene 1 (GBP1P1), non-coding RNA.																		TGGAACAGAAGGAGAGGAGTT	0.473000														325			72		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58240870	58240870	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:58240870T>G	uc001vhq.1	+	2	3592	c.2700T>G	c.(2698-2700)agT>agG	p.S900R	PCDH17_uc010aec.1_Missense_Mutation_p.S899R|PCDH17_uc001vhr.1_5'UTR	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	900					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGGCTGACAGTGACCAAGACA	0.463000														52			25		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141208161	141208161	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:141208161C>T	uc002tvj.1	-	62	11005	c.10033G>A	c.(10033-10035)Gga>Aga	p.G3345R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3345	LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3345R(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCAGATCCATCACCACAG	0.348000										TSP Lung(27;0.18)				35			26		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52573626	52573626	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:52573626G>A	uc001jjj.3	-	9	1526	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	A1CF_uc010qho.2_Silent_p.L454L|A1CF_uc010qhn.2_Silent_p.L446L|A1CF_uc009xov.3_Silent_p.L438L|A1CF_uc001jji.3_Silent_p.L438L|A1CF_uc001jjh.3_Silent_p.L446L	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	446					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTGGGGAGCGAGTTTAATTC	0.388000														36			37		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106733284	106733284	+	RNA	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:106733284C>T	uc021ser.1	-	876		c.21262G>A								Parts of antibodies, mostly variable regions.																		TCTTCAGGATCAAAACCTCCC	0.522000														134			45		0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34396305	34396305	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:34396305C>T	uc001zho.3	+	0	2032	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	525										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AAGACATTTCCCCAAGAGCAT	0.502000														23			18		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81142814	81142814	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:81142814G>A	uc002fgh.1	-	42	7065	c.7065C>T	c.(7063-7065)atC>atT	p.I2355I	PKD1L2_uc002fgf.1_Silent_p.I157I|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2357	Channel pore-region.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CGTAGTTGAAGATTCCCAGCT	0.522000														3			6		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22942280	22942280	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:22942280A>C	uc021urt.1	-	3	586	c.431T>G	c.(430-432)aTa>aGa	p.I144R		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACACTGAAATATTTTTCCCTG	0.284000														44			14		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633493	70633493	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:70633493C>T	uc001xly.3	-	1	2401	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E	SLC8A3_uc001xlw.3_Silent_p.E549E|SLC8A3_uc001xlx.3_Silent_p.E549E|SLC8A3_uc001xlz.3_Silent_p.E549E|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	549	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAACCTTGACCTCCATAACAC	0.498000														29			29		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21727167	21727167	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:21727167G>A	uc001rfb.3	-	3	844	c.589C>T	c.(589-591)Cct>Tct	p.P197S		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	197					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGGCAATAGGAAGTTTCCTG	0.418000														27			18		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39504009	39504009	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:39504009C>T	uc003thb.2	+	10	1943	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	POU6F2_uc022acb.1_Silent_p.I564I	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	600					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCGAGTTTATCGGGAGTGAAC	0.572000														26			5		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34190205	34190205	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:34190205G>A	uc001bxm.1	-	17	2973	c.2796C>T	c.(2794-2796)agC>agT	p.S932S	CSMD2_uc001bxn.1_Silent_p.S892S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	892	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCGAGTCACAGCTGAAGGTCA	0.572000														55			12		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234526965	234526965	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:234526965G>A	uc002vup.3	+	0	675	c.612G>A	c.(610-612)aaG>aaA	p.K204K	UGT1A1_uc010zmv.1_Silent_p.K204K	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	207					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGACTTTCAAGGAGAGAGTAC	0.438000														149			113		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154055907	154055907	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:154055907G>A	uc003faa.3	-	3	1877	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	593						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTTTTGGATCGATAGACTTCT	0.418000														88			41		0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178391810	178391810	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:178391810C>T	uc003mjo.2	+	4	706	c.405C>T	c.(403-405)atC>atT	p.I135I	ZNF454_uc010jkz.2_Silent_p.I135I|ZNF454_uc021yjc.1_Silent_p.I135I	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GCCAGGAGATCAGTTTGCAGC	0.483000														42			21		0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159175263	159175264	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:159175263_159175264CC>TT	uc001ftp.4	+	0	215_216	c.40_41CC>TT	c.(40-42)ccc>TTc	p.P14F	DARC_uc001fto.3_Missense_Mutation_p.P12F	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	12					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGAGCTCTCCCCCTCAACTGAG	0.540000														32			22		0	0	1	0	0
VSX2	338917	broad.mit.edu	37	14	74726430	74726430	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:74726430C>T	uc001xpq.3	+	3	795	c.705C>T	c.(703-705)tcC>tcT	p.S235S		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	235	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		TGCCCGAGTCCATCCTCAAGT	0.652000														28			29		0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73030423	73030423	+	Silent	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:73030423G>T	uc003tyn.1	-	1	426	c.378C>A	c.(376-378)atC>atA	p.I126I	MLXIPL_uc003tyk.1_Silent_p.I126I|MLXIPL_uc003tym.1_Silent_p.I126I|MLXIPL_uc003tyl.1_Silent_p.I126I|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.I126I	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	126					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGCCCTCCAGATGGCGTTGT	0.582000														47			25		2.48779e-11	2.51174e-11	1	1	0
USP29	57663	broad.mit.edu	37	19	57640962	57640962	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:57640962C>T	uc002qny.3	+	3	1275	c.919C>T	c.(919-921)Cca>Tca	p.P307S	USP29_uc021vci.1_Missense_Mutation_p.P307S	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	307					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTTGCAATTCCATCTTTTGC	0.443000														42			32		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373880	138373880	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:138373880C>T	uc002tva.1	+	16	3469	c.3469C>T	c.(3469-3471)Cta>Tta	p.L1157L	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCAGTACAATCTAACAGGTAC	0.423000														112			30		0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3355764	3355764	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:3355764C>T	uc002wii.2	-	4	469	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	C20orf194_uc002wik.2_5'UTR|C20orf194_uc010gay.1_Non-coding_Transcript	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	140										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GCGGCTTCTTCATCTTCATAC	0.388000														111			57		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67194967	67194967	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:67194967G>A	uc001dcr.3	+	19	1980	c.1763G>A	c.(1762-1764)gGa>gAa	p.G588E	SGIP1_uc010opd.2_Missense_Mutation_p.G188E|SGIP1_uc001dcs.3_Missense_Mutation_p.G188E|SGIP1_uc001dct.3_Missense_Mutation_p.G190E|SGIP1_uc009wat.3_Missense_Mutation_p.G382E|SGIP1_uc001dcu.3_Missense_Mutation_p.G93E	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	588					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAGATTACCGGAGAAATGGTG	0.423000														47			15		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822398	26822398	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:26822398G>A	uc001iss.3	+	8	1165	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	APBB1IP_uc009xks.1_Missense_Mutation_p.E282K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	282					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGGAAAAAAAGAAAGCAAGGA	0.343000														25			9		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591572	46591572	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:46591572G>A	uc009zkj.1	-	15	1978	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	SLC38A1_uc001rpb.3_Silent_p.F431F|SLC38A1_uc001rpc.3_Silent_p.F431F|SLC38A1_uc001rpd.3_Silent_p.F431F|SLC38A1_uc001rpe.3_Silent_p.F431F|SLC38A1_uc001rpa.3_Silent_p.F431F	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	431					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AAGGAAGAATGAAAATAAGCA	0.353000														34			26		0	0	1	0	0
ECHDC2	55268	broad.mit.edu	37	1	53370377	53370377	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:53370377C>T	uc001cup.4	-	6	889	c.643G>A	c.(643-645)Gag>Aag	p.E215K	ECHDC2_uc001cun.3_Missense_Mutation_p.E138K|ECHDC2_uc001cuo.4_Missense_Mutation_p.E184K|ECHDC2_uc021onl.1_Missense_Mutation_p.E184K|ECHDC2_uc010onk.2_Missense_Mutation_p.E169K	NM_001198961	NP_001185890	Q86YB7	ECHD2_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 2 (ECHDC2), transcript variant 1, mRNA.	215					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TCCCCCTCCTCGTTCTGGGCC	0.667000														33			10		0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179096507	179096507	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:179096507C>T	uc003fjt.3	+	12	1658	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S	MFN1_uc003fjs.3_Missense_Mutation_p.P523S|MFN1_uc010hxb.3_Non-coding_Transcript|MFN1_uc010hxc.3_Intron	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	523					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TATTGTATTTCCTTTTTCCCT	0.388000														45			18		0	0	1	0	0
BC007817	0	broad.mit.edu	37	19	36159310	36159310	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:36159310G>A	uc002oax.1	-	1	335	c.237C>T	c.(235-237)gcC>gcT	p.A79A	UPK1A_uc002oaw.3_Intron|UPK1A_uc010eeh.3_Intron					Homo sapiens cDNA clone IMAGE:4300770.																		CTGGTGCCAGGGCTGCTGGCC	0.607000														13			7		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126747078	126747078	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:126747078G>C	uc003ejg.3	+	23	4564	c.4564G>C	c.(4564-4566)Ggg>Cgg	p.G1522R	PLXNA1_uc003ejh.3_Missense_Mutation_p.G167R	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1522					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCCGGTGAAGGGGCTGGACTG	0.652000														27			14		0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953993	161953993	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:161953993G>A	uc010pkq.2	-	7	2152	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	OLFML2B_uc001gbt.3_Silent_p.F58F|OLFML2B_uc001gbu.3_Silent_p.F575F	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	575	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GATTGTAGTAGAAGGCGCCAT	0.587000														49			7		0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754644	167754644	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:167754644G>A	uc003qvs.1	+	2	1344	c.1256G>A	c.(1255-1257)gGt>gAt	p.G419D		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	419	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TACTTAAATGGTCTAAGAAAT	0.443000														21			32		0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48073661	48073661	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:48073661C>T	uc003gxx.4	-	13	1474	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Missense_Mutation_p.G150E	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	463	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AGGCATTTTTCCTTCTGTAAA	0.383000														51			29		0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777860	44777860	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:44777860G>A	uc021uvi.1	+	4	1153	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Silent_p.R164R|ZNF233_uc002oyz.2_Silent_p.R349R	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TATATGCCCGGAGCTCCAACC	0.527000														33			8		0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636526	42636526	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:42636526G>A	uc002igx.2	+	0	1715	c.1470G>A	c.(1468-1470)tgG>tgA	p.W490*		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	490					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGAGCACTGGGAGCGCTCGT	0.642000														11			11		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38950197	38950197	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:38950197G>A	uc002hvh.1	-	5	1146	c.1080C>T	c.(1078-1080)caC>caT	p.H360H		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	360	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCTGACCTGGTGCAGCTGCT	0.572000														50			76		0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75250454	75250454	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:75250454C>T	uc003hie.1	+	4	605	c.439C>T	c.(439-441)Cga>Tga	p.R147*		NM_001432	NP_001423	O14944	EREG_HUMAN	Homo sapiens epiregulin (EREG), mRNA.	147	Arg/Lys-rich (basic).		R -> Q (in dbSNP:rs35275884).		angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of DNA replication|positive regulation of cell division|positive regulation of cytokine production|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	p.R147R(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			GTACAGAAATCGAAAAAGTAA	0.418000														28			11		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43492290	43492290	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:43492290G>A	uc002lbm.3	-	21	4048	c.3948C>T	c.(3946-3948)ttC>ttT	p.F1316F	EPG5_uc002lbo.1_Silent_p.F1316F|EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_5'UTR|EPG5_uc002lbn.2_Silent_p.F191F	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1316					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GATACAGAAGGAAGAACTTCT	0.527000														47			9		0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97246961	97246961	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:97246961C>T	uc010kcl.3	-	2	1125	c.647G>A	c.(646-648)gGa>gAa	p.G216E	GPR63_uc003pou.3_Missense_Mutation_p.G216E|GPR63_uc021zcy.1_Missense_Mutation_p.G216E	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	216						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTCGGGGTTTCCTACGGCTAA	0.463000														32			43		0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38678044	38678044	+	Missense_Mutation	SNP	C	T	T	rs140200190		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:38678044C>T	uc010lwp.3	+	2	1661	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S	TACC1_uc011lby.1_Missense_Mutation_p.P233S|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Missense_Mutation_p.P383S|TACC1_uc003xlz.3_Missense_Mutation_p.P233S|TACC1_uc003xmc.4_Missense_Mutation_p.P233S|TACC1_uc011lbz.2_Missense_Mutation_p.P444S|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Missense_Mutation_p.P428S|TACC1_uc011lcb.2_Missense_Mutation_p.P233S|TACC1_uc011lcc.2_Missense_Mutation_p.P233S|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_Missense_Mutation_p.P233S|TACC1_uc010lwq.3_Missense_Mutation_p.P233S	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	428	SPAZ 2.			P -> H (in Ref. 6; AAH41391).	cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ATCCATGGATCCCTTTAAACC	0.478000														173			81		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26677682	26677682	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:26677682G>T	uc001mqt.4	+	24	2732	c.2587G>T	c.(2587-2589)Gga>Tga	p.G863*	ANO3_uc010rdr.2_Nonsense_Mutation_p.G847*|ANO3_uc010rds.2_Nonsense_Mutation_p.G702*|ANO3_uc010rdt.2_Nonsense_Mutation_p.G717*	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	863						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTGCTTGAAGGGATATGTCAA	0.348000														56			21		1.55469e-16	1.57444e-16	1	1	0
TUFT1	7286	broad.mit.edu	37	1	151536460	151536461	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:151536460_151536461CC>TT	uc010pdf.2	+	4	519_520	c.375_376CC>TT	c.(373-378)atccag>atTTag	p.Q126*	TUFT1_uc001eyl.3_Nonsense_Mutation_p.Q107*|TUFT1_uc001eym.3_Nonsense_Mutation_p.Q82*|TUFT1_uc010pdg.2_Nonsense_Mutation_p.Q55*			Q9NNX1	TUFT1_HUMAN	Homo sapiens tuftelin 1 (TUFT1), transcript variant 1, mRNA.	107					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCAGTACATCCAGGAGGTGGG	0.446000														34			16		0	0	1	0	0
DNAJA4	55466	broad.mit.edu	37	15	78567973	78567973	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:78567973C>T	uc002bdi.3	+	5	1036	c.867C>T	c.(865-867)atC>atT	p.I289I	DNAJA4_uc002bdj.2_Silent_p.I260I|DNAJA4_uc002bdk.3_Silent_p.I233I|DNAJA4_uc002bdm.2_Silent_p.I44I	NM_018602	NP_001123654	Q8WW22	DNJA4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 4 (DNAJA4), transcript variant 1, mRNA.	260					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						ATGACTTGATCATGAAAATGA	0.413000														38			13		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476702	140476702	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140476702C>T	uc003lil.3	+	0	2466	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	PCDHB2_uc003lim.1_Silent_p.F437F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	776					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCGTTGCTCAGG	0.507000														64			24		0	0	1	0	0
LSP1	4046	broad.mit.edu	37	11	1908751	1908751	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:1908751G>A	uc001lui.3	+	9	1153	c.978G>A	c.(976-978)ggG>ggA	p.G326G	LSP1_uc001luj.3_Silent_p.G454G|LSP1_uc001luk.3_Silent_p.G264G|LSP1_uc001lul.3_Silent_p.G264G|LSP1_uc001lum.3_Silent_p.G264G	NM_002339	NP_001013273	P33241	LSP1_HUMAN	Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 1, mRNA.	326					cellular component movement|cellular defense response	Golgi apparatus|actin cytoskeleton|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		CCGGGCATGGGAAGTATGAGA	0.567000														60			50		0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75438621	75438621	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:75438621C>T	uc010rru.2	+	2	412	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	MOGAT2_uc001oww.1_Missense_Mutation_p.H138Y|MOGAT2_uc010rrv.2_Missense_Mutation_p.H56Y	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	138					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TATCCGCCCCCATCTGATGAT	0.572000														86			54		0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465876	24465876	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:24465876C>T	uc010tcw.2	-	2	574	c.554G>A	c.(553-555)gGa>gAa	p.G185E	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Missense_Mutation_p.P44S|C1QTNF9B-AS1_uc009zzx.3_Missense_Mutation_p.P53S|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.G185E	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	185	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCCTCGATCTCCTTTCCAGCC	0.567000														69			15		0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87060883	87060883	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:87060883G>A	uc011lfy.2	-	2	966	c.966C>T	c.(964-966)acC>acT	p.T322T		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	322							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CTGCAGCCATGGTGATCACCC	0.547000														69			33		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817382	45817382	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:45817382C>T	uc011bai.2	-	3	577	c.453G>A	c.(451-453)agG>agA	p.R151R	SLC6A20_uc011baj.2_Silent_p.R151R	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	151					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TGAGGGTTTTCCTGTACCAGA	0.607000														107			53		0	0	1	0	0
TMEM48	55706	broad.mit.edu	37	1	54269674	54269674	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:54269674G>A	uc001cvs.3	-	9	1284	c.993C>T	c.(991-993)gcC>gcT	p.A331A	TMEM48_uc010onu.2_Silent_p.A291A|TMEM48_uc001cvt.3_Silent_p.A208A|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	331					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						GGTCCTGCAAGGCTAAATACT	0.343000														69			46		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69902756	69902756	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:69902756G>A	uc001jnm.4	+	3	1147	c.962G>A	c.(961-963)gGa>gAa	p.G321E	MYPN_uc001jnl.1_Missense_Mutation_p.G321E|MYPN_uc001jnn.4_Missense_Mutation_p.G46E|MYPN_uc001jno.4_Missense_Mutation_p.G321E|MYPN_uc001jnp.1_Missense_Mutation_p.G321E|MYPN_uc009xps.3_Missense_Mutation_p.G321E|MYPN_uc009xpt.3_Missense_Mutation_p.G321E|MYPN_uc010qit.2_Missense_Mutation_p.G27E|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	321	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GTCCAGGCAGGAAATCTGCAC	0.473000														48			16		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15547879	15547879	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:15547879G>A	uc002nbb.4	-	2	481	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	879						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CCCGTGTGTCGAAGCCAGCCC	0.632000														26			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730414	140730414	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140730414C>T	uc003ljo.2	+	0	587	c.587C>T	c.(586-588)cCt>cTt	p.P196L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.P196L	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	199	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAAAAACCTCTAGACAGG	0.483000														110			46		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132002745	132002745	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:132002745C>T	uc003ytd.4	-	1	1260	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	ADCY8_uc010mds.3_Missense_Mutation_p.G335E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	335					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GATGAAGATTCCAGCTGTGTT	0.507000										HNSCC(32;0.087)				117			58		0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20166532	20166532	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:20166532C>T	uc002rdi.3	-	9	1255	c.1147G>A	c.(1147-1149)Gga>Aga	p.G383R	WDR35_uc002rdj.3_Missense_Mutation_p.G383R|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	383										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAAATCTCCACAGGTAGTA	0.373000														32			7		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093756	69093756	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:69093756G>A	uc003hdw.4	-	9	1260	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	375	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						GATATTTCTGGAATCAGGGTA	0.383000														22			4		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237759	56237759	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:56237759G>A	uc010rjk.2	-	0	256	c.215C>T	c.(214-216)tCt>tTt	p.S72F	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	72					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)					GACATTGGAAGAAAACCACAC	0.378000														42			26		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75309467	75309467	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:75309467G>A	uc004aiz.1	+	6	613	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	TMC1_uc010moz.1_Missense_Mutation_p.E25K|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_5'UTR|TMC1_uc010mpa.1_5'UTR	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	25	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AGGTGAAGAGGAAGAGGAGGT	0.413000														18			8		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284446	130284447	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:130284446_130284447CC>TT	uc001qgg.4	-	4	1903_1904	c.1545_1546GG>AA	c.(1543-1548)gaggag>gaAAag	p.E516K	ADAMTS8_uc001qgf.3_5'Flank	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	516	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCCACTTCCTCCTCAGGTAGAC	0.629000														26			31		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7989454	7989454	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7989454G>A	uc002gjy.1	-	1	493	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	78	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGGTCCTTGGGGAAGAAGGCG	0.592000										Multiple Myeloma(8;0.094)				34			13		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326252	152326252	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152326252G>A	uc001ezw.4	-	2	4083	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1337							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGTTCTGGAACCTGTCTG	0.488000														128			43		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860660	16860660	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:16860660C>T	uc002neu.4	+	5	1629	c.1207C>T	c.(1207-1209)Cct>Tct	p.P403S	NWD1_uc002net.4_Missense_Mutation_p.P268S|NWD1_uc002nev.4_Missense_Mutation_p.P197S|NWD1_uc021uqg.1_Missense_Mutation_p.P268S	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	403	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCTTGCCCCCTGCCCAGGT	0.607000														35			3		0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39406415	39406415	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:39406415G>A	uc010fal.2	-	7	840	c.840C>T	c.(838-840)ctC>ctT	p.L280L	CDKL4_uc002rrm.3_Silent_p.L280L	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA.	280	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				AGCTCTCCAGGAGTTGGGAAC	0.433000														54			8		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43896073	43896073	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:43896073C>T	uc010skx.2	-	3	749	c.749G>A	c.(748-750)aGg>aAg	p.R250K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	250						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACGTTTTTTCCTGGAATGTCT	0.323000														33			16		0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69111310	69111310	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:69111310G>A	uc003dno.3	-	9	734	c.714C>T	c.(712-714)acC>acT	p.T238T	UBA3_uc003dnq.3_Silent_p.T224T|UBA3_uc011bfy.2_Silent_p.T61T|UBA3_uc011bfz.2_Silent_p.T61T	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	238					protein neddylation|proteolysis	nucleus	ATP binding|acid-amino acid ligase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TAGATGCAATGGTGCACATGG	0.368000														70			33		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	7	38304989	38304989	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:38304989C>T	uc003tge.1	-	4	1095	c.718G>A	c.(718-720)Gga>Aga	p.G240R	ARPP21_uc022aby.1_Missense_Mutation_p.G36R|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_Missense_Mutation_p.G36R|ARPP21_uc003tgc.1_Missense_Mutation_p.G36R|ARPP21_uc003tgd.1_Missense_Mutation_p.G36R|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGATCAACTCCGTTTTTATTA	0.363000														23			30		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172348180	172348180	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:172348180A>G	uc001gie.3	+	17	2092	c.1916A>G	c.(1915-1917)cAa>cGa	p.Q639R	DNM3_uc001gif.3_Missense_Mutation_p.Q635R|DNM3_uc001gih.1_5'UTR	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	645					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAGAATGGACAAGCAGAAAAC	0.383000														19			11		0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82126470	82126470	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:82126470G>A	uc001kca.1	+	4	677	c.297G>A	c.(295-297)acG>acA	p.T99T	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Silent_p.T99T	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	99							protein binding	p.T99M(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CTGTTTCCACGAAGAAGACCA	0.423000														109			30		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304414	10304414	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:10304414G>A	uc002gmm.2	-	24	3298	c.3203C>T	c.(3202-3204)tCc>tTc	p.S1068F	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1068					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						ATCCATTGTGGATTCTTGGGC	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					52			12		0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879239	209879239	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:209879239G>A	uc001hhj.3	+	2	304	c.172G>A	c.(172-174)Gga>Aga	p.G58R	HSD11B1_uc021pin.1_Missense_Mutation_p.G58R|HSD11B1_uc001hhk.3_Missense_Mutation_p.G58R	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	58					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GGCGAAGATGGGAGCCCATGT	0.507000														41			28		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510698	5510698	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5510698C>T	uc010qzg.2	+	0	784	c.762C>T	c.(760-762)ttC>ttT	p.F254F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGTTTTCTACATCCCTG	0.507000														79			76		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5905957	5905957	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:5905957C>T	uc010qzs.2	+	0	435	c.435C>T	c.(433-435)atC>atT	p.I145I	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I145I(2)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCAGTATCCTAGCTTCTG	0.453000														141			39		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11592929	11592929	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:11592929G>A	uc002gne.3	+	19	3858	c.3790G>A	c.(3790-3792)Gag>Aag	p.E1264K	DNAH9_uc010coo.3_Missense_Mutation_p.E558K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1264	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGCACATCGAGATCCAGCA	0.493000														80			14		0	0	1	0	0
TSPAN15	23555	broad.mit.edu	37	10	71255444	71255444	+	Splice_Site	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:71255444A>G	uc001jpo.1	+	4	578	c.453_splice	c.e4+1	p.K151_splice		NM_012339	NP_036471	O95858	TSN15_HUMAN	Homo sapiens tetraspanin 15 (TSPAN15), mRNA.	151						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						GTTCAGAAAAAGGTGAGCCAG	0.493000														23			3		0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475618	17475618	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:17475618G>A	uc002wpo.3	-	7	1138	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	BFSP1_uc002wpp.3_Missense_Mutation_p.P242S|BFSP1_uc010zrn.2_Missense_Mutation_p.P228S|BFSP1_uc010zro.2_Missense_Mutation_p.P228S	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	367	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						ACATTCTTGGGGAGGGCTTTT	0.408000														87			43		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27672935	27672935	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:27672935G>A	uc002rku.3	-	35	4031	c.3980C>T	c.(3979-3981)cCt>cTt	p.P1327L	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1327					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACGTTGGGGAGGCAGAAACTT	0.478000														35			9		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725604	28725604	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:28725604G>A	uc002kwn.3	-	6	1171	c.909C>T	c.(907-909)atC>atT	p.I303I	DSC1_uc002kwm.3_Silent_p.I303I	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	303	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TAGTTGTGGTGATGACACCGG	0.378000														45			24		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116340221	116340221	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:116340221C>T	uc003vij.3	+	1	1270	c.1083C>T	c.(1081-1083)gcC>gcT	p.A361A	MET_uc022akk.1_Silent_p.A361A|MET_uc010lkh.3_Silent_p.A361A|MET_uc011knc.1_Silent_p.A361A|MET_uc011knd.2_Silent_p.A361A|MET_uc011knf.2_Silent_p.A361A|MET_uc011kne.2_Silent_p.A361A|MET_uc011kng.1_Silent_p.A361A|MET_uc011knh.1_Silent_p.A361A|MET_uc011kni.2_Silent_p.A361A|MET_uc003vii.1_Silent_p.A380A|MET_uc010lkg.3_Silent_p.A361A|MET_uc011kmz.1_Silent_p.A361A|MET_uc011kna.1_Silent_p.A361A|MET_uc011knb.1_Silent_p.A361A	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	361	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATCGATCTGCCATGTGTGCAT	0.443000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					34			4		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123971130	123971130	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:123971130C>T	uc001lfv.3	+	8	7550	c.7190C>T	c.(7189-7191)tCc>tTc	p.S2397F	TACC2_uc001lfw.3_Missense_Mutation_p.S543F|TACC2_uc009xzx.3_Missense_Mutation_p.S2352F|TACC2_uc010qtv.2_Missense_Mutation_p.S2401F|TACC2_uc001lfx.3_Missense_Mutation_p.S101F|TACC2_uc001lfy.3_Missense_Mutation_p.S101F|TACC2_uc001lfz.3_Missense_Mutation_p.S475F|TACC2_uc001lga.3_Missense_Mutation_p.S475F|TACC2_uc009xzy.3_Missense_Mutation_p.S475F|TACC2_uc001lgb.3_Missense_Mutation_p.S432F|TACC2_uc010qtw.1_Missense_Mutation_p.S492F	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2397	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCCCAGCCTCCTTTGAGATC	0.512000														64			13		0	0	1	0	0
VAX2	25806	broad.mit.edu	37	2	71160139	71160139	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:71160139C>T	uc002shh.3	+	2	710	c.678C>T	c.(676-678)tcC>tcT	p.S226S	ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.3_5'Flank	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA.	226					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GGAACTCCTCCCCACGCCTCA	0.701000														14			12		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172348182	172348182	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:172348182G>A	uc001gie.3	+	17	2094	c.1918G>A	c.(1918-1920)Gca>Aca	p.A640T	DNM3_uc001gif.3_Missense_Mutation_p.A636T|DNM3_uc001gih.1_5'UTR	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	646					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAATGGACAAGCAGAAAACTT	0.388000														20			11		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756999	71756999	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:71756999G>A	uc003kce.1	-	1	511	c.325C>T	c.(325-327)Ctt>Ttt	p.L109F		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G108S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGGTTGGGAAGGCCGTGGTTT	0.567000														177			126		0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47492896	47492896	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:47492896C>T	uc010ekv.3	+	3	4000	c.4000C>T	c.(4000-4002)Ccg>Tcg	p.P1334S		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	1334	Rho-GAP.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCCCCTGGTCCCGTATAACAT	0.537000														103			41		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641952	57641952	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:57641952G>A	uc002qny.3	+	3	2265	c.1909G>A	c.(1909-1911)Gat>Aat	p.D637N	USP29_uc021vci.1_Missense_Mutation_p.D637N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	637					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACTTTAGAGATAGGGCAAT	0.483000														29			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542534	179542534	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179542534C>T	uc021vsy.1	-	142	30598	c.30373G>A	c.(30373-30375)Gaa>Aaa	p.E10125K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6786K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11052	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTAGAACTTCCTCTTCCTCA	0.453000														80			63		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124053168	124053168	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:124053168G>A	uc003ehg.3	+	8	1594	c.1467G>A	c.(1465-1467)ggG>ggA	p.G489G	KALRN_uc010hrv.1_Silent_p.G489G|KALRN_uc003ehf.1_Silent_p.G489G|KALRN_uc011bjy.1_Silent_p.G489G	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	489					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGAGCCCTGGGAACTCCGAAT	0.562000														101			59		0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3016261	3016261	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:3016261G>A	uc010zqd.2	+	19	2301	c.1984G>A	c.(1984-1986)Gga>Aga	p.G662R	PTPRA_uc002whj.3_Missense_Mutation_p.G651R|PTPRA_uc002whk.3_Missense_Mutation_p.G642R|PTPRA_uc002whl.3_Missense_Mutation_p.G642R|PTPRA_uc002whm.3_Missense_Mutation_p.G418R|PTPRA_uc002whn.3_Missense_Mutation_p.G642R|PTPRA_uc002who.3_Missense_Mutation_p.G314R	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	651	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCATCTGATGGACTGGTGTC	0.542000														16			13		0	0	1	0	0
CD180	4064	broad.mit.edu	37	5	66479788	66479788	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:66479788G>A	uc003juy.2	-	2	1031	c.883C>T	c.(883-885)Cag>Tag	p.Q295*		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	295					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GTGAAGCACTGAAATGTGGTG	0.463000														57			40		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800690	93800690	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:93800690C>T	uc001pep.2	+	4	994	c.837C>T	c.(835-837)ttC>ttT	p.F279F	AF086184_uc001pen.1_Non-coding_Transcript	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	279	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TCGGAAACTTCCCGGAGCCTG	0.468000														88			56		0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894387	123894387	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:123894387C>T	uc010sad.2	+	0	668	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S223T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ATCGTCTGTTCCATCCTGCGG	0.537000														24			47		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22834596	22834596	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:22834596C>T	uc001bft.2	+	7	1974	c.1463C>T	c.(1462-1464)tCa>tTa	p.S488L	ZBTB40_uc001bfu.2_Missense_Mutation_p.S488L|ZBTB40_uc009vqi.1_Missense_Mutation_p.S376L|ZBTB40_uc001bfv.1_Missense_Mutation_p.S117L	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	488					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AAGATGATCTCACACATGACA	0.413000														29			12		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98182396	98182396	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:98182396C>T	uc001kml.2	-	5	968	c.727G>A	c.(727-729)Gag>Aag	p.E243K	TLL2_uc009xvf.2_Missense_Mutation_p.E191K	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	243	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGGCCCAGCTCGTGAGCCACA	0.552000														42			12		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516106	138516106	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:138516106C>T	uc010nbd.1	-	4	922	c.668G>A	c.(667-669)gGa>gAa	p.G223E		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	223					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ATAGAAATCTCCCTGTCCAAA	0.453000														46			38		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381528	81381528	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:81381528C>T	uc003uhl.3	-	4	698	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	HGF_uc003uhm.3_Missense_Mutation_p.R173Q|HGF_uc003uhn.1_Missense_Mutation_p.R178Q|HGF_uc003uho.1_Missense_Mutation_p.R173Q|HGF_uc003uhp.3_Missense_Mutation_p.R178Q	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	178	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCGAGGATTTCGACAGTAGTT	0.418000														48			5		0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219353064	219353064	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:219353064G>A	uc010fvs.1	-	14	1966	c.1553C>T	c.(1552-1554)cCt>cTt	p.P518L	USP37_uc002vie.2_Missense_Mutation_p.P518L|USP37_uc010zkf.1_Missense_Mutation_p.P518L|USP37_uc002vif.2_Missense_Mutation_p.P518L|USP37_uc002vig.2_Missense_Mutation_p.P446L	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	518					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.P517S(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		AATTGAACGAGGAGGGAGTGG	0.318000														43			40		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060378	9060378	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9060378G>A	uc002mkp.3	-	2	27272	c.27068C>T	c.(27067-27069)cCt>cTt	p.P9023L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9025	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						TGCCTTGTAAGGAACAGTGCT	0.527000														62			10		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262441	158262441	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:158262441G>T	uc001fru.3	+	3	958	c.666G>T	c.(664-666)ttG>ttT	p.L222F	CD1C_uc021pbl.1_Non-coding_Transcript	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	222	Ig-like.				T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.L221V(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCCAGCTGTTGCTGGTTTGTC	0.522000														49			12		9.05144e-12	9.14319e-12	1	1	0
AGPAT9	84803	broad.mit.edu	37	4	84518604	84518604	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:84518604C>T	uc003how.3	+	9	1150	c.932C>T	c.(931-933)tCa>tTa	p.S311L	AGPAT9_uc003hox.3_Missense_Mutation_p.S311L|AGPAT9_uc003hoy.3_Missense_Mutation_p.S311L	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	311					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				AACAATACTTCAGTCATGATG	0.308000														33			7		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104880	183104880	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:183104880G>A	uc002uos.3	-	3	439	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	PDE1A_uc010zfp.1_Missense_Mutation_p.R15W|PDE1A_uc002uoq.1_Missense_Mutation_p.R119W|PDE1A_uc010zfq.1_Missense_Mutation_p.R119W|PDE1A_uc002uor.3_Missense_Mutation_p.R103W|PDE1A_uc002uou.3_Missense_Mutation_p.R85W	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	119					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R119W(6)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACAATGCTCCGAAATTTTGGT	0.418000														63			20		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328892	80328892	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:80328892G>A	uc003hlu.3	-	0	481	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	155					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AGCATCCAACGAAGTTTTACT	0.408000														60			48		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241686696	241686696	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:241686696G>A	uc010fzk.3	-	28	3267	c.3020C>T	c.(3019-3021)tCg>tTg	p.S1007L	KIF1A_uc002vzy.3_Missense_Mutation_p.S906L|KIF1A_uc002vzz.2_Missense_Mutation_p.S1007L	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	906					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGCAGTTCCCGACTGGCGGAC	0.577000														19			11		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747630	143747630	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:143747630G>A	uc011ktw.2	+	0	136	c.136G>A	c.(136-138)Ggg>Agg	p.G46R		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GGCCATCCTGGGGCTCATCTG	0.517000														39			35		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38646284	38646284	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:38646284C>T	uc021wvo.1	-	9	1506	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E	SCN5A_uc021wvk.1_Missense_Mutation_p.G485E|SCN5A_uc021wvl.1_Missense_Mutation_p.G485E|SCN5A_uc021wvm.1_Missense_Mutation_p.G485E|SCN5A_uc021wvn.1_Missense_Mutation_p.G485E|SCN5A_uc021wvp.1_Missense_Mutation_p.G485E|SCN5A_uc021wvq.1_Missense_Mutation_p.G485E|SCN5A_uc021wvr.1_Missense_Mutation_p.G485E|SCN5A_uc021wvs.1_Missense_Mutation_p.G485E|SCN5A_uc021wvt.1_Missense_Mutation_p.G485E|SCN5A_uc021wvu.1_Missense_Mutation_p.G485E|SCN5A_uc021wvv.1_Missense_Mutation_p.G485E|SCN5A_uc021wvj.1_Missense_Mutation_p.G351E|SCN5A_uc021wvi.1_Missense_Mutation_p.G351E|SCN5A_uc021wvw.1_Missense_Mutation_p.G96E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	485					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)	CTCCTCAGTTCCTGAAGACAT	0.542000														32			10		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238966	48238966	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:48238966G>A	uc010rhs.2	+	0	605	c.605G>A	c.(604-606)gGa>gAa	p.G202E		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCCAACAGTGGATTATTCTCT	0.478000														55			32		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997547	115997547	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:115997547G>A	uc003ibu.3	-	1	1325	c.646C>T	c.(646-648)Cct>Tct	p.P216S	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	216	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCTTCCCCAGGAAGAGGGCCT	0.408000														49			12		0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30374518	30374518	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:30374518C>T	uc003agv.4	+	3	419	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	MTMR3_uc003agu.4_Nonsense_Mutation_p.Q31*|MTMR3_uc003agw.4_Nonsense_Mutation_p.Q31*	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	31					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGAGAATCTTCAGGTAATTAT	0.378000														19			27		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99264686	99264686	+	Silent	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:99264686A>G	uc003urq.3	-	4	423	c.321T>C	c.(319-321)tcT>tcC	p.S107S	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_Silent_p.S97S|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	107					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CTGGGCCTAAAGACTAGAGTT	0.383000														12			9		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1652420	1652420	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:1652420G>A	uc002cmb.3	-	3	682	c.320C>T	c.(319-321)aCc>aTc	p.T107I		NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	107										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACGGAGCACGGTGATGTCGGC	0.587000														17			11		0	0	1	0	0
LYRM2	57226	broad.mit.edu	37	6	90348475	90348475	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:90348475G>A	uc003pnm.3	-	1	1	c.-38_splice	c.e1-1		LYRM2_uc010kce.2_5'Flank|LYRM2_uc003png.3_Splice_Site|LYRM2_uc010kcf.1_5'Flank|LYRM2_uc010kcg.3_5'Flank|LYRM2_uc003pnl.4_5'Flank|LYRM2_uc021zcr.1_5'Flank	NM_020466	NP_065199	Q9NU23	LYRM2_HUMAN	Homo sapiens LYR motif containing 2 (LYRM2), transcript variant 1, mRNA.											kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		GCGCAGGAGCGGAAGTGGGGT	0.667000														23			31		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30977158	30977158	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:30977158C>T	uc010xbr.1	-	2	215	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	C18orf34_uc002kxn.2_Missense_Mutation_p.E25K|C18orf34_uc010dmf.1_Missense_Mutation_p.E25K|C18orf34_uc002kxo.2_Missense_Mutation_p.E25K|C18orf34_uc002kxp.3_Missense_Mutation_p.E25K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	25										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						GCCTTTACTTCCTGACATGTT	0.328000														37			12		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35733730	35733730	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:35733730A>G	uc021rid.1	+	21	3956	c.3422A>G	c.(3421-3423)aAt>aGt	p.N1141S	NBEA_uc021ric.1_Missense_Mutation_p.N1141S|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1141						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GACCTTCCCAATAGTAGTACA	0.333000														14			6		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161007579	161007579	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:161007579T>G	uc003qtl.3	-	25	4151	c.4031A>C	c.(4030-4032)gAg>gCg	p.E1344A		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3852	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTTGCAGTACTCCCATCTGAC	0.507000														31			37		0	0	1	0	0
VAX2	25806	broad.mit.edu	37	2	71159921	71159921	+	Missense_Mutation	SNP	C	G	G	rs140787534		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:71159921C>G	uc002shh.3	+	2	492	c.460C>G	c.(460-462)Cgc>Ggc	p.R154G		NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA.	154					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						CCAGAACCGCCGCACCAAGCA	0.617000														20			11		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410507	159410507	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:159410507C>T	uc010piv.2	+	0	996	c.959C>T	c.(958-960)tCc>tTc	p.S320F	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	320					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GGGAAGTTTTCCTGACCATGT	0.493000														40			19		0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133943020	133943020	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:133943020C>T	uc003vrm.1	+	18	2226	c.2210C>T	c.(2209-2211)tCc>tTc	p.S737F		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	737							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGGAAGGATTCCTTGGTTTCC	0.433000														65			10		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599346	29599346	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:29599346G>A	uc001usl.4	+	0	599	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	171						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.E181*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGACAATGAGGAACTGAGGAG	0.532000														72			33		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6219548	6219548	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:6219548C>T	uc001amb.2	-	2	346	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	79	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGATCCTCTTCATTCTCTGAT	0.507000														2			5		0	0	1	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32905011	32905011	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32905011C>T	uc003ocl.2	-	2	823	c.560G>A	c.(559-561)gGg>gAg	p.G187E	HLA-DMB_uc003ock.2_5'Flank|HLA-DMB_uc010jud.2_Missense_Mutation_p.G56E|HLA-DMB_uc010jue.2_Missense_Mutation_p.G56E|HLA-DMB_uc010juf.2_Missense_Mutation_p.G56E|HLA-DMB_uc003ocj.2_3'UTR|HLA-DMB_uc011dql.2_Missense_Mutation_p.G187E	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	187	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane		p.G187R(1)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GTAAGTGTCCCCGTAAGAGGG	0.547000														54			56		0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59485556	59485556	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:59485556C>T	uc010wox.2	+	6	2109	c.1828C>T	c.(1828-1830)Ccc>Tcc	p.P610S	TBX2_uc002ize.3_3'UTR|TBX2_uc002izg.3_Missense_Mutation_p.P456S	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	610					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CTCCCGGAGCCCCTTCCTGGG	0.706000														27			7		0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46703605	46703605	+	Missense_Mutation	SNP	G	C	C	rs138044269		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:46703605G>C	uc001ndd.3	-	4	514	c.445C>G	c.(445-447)Cgc>Ggc	p.R149G		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Homo sapiens Rho GTPase activating protein 1 (ARHGAP1), mRNA.	149	CRAL-TRIO.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		ACCCACTTGCGGTCAAACTCC	0.617000														47			43		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631135	122631135	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:122631135C>A	uc003efz.1	-	18	3084	c.2780G>T	c.(2779-2781)gGt>gTt	p.G927V	SEMA5B_uc011bju.1_Intron|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.G927V|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	927	TSP type-1 4.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTGACCCCCACCACAGGAAGC	0.652000														19			6		8.12818e-05	8.16506e-05	1	1	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812779	31812779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:31812779C>T	uc002yod.3	+	0	134	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	45						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CAACTGGGCTCCTCTCTCTAC	0.493000														60			37		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136934327	136934327	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:136934327A>T	uc003qhc.3	-	16	2707	c.2346T>A	c.(2344-2346)ttT>ttA	p.F782L	MAP3K5_uc011edj.2_Missense_Mutation_p.F29L|MAP3K5_uc011edk.1_Missense_Mutation_p.F627L	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	782	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GCTTTGTATAAAAGCCAATTG	0.368000														28			13		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92470030	92470030	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:92470030G>A	uc001xzy.3	-	10	4664	c.4290C>T	c.(4288-4290)ttC>ttT	p.F1430F	TRIP11_uc010auf.2_Silent_p.F1166F	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	1430					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTTGTTAGTGAAATTTTCAT	0.338000			T	PDGFRB	AML									33			28		0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48519292	48519292	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:48519292G>A	uc002pht.3	+	3	529	c.351G>A	c.(349-351)acG>acA	p.T117T		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	117	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TCTGTGAAACGAATGGTGAGC	0.552000														97			20		0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716067	170716067	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:170716067C>T	uc003fhe.1	-	9	1598	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E	SLC2A2_uc003fhf.1_Missense_Mutation_p.G257E|SLC2A2_uc011bpu.1_Missense_Mutation_p.G303E	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	430					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AGGACGTGGTCCTTGACTGAA	0.468000														53			34		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149475059	149475059	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:149475059G>A	uc010lpk.3	+	5	760	c.760G>A	c.(760-762)Gag>Aag	p.E254K	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	254	VWFD 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGACCCGAGGAGGTGCTGAT	0.617000														28			12		0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7917207	7917207	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7917207A>T	uc002gjt.2	+	11	2347	c.2273A>T	c.(2272-2274)cAg>cTg	p.Q758L		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	758	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GAAGTGGTGCAGAGGGTGCGG	0.617000														58			21		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20658840	20658840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:20658840G>A	uc001mqd.3	+	11	2133	c.1860G>A	c.(1858-1860)atG>atA	p.M620I	SLC6A5_uc009yic.3_Missense_Mutation_p.M385I	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	620					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTTTTCCAATGATCACTCAGG	0.527000														70			22		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44833912	44833912	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:44833912G>A	uc010xwy.2	-	4	585	c.467C>T	c.(466-468)tCc>tTc	p.S156F	ZFP112_uc010ejj.3_Missense_Mutation_p.S139F|ZFP112_uc002ozc.4_Missense_Mutation_p.S133F|ZFP112_uc010xwz.2_Missense_Mutation_p.S138F	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CTGGCCGAGGGAATTACCTTG	0.403000														44			6		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39454829	39454829	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:39454829G>A	uc001uwv.3	+	23	9724	c.9415G>A	c.(9415-9417)Gaa>Aaa	p.E3139K		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	3139					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGGGGCAAGGAAAGTTTCAG	0.572000														44			17		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59268218	59268218	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:59268218G>A	uc001sqr.3	-	16	3079	c.2833C>T	c.(2833-2835)Cat>Tat	p.H945Y	LRIG3_uc009zqh.3_Missense_Mutation_p.H885Y|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	945						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTACCTGTATGATATGTTTCA	0.423000			T	ROS1	NSCLC									67			28		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87226776	87226776	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:87226776G>A	uc003ydq.1	-	3	1377	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L	SLC7A13_uc003ydr.1_3'UTR	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	427						integral to membrane	amino acid transmembrane transporter activity	p.L427L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGAACTAACAGAAGCACGTAG	0.348000														30			17		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254766	51254766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:51254766G>A	uc021vhh.1	-	0	1567	c.646C>T	c.(646-648)Ccg>Tcg	p.P216S	NRXN1_uc021vhg.1_Missense_Mutation_p.P216S|NRXN1_uc021vhi.1_Missense_Mutation_p.P216S|NRXN1_uc021vhj.1_Missense_Mutation_p.P216S|NRXN1_uc021vhk.1_Missense_Mutation_p.P216S	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	216	EGF-like 1.|Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCTCGCACGGGCTTCCCCCG	0.701000														7			3		0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167341173	167341173	+	Missense_Mutation	SNP	C	T	T	rs141034916	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:167341173C>T	uc001gec.3	+	5	472	c.233C>T	c.(232-234)tCg>tTg	p.S78L	POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Missense_Mutation_p.S101L|POU2F1_uc010plh.2_Missense_Mutation_p.S101L|POU2F1_uc001ged.3_Missense_Mutation_p.S76L|POU2F1_uc001gef.3_Missense_Mutation_p.S90L|POU2F1_uc001geg.3_5'UTR	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	78					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AATGAAGAATCGGGGGATTCG	0.473000														117			99		0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36110967	36110968	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:36110967_36110968CC>TT	uc002oam.1	+	15	1511_1512	c.1460_1461CC>TT	c.(1459-1461)tcc>tTT	p.S487F		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	487					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CACCCCGCGTCCCCAAGGGGCT	0.678000														113			27		0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45567648	45567648	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:45567648G>A	uc001zva.2	+	17	1979	c.1914G>A	c.(1912-1914)aaG>aaA	p.K638K		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	638					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GGGAAGATAAGGAGTTCAGTG	0.443000														165			106		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101014449	101014449	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:101014449G>A	uc003yjb.1	-	17	2966	c.2771C>T	c.(2770-2772)tCt>tTt	p.S924F	RGS22_uc003yja.1_Missense_Mutation_p.S743F|RGS22_uc003yjc.1_Missense_Mutation_p.S912F|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.S313F|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	924	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTGATACAGAGAAGCTGGACT	0.308000														37			21		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035913	36035913	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:36035913C>T	uc003jjz.2	-	6	1591	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	UGT3A2_uc011cos.2_Missense_Mutation_p.D453N|UGT3A2_uc011cot.2_Missense_Mutation_p.D185N	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	487						integral to membrane	glucuronosyltransferase activity	p.L486I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAAAAACGTCGAGCAGGTAC	0.612000														28			23		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541808	70541808	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:70541808C>T	uc001dep.3	+	21	4195	c.4165C>T	c.(4165-4167)Cgc>Tgc	p.R1389C	LRRC7_uc009wbg.3_Missense_Mutation_p.R673C|LRRC7_uc001deq.3_Missense_Mutation_p.R583C	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1389						centrosome|focal adhesion|nucleolus	protein binding	p.R1389C(2)|p.R1389H(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTTCAGCATCGCAGCCGGGA	0.507000														56			9		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817322	69817323	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:69817322_69817323CC>TT	uc003hef.2	-	0	187_188	c.156_157GG>AA	c.(154-159)gaggta>gaAAta	p.V53I	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	53						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AATACTGTTACCTCATGGCCTC	0.465000														46			29		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27183467	27183467	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:27183467G>A	uc011lno.2	+	6	1354	c.912G>A	c.(910-912)agG>agA	p.R304R	TEK_uc011lnn.1_Missense_Mutation_p.D351N|TEK_uc003zqi.4_Silent_p.R347R|TEK_uc011lnp.2_Silent_p.R200R|TEK_uc003zqj.1_Silent_p.R281R	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	347	EGF-like 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GCATACAGAGGATGACCCCAA	0.383000														75			84		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22314949	22314949	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22314949C>T	uc001wbz.1	+	0	231	c.6C>T	c.(4-6)ctC>ctT	p.L2L	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_5'Flank|TCRA_uc010ait.1_Silent_p.L2L					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		CAGCCATGCTCCTGCTGCTCG	0.542000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			6		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155689	151155689	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:151155689C>T	uc011bod.2	-	5	6660	c.6660G>A	c.(6658-6660)ggG>ggA	p.G2220G	IGSF10_uc011bob.2_Silent_p.G247G|IGSF10_uc011boc.2_Silent_p.G199G	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2220	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGTGTCATCCCCACTGGGAT	0.423000														65			54		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61028352	61028352	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61028352C>T	uc010qif.1	-	7	1035	c.969G>A	c.(967-969)cgG>cgA	p.R323R	FAM13C_uc010qid.2_Silent_p.R218R|FAM13C_uc001jkn.3_Silent_p.R301R|FAM13C_uc001jko.3_Silent_p.R301R|FAM13C_uc010qie.2_Silent_p.R218R|FAM13C_uc001jkp.3_Silent_p.R218R	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	301										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCAAATTTCCGAATTTTCC	0.507000														18			21		0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133848262	133848262	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:133848262C>T	uc003vrm.1	+	6	925	c.909C>T	c.(907-909)ctC>ctT	p.L303L		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	303							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATCATGACCTCCTGGAAGTGA	0.448000														16			18		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85729554	85729554	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:85729554G>A	uc003hpd.3	-	14	2770	c.2362C>T	c.(2362-2364)Cct>Tct	p.P788S		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	788						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGCAAGGAGGGATCTGTTCT	0.458000														129			44		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35547918	35547918	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:35547918C>T	uc011dte.1	-	8	1124	c.921G>A	c.(919-921)aaG>aaA	p.K307K	FKBP5_uc003okx.2_Silent_p.K307K|FKBP5_uc011dtf.1_Silent_p.K128K|FKBP5_uc003oky.2_Silent_p.K307K	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	307					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTTTCGATTCCTTTTCTGATA	0.433000														124			42		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961408	73961408	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:73961408G>A	uc004eby.3	-	2	3601	c.2984C>T	c.(2983-2985)tCa>tTa	p.S995L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	995					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.D994N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGGGCCATTGAATCAAAGCT	0.443000														4			21		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061715	9061715	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9061715G>A	uc002mkp.3	-	2	25935	c.25731C>T	c.(25729-25731)tcC>tcT	p.S8577S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8579	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						CTGGTAATGTGGAGAAAAAAG	0.532000														43			13		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170166	32170166	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32170166C>T	uc003obb.3	-	20	3581	c.3442G>A	c.(3442-3444)Gag>Aag	p.E1148K	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.	1148	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	p.S1147S(1)		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						CCCGTGGTCTCTGAGCAGCTG	0.652000														282			116		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55202113	55202113	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:55202113C>T	uc003jql.3	+	8	1441	c.1249C>T	c.(1249-1251)Caa>Taa	p.Q417*	IL31RA_uc003jqk.3_Nonsense_Mutation_p.Q417*|IL31RA_uc011cqj.2_Nonsense_Mutation_p.Q275*|IL31RA_uc003jqm.3_Nonsense_Mutation_p.Q398*|IL31RA_uc003jqn.3_Nonsense_Mutation_p.Q417*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.Q385*|IL31RA_uc021xyq.1_Nonsense_Mutation_p.Q398*|IL31RA_uc003jqo.3_Nonsense_Mutation_p.Q275*	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	385					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GACGATCCAGCAAGGTAGCCA	0.493000														38			8		0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53715136	53715136	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:53715136G>A	uc001scr.4	-	0	277	c.114C>T	c.(112-114)ttC>ttT	p.F38F	AAAS_uc001scs.4_Silent_p.F38F	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	38					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CCTGGCCCCGGAAGTCGGGGG	0.657000														63			49		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343754	248343754	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248343754G>A	uc010pzf.2	+	0	467	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACAGATGGAATCATTGAT	0.433000														187			59		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39934316	39934317	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:39934316_39934317CC>TT	uc021olw.1	+	60	17130_17131	c.17130_17131CC>TT	c.(17128-17133)gtccgt>gtTTgt	p.R5711C	MACF1_uc021ols.1_Missense_Mutation_p.R5200C|MACF1_uc021olt.1_Missense_Mutation_p.R5203C|MACF1_uc001cde.2_Missense_Mutation_p.R80C|MACF1_uc001cdg.3_5'UTR|MACF1_uc001cdh.3_5'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7161					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCGGCTGGTCCGTATTCTGCG	0.436000														38			10		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111776115	111776115	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:111776115C>T	uc001tsa.2	+	19	3376	c.3222C>T	c.(3220-3222)atC>atT	p.I1074I		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1074						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGAAAGCATCCTGGGTCTGA	0.622000														28			25		0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70206786	70206786	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:70206786C>T	uc001svp.3	+	9	1768	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	RAB3IP_uc001svm.3_Nonsense_Mutation_p.Q425*|RAB3IP_uc001svn.3_Silent_p.F391F|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Silent_p.F407F|RAB3IP_uc001svs.3_Non-coding_Transcript|RAB3IP_uc001svt.3_Nonsense_Mutation_p.Q219*	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	441					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TCGATACATTCAGCAGGGACT	0.343000														37			33		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17400855	17400855	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:17400855C>T	uc011kye.2	+	1	175	c.127C>T	c.(127-129)Cct>Tct	p.P43S	SLC7A2_uc011kyc.2_Missense_Mutation_p.P3S|SLC7A2_uc011kyd.2_Missense_Mutation_p.P43S	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	3					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAATGATTCCTTGCAGAGC	0.522000														39			25		0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123550194	123550195	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:123550194_123550195CC>TT	uc004bkn.2	-	2	765_766	c.438_439GG>AA	c.(436-441)caggac>caAAac	p.D147N	FBXW2_uc011lyc.1_5'UTR|FBXW2_uc004bkl.1_Missense_Mutation_p.D115N|FBXW2_uc004bkm.1_Missense_Mutation_p.D115N|FBXW2_uc010mvj.1_Missense_Mutation_p.D115N	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	Homo sapiens F-box and WD repeat domain containing 2 (FBXW2), mRNA.	115					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGCAAAGCGTCCTGAACAGAAT	0.441000														51			33		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22555003	22555003	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22555003A>T	uc001wcz.1	+	1	189	c.129A>T	c.(127-129)aaA>aaT	p.K43N	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_5'UTR					SubName: Full=HADV23S1; Flags: Fragment;																		TAGTCCAGAAAGGAGGGATTT	0.428000														25			3		0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33000324	33000324	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:33000324C>T	uc010geu.1	+	4	408	c.216C>T	c.(214-216)atC>atT	p.I72I	ITCH_uc002xak.2_Silent_p.I72I|ITCH_uc010zuj.1_5'UTR	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	72	C2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CTTTTAGTATCGTTACCCCTG	0.303000														20			12		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50315832	50315832	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:50315832C>T	uc001jhf.2	-	1	293	c.264G>A	c.(262-264)ggG>ggA	p.G88G	VSTM4_uc001jhh.2_Silent_p.G88G	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	88	Ig-like.					integral to membrane|plasma membrane		p.G88W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGCTGAAATTCCCATAGTACT	0.627000														61			14		0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1279649	1279649	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:1279649G>A	uc002cky.3	-	2	174	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	TPSB2_uc010brk.1_Non-coding_Transcript|TPSB2_uc002ckx.3_5'UTR	NM_024164	NP_077078	P20231	TRYB2_HUMAN	Homo sapiens tryptase beta 2 (gene/pseudogene) (TPSB2), mRNA.	51	Peptidase S1.		HGP -> RDR (in beta-III).		proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				TATCGGTCGCGGACTCTCAGG	0.701000														37			7		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586860	42586860	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:42586860C>T	uc003xpi.1	+	4	538	c.410C>T	c.(409-411)tCa>tTa	p.S137L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	137					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATCGTGAAATCAAACGGAACT	0.542000														33			21		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4870164	4870164	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:4870164C>T	uc001qne.1	+	6	1306	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	405	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TTGCCCTGTTCCCGGATTGCC	0.527000														37			28		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55070051	55070051	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:55070051G>A	uc001cxm.2	+	11	1361	c.1185G>A	c.(1183-1185)ttG>ttA	p.L395L	ACOT11_uc001cxj.2_Silent_p.L273L|ACOT11_uc001cxl.2_Silent_p.L395L	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	395	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TCTCCTCCTTGAAGATGCTTG	0.552000														54			11		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56962279	56962279	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:56962279C>T	uc001cyj.2	-	5	1448	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	294					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GAAAGGATTTCCTTCCGGATA	0.478000														60			15		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139909125	139909125	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:139909125G>A	uc003lfs.2	+	28	6748	c.6594G>A	c.(6592-6594)aaG>aaA	p.K2198K	ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.K2198K|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.K937K|ANKHD1-EIF4EBP3_uc003lfw.3_Silent_p.K836K|ANKHD1-EIF4EBP3_uc010jfl.3_Silent_p.K633K|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.K335K	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	2198						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAAATAAGTCTTTGCCAC	0.473000														89			56		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167277932	167277932	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:167277932C>T	uc003fev.1	-	4	875	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	WDR49_uc003feu.1_Missense_Mutation_p.G16S|WDR49_uc011bpd.1_Missense_Mutation_p.G244S|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	191										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCTGCGTTGCCGTGGCAACCA	0.453000														69			37		0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60561513	60561513	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:60561513C>T	uc001npz.1	+	4	525	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	143						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						TCGTCATCTCCAAGGATCTCT	0.517000														84			38		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31537429	31537429	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:31537429G>A	uc010dmi.3	-	7	1587	c.1289C>T	c.(1288-1290)tCt>tTt	p.S430F	NOL4_uc010xbs.2_Missense_Mutation_p.S145F|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Missense_Mutation_p.S356F|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	430						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGGCTGCTTAGAGATTGGGAC	0.483000														29			14		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502478	20502478	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:20502478G>A	uc010tkz.2	-	0	440	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S147F(2)|p.L146V(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGCATAGGAGGATAACAGTAG	0.463000														126			19		0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310956	124310956	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:124310956A>C	uc010sal.2	-	0	26	c.26T>G	c.(25-27)gTg>gGg	p.V9G		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V9M(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAACTGTGTCACGAAGGAGGA	0.507000														18			19		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002825	122002825	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:122002825G>A	uc003eew.4	+	6	2492	c.2054G>A	c.(2053-2055)tGg>tAg	p.W685*	CASR_uc003eev.4_Nonsense_Mutation_p.W675*	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	675					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCCCAGGACTGGACGTGCCGC	0.602000														91			42		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21101732	21101732	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:21101732G>A	uc001iqi.3	-	23	2881	c.2484C>T	c.(2482-2484)atC>atT	p.I828I	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.I165I|NEBL_uc021pnu.1_Silent_p.I165I	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	828					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCATCTCCACGATGTGAGGGT	0.542000														38			22		0	0	1	0	0
SCAMP1	9522	broad.mit.edu	37	5	77684718	77684718	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:77684718C>T	uc003kfl.3	+	1	272	c.115C>T	c.(115-117)Cca>Tca	p.P39S	SCAMP1_uc010jaa.3_Non-coding_Transcript|SCAMP1_uc011ctc.2_Intron|SCAMP1_uc011ctd.2_Non-coding_Transcript	NM_004866	NP_004857	O15126	SCAM1_HUMAN	Homo sapiens secretory carrier membrane protein 1 (SCAMP1), mRNA.	39					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TGAATATAATCCATTCTCGGA	0.289000														10			4		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841864	8841864	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:8841864C>T	uc010xkg.2	+	0	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACGCCTCCATCCAGACCTCCA	0.552000														47			93		0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925481	218925481	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:218925481G>A	uc002vgx.3	-	0	533	c.240C>T	c.(238-240)atC>atT	p.I80I	RUFY4_uc002vgw.3_Intron					Homo sapiens chemokine (C-X-C motif) receptor 2 pseudogene 1 (CXCR2P1), non-coding RNA.																		GCAGCGGCACGATGAAGCCAA	0.527000														30			30		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26702507	26702507	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:26702507C>T	uc002rhk.3	-	16	2054	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	OTOF_uc002rhh.3_5'Flank|OTOF_uc002rhi.3_5'Flank|OTOF_uc002rhj.3_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	643					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCAACTTCGTTCCCATAG	0.627000														21			19		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50406783	50406783	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:50406783C>T	uc002xwh.4	-	1	2340	c.2239G>A	c.(2239-2241)Ggc>Agc	p.G747S	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	747					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCTGCTGCCCTGGCGCTGC	0.577000														22			18		0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155851143	155851143	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:155851143C>T	uc001fmg.3	+	3	1433	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	SYT11_uc010pgq.2_Silent_p.L73L	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	Homo sapiens synaptotagmin XI (SYT11), mRNA.	380	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TCGAGTTCCTCGTTATCGACT	0.522000														178			138		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147449895	147449895	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:147449895C>T	uc003lox.2	+	2	164	c.91C>T	c.(91-93)Cat>Tat	p.H31Y	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Missense_Mutation_p.H3Y|SPINK5_uc010jgr.2_Intron|SPINK5_uc003low.2_Missense_Mutation_p.H31Y|SPINK5_uc003loy.2_Missense_Mutation_p.H31Y	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	31	Kazal-like 1; atypical.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAATGTGCCATGAATTTCA	0.294000														42			13		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455304	70455304	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:70455304C>T	uc011caq.2	-	6	1984	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	UGT2A1_uc010ihu.3_Missense_Mutation_p.R457Q|UGT2A1_uc003hem.4_Missense_Mutation_p.R457Q|UGT2A1_uc010ihs.3_Missense_Mutation_p.R466Q|UGT2A1_uc021xox.1_Missense_Mutation_p.R422Q|UGT2A1_uc010iht.3_Missense_Mutation_p.R413Q	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	457					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAAGACTGCTCGATCCAGGGG	0.448000														57			56		0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296779	9296779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9296779C>T	uc002mkz.1	+	0	510	c.322C>T	c.(322-324)Cct>Tct	p.P108S		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	108					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CATGTTTTTTCCTATTCTGGA	0.512000														140			34		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21783575	21783575	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:21783575C>T	uc010iuc.2	-	7	1743	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	CDH12_uc011cno.1_Missense_Mutation_p.D389N|CDH12_uc003jgk.2_Missense_Mutation_p.D429N	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	429	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAGTAGCTGTCCCCATCACTC	0.378000										HNSCC(59;0.17)				114			58		0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555209	10555209	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:10555209C>T	uc003wtd.1	+	2	371	c.342C>T	c.(340-342)ttC>ttT	p.F114F	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	114										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GTGACTACTTCCACCACACCT	0.577000														134			73		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136555539	136555539	+	Missense_Mutation	SNP	C	T	T	rs142376496	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:136555539C>T	uc004cep.4	-	15	2166	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	SARDH_uc004ceo.3_Missense_Mutation_p.E678K|SARDH_uc011mdo.2_Missense_Mutation_p.E510K|SARDH_uc011mdn.2_Missense_Mutation_p.E678K|SARDH_uc004cen.3_Missense_Mutation_p.E106K	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	678					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCCAGGTCCTCGGAGCTGTCG	0.657000														49			26		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506604	11506604	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:11506604C>T	uc001qzw.1	-	2	470	c.433G>A	c.(433-435)Gga>Aga	p.G145R	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	145	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACTTGTCTCCTTGTGGGGGT	0.607000														52			22		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8562714	8562714	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:8562714C>T	uc002mkd.3	-	3	1573	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	552	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TCGTAGATCTCATCTGGGACC	0.507000														76			16		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028486	37028486	+	Missense_Mutation	SNP	C	G	G	rs142735792	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:37028486C>G	uc004ddl.2	+	0	2055	c.2003C>G	c.(2002-2004)cCg>cGg	p.P668R		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	668								p.P668Q(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTCTCCCCCCGGAGCCCCCC	0.642000														8			30		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47968883	47968883	+	Silent	SNP	G	A	A	rs142684649		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:47968883G>A	uc003tny.2	-	6	1012	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	326					cell-cell adhesion	integral to membrane		p.F326F(4)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AACTGTCCCCGAAATCCATCA	0.512000														83			81		0	0	1	0	0
CRELD1	78987	broad.mit.edu	37	3	9984768	9984768	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:9984768C>T	uc003buf.3	+	8	924	c.825C>T	c.(823-825)gcC>gcT	p.A275A	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Silent_p.A275A|CRELD1_uc003bug.3_Silent_p.A275A	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	275					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAGACTGTGCCAAGGCCTGCC	0.627000														66			30		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540684	55540684	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:55540684T>G	uc003xsd.1	+	3	4390	c.4242T>G	c.(4240-4242)caT>caG	p.H1414Q	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1414					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATAAGAAACATAGTTCTCTAG	0.343000														40			18		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120976657	120976657	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:120976657C>T	uc010rzo.2	+	1	182	c.182C>T	c.(181-183)cCt>cTt	p.P61L		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	61					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.V60I(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTGGCGTTCCTTACCGCACT	0.428000														62			75		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107588068	107588068	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:107588068G>A	uc004bcl.3	-	16	2842	c.2438C>T	c.(2437-2439)cCt>cTt	p.P813L		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	813					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCCTCCACAGGACTCTCAAA	0.512000														51			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075654	9075654	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9075654C>T	uc002mkp.3	-	2	11996	c.11792G>A	c.(11791-11793)aGa>aAa	p.R3931K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3932	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						AGGGGCAATTCTCTCATATGG	0.488000														28			12		0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977616	12977616	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:12977616G>A	uc003bxt.2	-	2	951	c.942C>T	c.(940-942)ccC>ccT	p.P314P	IQSEC1_uc003bxu.3_Silent_p.P192P|IQSEC1_uc011auw.1_Silent_p.P300P	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	314					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGGGCAGAGGGGGCGACAGCT	0.687000														52			30		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423853	56423853	+	Missense_Mutation	SNP	C	T	T	rs150988752		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56423853C>T	uc010ygg.2	-	4	1355	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	444	NACHT.						ATP binding	p.Y443Y(1)|p.Y443*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GACTGGAGATCGTAATACCTC	0.483000														45			30		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39881501	39881501	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:39881501C>T	uc001zkh.3	+	11	2051	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F	THBS1_uc010bbi.3_Silent_p.F96F	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	624	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCCCACGCTTCACCGGCTCAC	0.587000														70			40		0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	74001760	74001760	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:74001760C>T	uc003pgo.3	-	1	668	c.167G>A	c.(166-168)aGa>aAa	p.R56K	KHDC1_uc011dym.1_Non-coding_Transcript	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	56						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						CCTTGAGTTTCTCTCTGTAAA	0.418000														51			16		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998251	10998251	+	RNA	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:10998251C>T	uc002yis.1	-	10		c.2002G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCATCTGTTCCTTCCACTCC	0.378000														91			20		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874895	20874895	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:20874895C>T	uc010sii.2	+	8	1288	c.933C>T	c.(931-933)tcC>tcT	p.S311S	SLCO1C1_uc010sij.2_Silent_p.S262S|SLCO1C1_uc009zip.3_Silent_p.S145S|SLCO1C1_uc001rei.3_Silent_p.S311S|SLCO1C1_uc010sik.2_Silent_p.S193S	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	311					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.S311S(3)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTAATTCTTCCTCTGAGAAAT	0.373000														27			6		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47765069	47765069	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:47765069C>T	uc002lee.2	-	6	1311	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	407										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTTAGCTTCTCGTTGCACTAA	0.353000														21			10		0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56696603	56696603	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56696603G>A	uc002qmo.1	+	5	397	c.315G>A	c.(313-315)atG>atA	p.M105I	GALP_uc010eti.2_3'UTR	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	105					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TGCTCAGCATGAAAATTCCCA	0.433000														13			15		0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443904	61443904	+	Missense_Mutation	SNP	C	T	T	rs143724578		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61443904C>T	uc010qig.1	-	1	595	c.146G>A	c.(145-147)gGa>gAa	p.G49E		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	49					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.G49E(2)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCTGTTTTTCCTTTTCCTTC	0.428000														67			62		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11452338	11452338	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:11452338C>T	uc021zzo.1	-	17	3879	c.3627G>A	c.(3625-3627)gaG>gaA	p.E1209E	THSD7A_uc021zzn.1_Silent_p.E1207E	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1209	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGGGTTCTTTCTCAACAGCAT	0.418000										HNSCC(18;0.044)				31			7		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801775	67801775	+	Silent	SNP	G	C	C	rs143472326	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:67801775G>C	uc001vik.3	-	1	1490	c.798C>G	c.(796-798)ccC>ccG	p.P266P	PCDH9_uc001vil.3_Silent_p.P266P|PCDH9_uc010thl.2_Silent_p.P266P|PCDH9_uc001vin.3_Silent_p.P266P	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	266	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P266P(2)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGGTACCTACGGGAGCATTCT	0.493000														71			19		0	0	1	0	0
PROSC	11212	broad.mit.edu	37	8	37633525	37633525	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:37633525C>T	uc003xkh.3	+	6	764	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_007198	NP_009129	O94903	PROSC_HUMAN	Homo sapiens proline synthetase co-transcribed homolog (bacterial) (PROSC), mRNA.	229							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	CCGCGGATTTCCAGCATGCGG	0.572000														84			25		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	983033	983033	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:983033C>T	uc001ack.2	+	20	3647	c.3597C>T	c.(3595-3597)tcC>tcT	p.S1199S		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1199	SEA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGGCAAATCCGTCCGCGCCA	0.617000														26			35		0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186413436	186413436	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:186413436T>G	uc001gsa.3	-	3	489	c.416A>C	c.(415-417)cAc>cCc	p.H139P	MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Missense_Mutation_p.H87P	NM_002597	NP_072098	P20941	PHOS_HUMAN	Homo sapiens phosducin (PDC), transcript variant 1, mRNA.	139					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TTCATAAATGTGAACAACAAT	0.358000														41			39		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119101169	119101169	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:119101169C>T	uc003ecj.4	+	4	994	c.462C>T	c.(460-462)gcC>gcT	p.A154A		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	154	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GACACCTGGCCCATATCGCCT	0.522000														97			24		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106963148	106963148	+	RNA	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:106963148C>T	uc021ser.1	-	268		c.10582G>A								Parts of antibodies, mostly variable regions.																		GAAGGTGTATCCGGAAGCCTT	0.577000														61			17		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42264332	42264332	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:42264332G>A	uc001uyj.3	-	32	4016	c.3946C>T	c.(3946-3948)Ccg>Tcg	p.P1316S		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1316						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GTGCTGGGCGGCTCCTCTTTC	0.428000														51			28		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94007139	94007139	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:94007139G>A	uc001ybv.1	+	9	1038	c.955G>A	c.(955-957)Gat>Aat	p.D319N	UNC79_uc001ybs.1_Missense_Mutation_p.D319N|UNC79_uc001ybu.1_Missense_Mutation_p.D257N	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	496						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGATAAACACGATCAGAGGCT	0.438000														34			37		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242253362	242253362	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:242253362G>A	uc001hzn.2	-	10	1632	c.1405C>T	c.(1405-1407)Ctt>Ttt	p.L469F	PLD5_uc021pll.1_Missense_Mutation_p.L377F|PLD5_uc001hzl.4_Missense_Mutation_p.L407F|PLD5_uc001hzm.4_Missense_Mutation_p.L261F|PLD5_uc001hzo.2_Missense_Mutation_p.L377F	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	469						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTGATAACAAGGCCCGTGCCA	0.418000														54			16		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553106	106553106	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:106553106G>A	uc003prd.2	+	4	1305	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G	PRDM1_uc003pre.3_Silent_p.G223G	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	357					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GCAGCCCTGGGAATACGGTGT	0.627000			"""D, N, Mis, F, S"""		DLBCL									17			25		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196436863	196436863	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:196436863C>T	uc001gtd.1	-	6	573	c.513G>A	c.(511-513)tgG>tgA	p.W171*	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Nonsense_Mutation_p.W171*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.W171*|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Nonsense_Mutation_p.W171*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.W146*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	171						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTTTGGCAAGCCAACAGTTCA	0.294000														23			13		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221950	55221950	+	RNA	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:55221950G>A	uc002qgs.1	+	0		c.2350G>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CCTCAGGAGAGAACGTGACCC	0.637000														33			8		0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243328040	243328040	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:243328040C>T	uc021plo.1	-	12	3630	c.3222G>A	c.(3220-3222)acG>acA	p.T1074T	CEP170_uc021plp.1_Silent_p.T976T|CEP170_uc021plq.1_Silent_p.T976T|CEP170_uc001hzv.1_Silent_p.T452T	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	1074	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TCTTAGATTTCGTTACTTTAC	0.468000														44			7		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968147	64968147	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:64968147G>A	uc001jmn.3	-	9	3582	c.3282C>T	c.(3280-3282)ttC>ttT	p.F1094F	JMJD1C_uc001jml.3_Silent_p.F875F|JMJD1C_uc001jmm.3_Silent_p.F806F|JMJD1C_uc010qiq.2_Silent_p.F912F|JMJD1C_uc009xpi.3_Silent_p.F912F|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Silent_p.F131F	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1094					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACAATGTAGTGAAATAGTTAC	0.378000														128			37		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6533648	6533648	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:6533648C>T	uc001iji.1	-	6	970	c.886G>A	c.(886-888)Gat>Aat	p.D296N	PRKCQ_uc001ijj.2_Missense_Mutation_p.D263N|PRKCQ_uc009xim.2_Missense_Mutation_p.D263N|PRKCQ_uc009xin.2_Missense_Mutation_p.D227N|PRKCQ_uc010qax.2_Missense_Mutation_p.D138N	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	263					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GACTCACCATCACACTTGAGT	0.572000														25			22		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913246	6913246	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:6913246G>A	uc010rau.2	-	0	486	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCTCAGTATGAAGGTGGTGT	0.507000														29			39		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081679	152081679	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152081679G>A	uc009wne.1	-	2	4286	c.4014C>T	c.(4012-4014)ttC>ttT	p.F1338F	TCHH_uc001ezp.2_Silent_p.F1338F	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1338	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCGCGGAATTTTCTGT	0.552000														187			55		0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120965493	120965493	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:120965493G>A	uc003vjv.3	+	0	73	c.24G>A	c.(22-24)agG>agA	p.R8R		NM_016087	NP_057171	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 2, mRNA.	0					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CTTGCCTCAGGGAGACCCTCT	0.483000														96			16		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754619	141754619	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:141754619C>T	uc003vwy.3	+	26	3279	c.3225C>T	c.(3223-3225)tcC>tcT	p.S1075S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1075	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCATGCCATCCAGCACCCCTG	0.443000														69			37		0	0	1	0	0
BC035867	0	broad.mit.edu	37	22	20977010	20977010	+	RNA	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:20977010G>A	uc002zsv.3	-	4		c.1525C>T								Homo sapiens, clone IMAGE:5171202, mRNA.																		CCAGGGTCGAGAAATTCCATC	0.502000														7			7		0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147238	52147238	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:52147238G>A	uc002pxf.4	-	4	926	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	269	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GAGGAACAGGGACTGGCCCTC	0.612000														26			11		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7340486	7340486	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:7340486G>A	uc003bqm.2	+	2	1126	c.852G>A	c.(850-852)gtG>gtA	p.V284V	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.V284V|GRM7_uc003bql.2_Silent_p.V284V|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	284					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGCCGTCGTGATTTTTGCCA	0.453000														38			20		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642372	57642372	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:57642372C>T	uc002qny.3	+	3	2685	c.2329C>T	c.(2329-2331)Caa>Taa	p.Q777*	USP29_uc021vci.1_Nonsense_Mutation_p.Q777*	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	777					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTAAGACTTCAAAAGGCTGA	0.463000														22			13		0	0	1	0	0
C8orf4	56892	broad.mit.edu	37	8	40011117	40011117	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:40011117C>T	uc003xnq.2	+	0	131	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_020130	NP_064515	Q9NR00	CH004_HUMAN	Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA.	22					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		GCCCATCCATCCATGGCTACC	0.517000														36			24		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346606	48346606	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:48346606C>T	uc010rhv.2	+	0	114	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CAGAATTTTTCATGCTGGGGC	0.418000														78			33		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85984961	85984961	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:85984961G>A	uc003dql.3	+	5	724	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	CADM2_uc003dqj.3_Missense_Mutation_p.E240K|CADM2_uc003dqk.3_Missense_Mutation_p.E249K|CADM2_uc003dqm.2_Missense_Mutation_p.E132K|CADM2_uc021xay.1_Missense_Mutation_p.E132K|CADM2_uc021xaz.1_Missense_Mutation_p.E132K|CADM2_uc021xba.1_Missense_Mutation_p.E132K	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	240	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTTTCCACAAGAAGGACAGCC	0.294000														111			43		0	0	1	0	0
TRA	0	broad.mit.edu	37	14	22180858	22180858	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22180858G>A	uc021roz.1	+	1	138	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K						Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280.																		AGCTGTGGTGGAAATCTTCTG	0.458000														70			59		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196801411	196801411	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:196801411C>T	uc002utj.4	-	19	3285	c.3184G>A	c.(3184-3186)Gaa>Aaa	p.E1062K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1062	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CGTTTCTTTTCCAAATATTCA	0.343000														47			7		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6421474	6421474	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:6421474C>T	uc001qnr.3	+	1	230	c.82C>T	c.(82-84)Cga>Tga	p.R28*	PLEKHG6_uc001qns.3_Nonsense_Mutation_p.R28*|PLEKHG6_uc010sew.2_Nonsense_Mutation_p.R28*|PLEKHG6_uc010sex.2_5'Flank	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	28					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R28*(4)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GGGCCGGCATCGAGCCTCTGC	0.622000														44			35		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77193719	77193719	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:77193719G>A	uc010xfg.2	+	2	1820	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E	NFATC1_uc002lnc.1_Missense_Mutation_p.G456E|NFATC1_uc010xff.1_Missense_Mutation_p.G456E|NFATC1_uc002lnd.3_Missense_Mutation_p.G456E|NFATC1_uc002lne.3_5'UTR|NFATC1_uc010xfh.2_Missense_Mutation_p.G456E|NFATC1_uc010xfi.1_Missense_Mutation_p.G443E|NFATC1_uc010xfj.2_5'UTR|NFATC1_uc002lnf.3_Missense_Mutation_p.G443E|NFATC1_uc002lng.3_Missense_Mutation_p.G443E|NFATC1_uc010xfk.2_Missense_Mutation_p.G443E	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	456	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCGTCGGCCGGAGGACACCCC	0.617000														41			33		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54852043	54852043	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:54852043C>T	uc002rxu.3	+	10	1534	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	SPTBN1_uc002rxv.1_Missense_Mutation_p.R429C|SPTBN1_uc002rxx.3_Missense_Mutation_p.R416C	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	429					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGATTTGATCGCAAGGCAGC	0.488000														40			11		0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153132898	153132898	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:153132898G>A	uc004fjb.3	-	15	2158	c.2050C>T	c.(2050-2052)Cac>Tac	p.H684Y	L1CAM_uc004fjc.3_Missense_Mutation_p.H684Y|L1CAM_uc010nuo.3_Missense_Mutation_p.H679Y	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	684	Fibronectin type-III 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGTGTAGTGGACATAGGGC	0.547000														35			96		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61497654	61497654	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:61497654C>T	uc002jal.4	+	24	4334	c.4311C>T	c.(4309-4311)ctC>ctT	p.L1437L	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Silent_p.L548L	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1437							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCCAGGGGCTCCCGGTCATCC	0.562000														14			14		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904144	5904144	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:5904144C>T	uc002wmg.3	+	3	1660	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	CHGB_uc010zqz.2_Nonsense_Mutation_p.Q135*	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	452						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAAGAAAACCAGATGGACAA	0.537000														99			43		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155798	151155798	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:151155798G>A	uc011bod.2	-	5	6551	c.6551C>T	c.(6550-6552)tCc>tTc	p.S2184F	IGSF10_uc011bob.2_Missense_Mutation_p.S211F|IGSF10_uc011boc.2_Missense_Mutation_p.S163F	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2184	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATGGAGAAGGAAATCATGTC	0.438000														62			37		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4966928	4966928	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrY:4966928C>T	uc004fqo.3	+	1	2043	c.1309C>T	c.(1309-1311)Cct>Tct	p.P437S	PCDH11Y_uc010nwg.1_Missense_Mutation_p.P426S|PCDH11Y_uc004fql.1_Missense_Mutation_p.P426S|PCDH11Y_uc004fqm.1_Missense_Mutation_p.P426S|PCDH11Y_uc004fqn.1_Missense_Mutation_p.P437S|PCDH11Y_uc004fqp.1_Missense_Mutation_p.P208S	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	437	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCATGAAATTCCTTTCAGATT	0.403000														68			23		0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104387193	104387193	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:104387193G>A	uc001tkh.1	-	9	1414	c.857C>T	c.(856-858)cCc>cTc	p.P286L	GLT8D2_uc001tki.1_Missense_Mutation_p.P286L	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	286						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GTGCCACAGGGGGTTAATTGT	0.428000														13			23		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249609	177249609	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:177249609C>T	uc001glf.3	+	7	1609	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S	FAM5B_uc001glg.3_Missense_Mutation_p.P328S	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	433						extracellular region		p.P433S(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AAGCACCTTTCCTGGCACTTT	0.562000														30			21		0	0	1	0	0
CD37	951	broad.mit.edu	37	19	49841245	49841245	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:49841245G>T	uc002pnd.3	+	4	527	c.406G>T	c.(406-408)Gag>Tag	p.E136*	AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_Nonsense_Mutation_p.E136*|CD37_uc010yan.1_Nonsense_Mutation_p.E68*|CD37_uc002pnf.3_Nonsense_Mutation_p.E108*|CD37_uc002pne.3_Nonsense_Mutation_p.E68*	NM_001774	NP_001035120	P11049	CD37_HUMAN	Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA.	136						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CAACCCCGAGGAGACCGCGGC	0.627000														40			4		0.000602214	0.000604033	1	1	0
KEL	3792	broad.mit.edu	37	7	142655503	142655503	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:142655503G>A	uc003wcb.3	-	4	623	c.413C>T	c.(412-414)tCc>tTc	p.S138F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	138					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGGTGCCAGGAATTCTGGAC	0.502000														35			33		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229357	3229357	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:3229357C>T	uc004crg.4	-	6	7044	c.6887G>A	c.(6886-6888)gGa>gAa	p.G2296E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2296	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTGGTGCGTCCACCGCTGTC	0.557000														13			46		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766826	88766826	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:88766826G>A	uc021xpx.1	+	3	911	c.899G>A	c.(898-900)gGa>gAa	p.G300E	MEPE_uc021xpu.1_Missense_Mutation_p.G269E|MEPE_uc021xpv.1_Missense_Mutation_p.G156E|MEPE_uc021xpw.1_Missense_Mutation_p.G156E|MEPE_uc010ikn.3_Missense_Mutation_p.G156E|MEPE_uc003hqy.3_Missense_Mutation_p.G269E|MEPE_uc021xpy.1_Missense_Mutation_p.G156E	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	269					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CCTGGTAAAGGAGAAGCTACT	0.458000														29			16		0	0	1	0	0
IFNGR2	3460	broad.mit.edu	37	21	34793892	34793892	+	Silent	SNP	C	T	T	rs142325229	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:34793892C>T	uc002yrp.4	+	2	960	c.312C>T	c.(310-312)ggC>ggT	p.G104G		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	104	Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CCTCAGCAGGCTTCCCAATGG	0.512000														71			47		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33952586	33952586	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:33952586C>T	uc001zhi.3	+	33	4654	c.4584C>T	c.(4582-4584)ccC>ccT	p.P1528P	RYR3_uc010bar.3_Silent_p.P1528P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1528	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCTGGAGCCCCTGCAGATGA	0.677000														6			4		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587335	42587335	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:42587335C>T	uc003xpi.1	+	4	1013	c.885C>T	c.(883-885)ctC>ctT	p.L295L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	295					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCATTCCTCTCATTGGAGAGT	0.408000														112			65		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394658	233394658	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:233394658G>A	uc001hvl.2	-	4	1185	c.950C>T	c.(949-951)aCc>aTc	p.T317I	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	317						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGCCACGATGGTGTCACATTG	0.587000														100			24		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96454742	96454742	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:96454742C>T	uc001kjv.4	+	3	876	c.550C>T	c.(550-552)Cat>Tat	p.H184Y	CYP2C19_uc001kjw.4_Missense_Mutation_p.H184Y|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	184					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGTTATTTTCCATGATCGATT	0.398000														59			14		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55096543	55096543	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:55096543T>C	uc001cxm.2	+	15	1942	c.1766T>C	c.(1765-1767)cTt>cCt	p.L589P		NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	589					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						ctgagtactcttaaagcaatc	0.527000														8			11		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76681160	76681160	+	RNA	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:76681160C>T	uc003ufy.2	+	4		c.1137C>T								Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) pseudogene (LOC100132832), non-coding RNA.																		GAATAAAGTTCCTGCTGAAAA	0.463000														33			8		0	0	1	0	0
EFHD2	79180	broad.mit.edu	37	1	15752469	15752469	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:15752469C>T	uc001awh.2	+	1	488	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_024329	NP_077305	Q96C19	EFHD2_HUMAN	Homo sapiens EF-hand domain family, member D2 (EFHD2), mRNA.	137	EF-hand 2.					membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AAAACATGATCAAGGAGGTGG	0.597000														39			29		0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745548	77745548	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:77745548C>T	uc002snr.3	-	2	1862	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	LRRTM4_uc002snq.3_Missense_Mutation_p.E483K|LRRTM4_uc002sns.2_Missense_Mutation_p.E483K|LRRTM4_uc002snt.2_Missense_Mutation_p.E484K	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	483						integral to membrane		p.E483D(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACATAATACTCCTGTAAAGGG	0.473000														26			16		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17367438	17367438	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:17367438G>A	uc002nfs.1	-	8	1425	c.1312C>T	c.(1312-1314)Cta>Tta	p.L438L	USHBP1_uc002nfr.1_Silent_p.L64L|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.L374L	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	438							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						ATCTTCATTAGAGAACGGCGC	0.597000														68			24		0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144809116	144809116	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:144809116G>A	uc003yzk.3	-	4	2584	c.2515C>T	c.(2515-2517)Cag>Tag	p.Q839*		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	839					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGTGGCTCTGGGCAGAGAGG	0.701000														15			4		0	0	1	0	0
ACOT6	641372	broad.mit.edu	37	14	74086379	74086379	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:74086379C>T	uc001xop.3	+	1	791	c.460C>T	c.(460-462)Cct>Tct	p.P154S		NM_001037162	NP_001032239	Q3I5F7	ACOT6_HUMAN	Homo sapiens acyl-CoA thioesterase 6 (ACOT6), mRNA.	154						cytosol	carboxylesterase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		ACCTTATTTTCCTCCTTCTAG	0.483000														49			8		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219180	155219180	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:155219180G>A	uc003inw.2	-	17	4921	c.4921C>T	c.(4921-4923)Cag>Tag	p.Q1641*		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1641	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGATTTTGCTGAAATTGAATT	0.433000														34			19		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67941949	67941949	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:67941949G>A	uc004dxb.3	+	10	2734	c.2520G>A	c.(2518-2520)atG>atA	p.M840I	STARD8_uc004dxa.3_Missense_Mutation_p.M760I|STARD8_uc004dxc.4_Missense_Mutation_p.M760I	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	760	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GTGACAACATGGCAGCCACCC	0.562000														8			10		0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27077075	27077075	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:27077075G>A	uc001mre.1	+	2	466	c.98G>A	c.(97-99)tGg>tAg	p.W33*	BBOX1_uc009yih.1_Nonsense_Mutation_p.W33*|BBOX1_uc001mrg.1_Nonsense_Mutation_p.W33*|BBOX1_uc021qfd.1_Nonsense_Mutation_p.W33*	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	33					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CCAGCTGTATGGTTGAGAGAC	0.473000														47			17		0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179077499	179077499	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:179077499G>A	uc001gmj.4	-	11	3190	c.2903C>T	c.(2902-2904)tCc>tTc	p.S968F	ABL2_uc010pnf.2_Missense_Mutation_p.S865F|ABL2_uc010png.2_Missense_Mutation_p.S844F|ABL2_uc010pnh.2_Missense_Mutation_p.S947F|ABL2_uc001gmg.4_Missense_Mutation_p.S850F|ABL2_uc001gmi.4_Missense_Mutation_p.S953F|ABL2_uc010pne.2_Missense_Mutation_p.S829F	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	968	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTCTCCAGAGGATGTGACCTG	0.537000			T	ETV6	AML									78			25		0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41850261	41850261	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:41850261G>A	uc003jmn.3	-	4	766	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_000436	NP_000427	P55809	SCOT1_HUMAN	Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA.	145					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CGCCTGCACGGATCCTCTCTG	0.507000														33			12		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211179661	211179661	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:211179661C>T	uc002vec.3	-	0	235	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	36					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TCAATTTTTTCTTCTTTGGGT	0.512000														102			79		0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100204113	100204113	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:100204113C>T	uc004axj.3	+	5	1036	c.811C>T	c.(811-813)Caa>Taa	p.Q271*	TDRD7_uc011lux.2_Nonsense_Mutation_p.Q197*	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	271	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGACCTTAATCAAGGAATTTT	0.358000														27			20		0	0	1	0	0
ATG14	22863	broad.mit.edu	37	14	55878504	55878504	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:55878504C>T	uc001xbx.2	-	0	73	c.37G>A	c.(37-39)Gag>Aag	p.E13K	FBXO34_uc001xbv.3_Intron	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.	13					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCAGGAGCCTCCAGCGCCCGG	0.687000														14			3		0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3131044	3131044	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:3131044C>T	uc010sej.2	+	9	1050	c.758C>T	c.(757-759)tCc>tTc	p.S253F	TEAD4_uc010sek.2_Missense_Mutation_p.S210F|TEAD4_uc001qln.3_Missense_Mutation_p.S124F	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	253					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			ATTGGCCAGTCCAGCCCAAGC	0.557000														39			38		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999833	72999833	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:72999833T>C	uc002lly.3	+	1	2899	c.2336T>C	c.(2335-2337)gTg>gCg	p.V779A	TSHZ1_uc021uln.1_Missense_Mutation_p.V779A	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	824						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTGTCCAGCGTGGCTGATTCG	0.572000														32			26		0	0	1	0	0
RHOXF2B	727940	broad.mit.edu	37	X	119293221	119293221	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:119293221G>A	uc004esl.4	+	1	570	c.380G>A	c.(379-381)gGg>gAg	p.G127E		NM_001099685	NP_115887	P0C7M4	RHF2B_HUMAN	Homo sapiens Rhox homeobox family, member 2B (RHOXF2B), mRNA.	127						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						GCCGTCGGGGGGCTGGAGCCT	0.662000														15			9		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8521497	8521497	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:8521497G>A	uc003zkk.3	-	19	1484	c.741C>T	c.(739-741)atC>atT	p.I247I	PTPRD_uc003zkp.3_Silent_p.I247I|PTPRD_uc003zkq.3_Silent_p.I247I|PTPRD_uc003zkr.3_Silent_p.I241I|PTPRD_uc003zks.3_Silent_p.I237I|PTPRD_uc022bdj.1_Silent_p.I244I	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	247	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGCCTGGCATGATTTCATGAT	0.468000										TSP Lung(15;0.13)				25			26		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390254	48390254	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:48390254C>T	uc001jez.3	-	0	738	c.624G>A	c.(622-624)acG>acA	p.T208T		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	208	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCAGATCTCCGTGGTGGTGT	0.612000														39			18		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13751296	13751296	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:13751296G>A	uc003jfd.2	-	64	11144	c.11102C>T	c.(11101-11103)cCa>cTa	p.P3701L	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3701	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P3701R(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTGTAGGCTGGGTTAGGCAA	0.418000									Kartagener syndrome					62			25		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120840528	120840528	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:120840528G>A	uc003eec.4	+	6	786	c.646G>A	c.(646-648)Gat>Aat	p.D216N	STXBP5L_uc011bji.2_Missense_Mutation_p.D216N	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	216					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACATTTAAGCGATAGCCCAAG	0.294000														33			17		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20597426	20597427	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:20597426_20597427GG>AA	uc003gpr.1	+	30	3493_3494	c.3289_3290GG>AA	c.(3289-3291)ggc>AAc	p.G1097N	SLIT2_uc003gps.1_Missense_Mutation_p.G1089N	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1097	EGF-like 5; calcium-binding (Potential).				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCAGTGAACGGCTATACGTGC	0.465000														47			39		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171252334	171252334	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:171252334G>A	uc009wvz.3	+	7	1371	c.1235G>A	c.(1234-1236)aGg>aAg	p.R412K	FMO1_uc010pme.2_Missense_Mutation_p.R349K|FMO1_uc001ghl.3_Missense_Mutation_p.R412K|FMO1_uc001ghm.3_Missense_Mutation_p.R412K	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	412					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTAATGCAAGGAAAGAAAAC	0.279000														89			13		0	0	1	0	0
KIAA1715	80856	broad.mit.edu	37	2	176794787	176794787	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:176794787C>T	uc010fqw.1	-	12	1393	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	KIAA1715_uc010zes.1_Missense_Mutation_p.E401K|KIAA1715_uc002ukd.1_Missense_Mutation_p.E276K|KIAA1715_uc002ukc.1_Missense_Mutation_p.E399K|KIAA1715_uc010zer.1_Missense_Mutation_p.E430K|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	399						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ACTGAGGCTTCCTCATTCTCA	0.433000														50			28		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48697069	48697069	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:48697069C>T	uc002irk.1	+	33	6179	c.5807C>T	c.(5806-5808)tCc>tTc	p.S1936F	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Missense_Mutation_p.S1902F|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Missense_Mutation_p.S1936F|CACNA1G_uc002irq.1_Missense_Mutation_p.S1913F|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Missense_Mutation_p.S1925F|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002iru.1_Missense_Mutation_p.S1902F|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Missense_Mutation_p.S1838F|CACNA1G_uc002ise.1_Missense_Mutation_p.S1804F|CACNA1G_uc002isf.1_Missense_Mutation_p.S1831F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1936					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GACACCATATCCCTGCTGATC	0.662000														17			8		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35873660	35873660	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:35873660C>T	uc003jjs.3	+	4	705	c.616C>T	c.(616-618)Cga>Tga	p.R206*	IL7R_uc011coo.2_Nonsense_Mutation_p.R206*|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	206	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GATTAAAGTTCGATCCATCCC	0.423000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							31			20		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121458628	121458628	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:121458628C>T	uc001tzj.1	-	5	1287	c.1281G>A	c.(1279-1281)ctG>ctA	p.L427L	OASL_uc001tzk.1_3'UTR	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	427	Ubiquitin-like 1.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGATGGTCTCCAGCAGATAGA	0.547000														181			35		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:13029765G>A	uc002wod.1	+	1	579	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_uc002woc.3_Missense_Mutation_p.R97K	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000														31			17		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92278801	92278801	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:92278801C>T	uc001xzu.4	-	2	347	c.156G>A	c.(154-156)aaG>aaA	p.K52K	TC2N_uc001xzt.4_Silent_p.K52K|TC2N_uc010auc.3_Silent_p.K52K|TC2N_uc001xzv.4_Silent_p.K52K	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	52						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CAAGCTGAGGCTTTACAGAAA	0.378000														14			20		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167517616	167517616	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:167517616G>A	uc010jjd.3	+	7	1553	c.1553G>A	c.(1552-1554)tGg>tAg	p.W518*	ODZ2_uc003lzq.2_Nonsense_Mutation_p.W397*|ODZ2_uc003lzr.4_Nonsense_Mutation_p.W286*	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AAGGAGAAGTGGAGTGTGGTT	0.532000														89			38		0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57373619	57373619	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:57373619C>T	uc001nkp.1	+	4	1013	c.822C>T	c.(820-822)atC>atT	p.I274I	SERPING1_uc010rju.1_Silent_p.I222I|SERPING1_uc010rjv.1_Silent_p.I279I|SERPING1_uc001nkr.1_Silent_p.I274I|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	274					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ACAACAAGATCAGCCGGCTGC	0.552000														109			59		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39424321	39424321	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:39424321G>A	uc001uwv.3	+	8	6835	c.6526G>A	c.(6526-6528)Gac>Aac	p.D2176N	FREM2_uc001uww.3_Missense_Mutation_p.D262N	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2176	Calx-beta 4.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGTGATGATGGACTTTGAAGA	0.453000														44			17		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113405371	113405371	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:113405371C>T	uc001tug.3	+	12	2925	c.2838C>T	c.(2836-2838)atC>atT	p.I946I		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	946	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGAGCCTGATCCGGCTGGTGA	0.567000														7			8		0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109520	21109520	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:21109520C>T	uc001vxv.1	-	0	331	c.331G>A	c.(331-333)Gcc>Acc	p.A111T		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AACTCGGAGGCCCCGAGAAAG	0.493000														54			13		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535170	50535170	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:50535170C>T	uc001zxz.3	-	11	1618	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	HDC_uc001zxy.3_Missense_Mutation_p.E169K|HDC_uc010uff.2_Missense_Mutation_p.E393K	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	426					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TTAGCTATTTCCTTTAACACA	0.473000														50			25		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119474335	119474335	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:119474335G>A	uc001ehl.1	-	1	323	c.8C>T	c.(7-9)tCc>tTc	p.S3F		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	109						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTCCTCCATGGAAGACATGGC	0.537000														40			14		0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43670089	43670089	+	Silent	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:43670089T>C	uc001zro.3	+	4	669	c.429T>C	c.(427-429)atT>atC	p.I143I	TUBGCP4_uc001zrn.3_Silent_p.I143I|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	143					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TAGAACAAATTAAAAGTCAAA	0.323000														65			38		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113545030	113545030	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:113545030C>T	uc001tun.2	-	15	1833	c.1532G>A	c.(1531-1533)gGa>gAa	p.G511E	RASAL1_uc010syp.2_Missense_Mutation_p.G510E|RASAL1_uc001tul.3_Missense_Mutation_p.G510E|RASAL1_uc001tum.2_Missense_Mutation_p.G510E|RASAL1_uc010syq.2_Missense_Mutation_p.G510E|RASAL1_uc001tuo.4_Missense_Mutation_p.G510E|RASAL1_uc010syr.2_3'UTR	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	510	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCCCAGGTTTCCAATGCTCTG	0.612000														23			4		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106982982	106982982	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:106982982T>A	uc001kyi.1	+	19	3070	c.2843T>A	c.(2842-2844)tTc>tAc	p.F948Y	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	948						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTACCTATTTCTGGTGGTTC	0.443000														94			80		0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59480687	59480687	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:59480687G>A	uc001nof.1	-	0	632	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						CAATGAGAGGGGGATGCTAAG	0.517000														53			21		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81374415	81374415	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:81374415C>T	uc003uhl.3	-	5	812	c.647G>A	c.(646-648)gGg>gAg	p.G216E	HGF_uc003uhm.3_Missense_Mutation_p.G211E|HGF_uc003uhn.1_Missense_Mutation_p.G216E|HGF_uc003uho.1_Missense_Mutation_p.G211E	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	216	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.G216W(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATAACTCTCCCCATTGCAGGT	0.413000														29			7		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990057	63990057	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:63990057C>T	uc003peh.3	-	3	1433	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	467					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGATCTTCTTCCAGTGCCACA	0.428000														59			37		0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167708113	167708113	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:167708113G>A	uc003qvq.3	+	1	371	c.196G>A	c.(196-198)Ggc>Agc	p.G66S	UNC93A_uc003qvr.3_Missense_Mutation_p.G66S	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	66						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGAGAGGCTGGGCTGCAAGGG	0.637000														77			56		0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180320171	180320171	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:180320171C>T	uc003fkk.3	+	0	254	c.122C>T	c.(121-123)cCa>cTa	p.P41L	TTC14_uc003fkl.3_Missense_Mutation_p.P41L|TTC14_uc003fkm.2_Missense_Mutation_p.P41L	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	41							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCCGCCGAGCCAGCCCGGGGC	0.652000														19			4		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60921788	60921788	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:60921788G>A	uc002ycq.3	-	7	1208	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	LAMA5_uc021wfw.1_Nonsense_Mutation_p.Q381*	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	381	Laminin EGF-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCAGGCTCTGGCTGGCGCGG	0.662000														24			9		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156447	70156447	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:70156447G>A	uc003hej.3	+	4	1230	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	410					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GAAGGCCAAGGGAGCAGCTGT	0.448000														98			25		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:20071504G>A	uc002wru.3	+	6	697	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_uc010gcw.2_Missense_Mutation_p.D149N|C20orf26_uc010zse.2_Missense_Mutation_p.D195N|C20orf26_uc010zsf.1_Missense_Mutation_p.D195N	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	195								p.D195N(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGACCATGACGATCTCATGCC	0.438000														91			49		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16670951	16670951	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:16670951G>A	uc003jft.4	-	38	6035	c.5567C>T	c.(5566-5568)tCc>tTc	p.S1856F	MYO10_uc011cnb.2_Missense_Mutation_p.S485F|MYO10_uc011cnc.2_Missense_Mutation_p.S735F|MYO10_uc011cnd.2_Missense_Mutation_p.S1213F|MYO10_uc011cne.2_Missense_Mutation_p.S1213F|MYO10_uc010itx.3_Missense_Mutation_p.S1478F	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1856	FERM.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCTCTGCAGGGAATAAACCTC	0.572000														36			27		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570559	20570559	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:20570559C>T	uc002dhj.4	-	4	598	c.388_splice	c.e4+1	p.G130_splice	ACSM2B_uc002dhk.4_Splice_Site_p.G130_splice|ACSM2B_uc010bwf.1_Splice_Site_p.G130_splice	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	130					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.G130C(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTTACCAACCTGCTCGAATG	0.562000														19			11		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46277839	46277839	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:46277839C>T	uc002xtk.3	+	18	3898	c.3637C>T	c.(3637-3639)Cag>Tag	p.Q1213*	NCOA3_uc002xtl.3_Nonsense_Mutation_p.Q1213*|NCOA3_uc002xtn.3_Nonsense_Mutation_p.Q1213*|NCOA3_uc010ght.2_Nonsense_Mutation_p.Q1208*|NCOA3_uc002xtm.3_Nonsense_Mutation_p.Q1213*|NCOA3_uc010zyc.2_Nonsense_Mutation_p.Q1008*	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1213	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GATGCAGCCCCAGgtgagctc	0.517000														28			11		0	0	1	0	0
FAM70B	348013	broad.mit.edu	37	13	114469087	114469087	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:114469087G>A	uc001vuh.3	+	2	74	c.47_splice	c.e2-1	p.E16_splice	FAM70B_uc010tkh.2_Splice_Site_p.E16_splice	NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	16						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CCTCCCCACAGAAGGGCTTTC	0.652000														55			33		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14846068	14846068	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:14846068T>C	uc003zlm.3	-	8	2099	c.1283A>G	c.(1282-1284)cAg>cGg	p.Q428R	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	428					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GGCTCGAGACTGCCCCTCAAG	0.488000														2			3		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11300507	11300507	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:11300507G>A	uc001asd.3	-	10	1760	c.1639C>T	c.(1639-1641)Ctt>Ttt	p.L547F		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	547					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTGTGCATAAGGACCAGGGAC	0.602000														47			49		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52734926	52734926	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:52734926C>T	uc001wzq.3	+	0	496	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	132						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	p.W131L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGAGTGCTGGCTCTCCCTAGG	0.622000														60			48		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661416	50661416	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:50661416G>A	uc001csb.2	+	4	960	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	ELAVL4_uc001cry.3_Missense_Mutation_p.R234Q|ELAVL4_uc001crz.3_Missense_Mutation_p.R231Q|ELAVL4_uc001csa.3_Missense_Mutation_p.R248Q|ELAVL4_uc001csc.3_Missense_Mutation_p.R231Q|ELAVL4_uc009vyu.3_Missense_Mutation_p.R236Q|ELAVL4_uc010omz.2_Missense_Mutation_p.R236Q	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	231					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCCCCCAACCGGCGCTACCCA	0.602000														48			44		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147516549	147516549	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:147516549G>A	uc003lox.2	+	32	3263	c.3190G>A	c.(3190-3192)Gaa>Aaa	p.E1064K	SPINK5_uc003loy.2_Missense_Mutation_p.E1094K	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	1064					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.E1064K(2)|p.E1094K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTAGGACGAATGACAGGA	0.393000														128			69		0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47504306	47504306	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:47504306C>T	uc001wwj.4	-	7	1885	c.1727G>A	c.(1726-1728)aGg>aAg	p.R576K	MDGA2_uc001wwi.4_Missense_Mutation_p.R278K|MDGA2_uc010ani.3_Missense_Mutation_p.R67K	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	507	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.S575L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGACATTTCCCTAGATACATT	0.423000														73			14		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38969230	38969230	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:38969230C>T	uc002oit.3	+	30	4740	c.4610C>T	c.(4609-4611)aCc>aTc	p.T1537I	RYR1_uc002oiu.3_Missense_Mutation_p.T1537I	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1537	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGAGCAACACCTTTTTCCAG	0.552000														42			9		0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7915542	7915542	+	Silent	SNP	C	T	T	rs63749078		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7915542C>T	uc002gjt.2	+	8	1904	c.1830C>T	c.(1828-1830)ctC>ctT	p.L610L		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	610	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CTGCGGCCCTCTGGGAGGGCA	0.617000														38			18		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67020377	67020377	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:67020377C>T	uc002jhu.3	-	16	2402	c.2259G>A	c.(2257-2259)ttG>ttA	p.L753L	ABCA9_uc010dez.3_Silent_p.L753L	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	753					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTGTCCTTTCCAAAGGCAAAA	0.358000														34			16		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375427	175375427	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:175375427C>T	uc001gkp.1	-	0	505	c.424G>A	c.(424-426)Gag>Aag	p.E142K	TNR_uc009wwu.1_Missense_Mutation_p.E142K|TNR_uc010pmz.1_Missense_Mutation_p.E142K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	142					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E142K(2)|p.I141I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCCAGCATCTCGATCCGGCTC	0.602000														33			36		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19058440	19058440	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:19058440G>A	uc002dfp.2	+	11	1739	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	TMC7_uc002dfq.3_Missense_Mutation_p.E537K|TMC7_uc010vap.2_Missense_Mutation_p.E427K	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	537						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GGGGCAGCAGGAGTTTGCCAT	0.527000														150			43		0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31195177	31195177	+	Splice_Site	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:31195177A>T	uc002ebf.3	+	4	296	c.191_splice	c.e4-2	p.T64_splice	FUS_uc002ebe.2_Splice_Site_p.T64_splice|FUS_uc002ebg.3_Splice_Site|FUS_uc002ebh.3_Intron|FUS_uc002ebk.1_5'Flank	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	64	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TTATCCTGGTAGCAGGCTATG	0.483000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									105			26		0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46447842	46447842	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:46447842G>A	uc002ldg.3	-	3	1468	c.1181C>T	c.(1180-1182)aCc>aTc	p.T394I	SMAD7_uc002ldf.3_Missense_Mutation_p.T206I|SMAD7_uc010xde.2_Missense_Mutation_p.T179I|SMAD7_uc021ujr.1_Missense_Mutation_p.T393I	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	394	MH2.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GATCTGCACGGTAAAGCCCGT	0.587000														27			7		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151105631	151105632	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:151105631_151105632CC>TT	uc003eyp.3	+	34	5146_5147	c.5017_5018CC>TT	c.(5017-5019)ccg>TTg	p.P1673L	MED12L_uc011bnz.2_Missense_Mutation_p.P1533L|MED12L_uc003eyy.1_Missense_Mutation_p.P836L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1673					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.P1673L(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAAGGTGTCCCCGTGGGACTTG	0.525000														103			12		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117691461	117691461	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:117691461C>T	uc001twn.2	-	17	3443	c.2732G>A	c.(2731-2733)gGa>gAa	p.G911E	NOS1_uc021ren.1_Missense_Mutation_p.G541E|NOS1_uc021reo.1_Missense_Mutation_p.G541E|NOS1_uc001twm.2_Missense_Mutation_p.G877E	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	877	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGCCAGGGGTCCAGCACTCTC	0.557000														45			38		0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55752867	55752867	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:55752867C>T	uc010kzl.3	-	4	683	c.583G>A	c.(583-585)Gag>Aag	p.E195K	FKBP9L_uc010kzk.3_Missense_Mutation_p.E84K|FKBP9L_uc003tqt.3_Missense_Mutation_p.E84K|FKBP9L_uc011kcs.2_Missense_Mutation_p.E84K|U6_uc022adq.1_5'Flank					Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.											endometrium(1)|kidney(1)|lung(3)	5						TTAGTTACCTCTTCCAGGAGG	0.542000														7			9		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110226369	110226369	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:110226369C>T	uc001tpj.2	-	11	2139	c.2044G>A	c.(2044-2046)Gac>Aac	p.D682N	TRPV4_uc001tpg.2_Missense_Mutation_p.D648N|TRPV4_uc021rdp.1_Missense_Mutation_p.D622N|TRPV4_uc001tph.2_Missense_Mutation_p.D635N|TRPV4_uc001tpi.2_Missense_Mutation_p.D575N|TRPV4_uc001tpk.2_Missense_Mutation_p.D682N	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	682					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ATCTCCAGGTCGCCCATGCCG	0.567000														69			41		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108348406	108348406	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:108348406C>T	uc003ymn.3	-	2	1015	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	ANGPT1_uc011lhv.2_5'UTR|ANGPT1_uc003ymo.3_Missense_Mutation_p.E183K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	183					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCAAGATTTCATTTGTCTGT	0.363000														24			10		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86869525	86869525	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:86869525G>A	uc004efa.2	+	2	861	c.679G>A	c.(679-681)Gga>Aga	p.G227R	KLHL4_uc004efb.2_Missense_Mutation_p.G227R	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	227	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.G227A(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CAGGATGGAAGGAGTAGATCC	0.398000														5			9		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97136260	97136260	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:97136260C>T	uc021rcc.1	+	18	2468	c.2390C>T	c.(2389-2391)tCc>tTc	p.S797F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	797										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						GATCCTATTTCCCTAAATGCC	0.368000														22			8		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29652877	29652877	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:29652877C>A	uc002hgg.3	+	36	5258	c.4875C>A	c.(4873-4875)taC>taA	p.Y1625*	NF1_uc002hgh.3_Nonsense_Mutation_p.Y1604*|NF1_uc002hgi.1_Nonsense_Mutation_p.Y637*|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1625	CRAL-TRIO.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)|p.Y1625*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCTGATATACCATGTCTTAC	0.343000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				38			41		1.41504e-22	1.43666e-22	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884716	228884716	+	Missense_Mutation	SNP	C	T	T	rs145402025		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:228884716C>T	uc002vpq.2	-	6	901	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	SPHKAP_uc002vpp.2_Missense_Mutation_p.R285Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R285Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	285						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCTGGAGATCGTTCTGTTTT	0.443000														135			34		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377265	77377265	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:77377265G>A	uc004ajl.1	-	25	4560	c.4322C>T	c.(4321-4323)tCc>tTc	p.S1441F	TRPM6_uc004ajk.1_Missense_Mutation_p.S1436F|TRPM6_uc022bib.1_Missense_Mutation_p.S1436F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.S397F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1441					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S1441F(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTGGCTTGGGAAAGAGGGGA	0.468000														69			45		0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35716365	35716365	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:35716365C>T	uc003ola.3	+	5	849	c.822C>T	c.(820-822)ctC>ctT	p.L274L	ARMC12_uc003olb.1_Silent_p.L237L	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	247							binding										CAGGGAGTCTCCTGTATGAGG	0.512000														50			41		0	0	1	0	0
FBXW4	6468	broad.mit.edu	37	10	103371486	103371486	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:103371486G>A	uc001kto.3	-	7	1364	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L		NM_022039	NP_071322	P57775	FBXW4_HUMAN	Homo sapiens F-box and WD repeat domain containing 4 (FBXW4), mRNA.	340					Wnt receptor signaling pathway|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		AGGCAGTACAGGGTGCTGTCG	0.602000														44			20		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113017	234113018	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:234113017_234113018CC>TT	uc010zmo.2	+	24	3287_3288	c.3134_3135CC>TT	c.(3133-3135)ccc>cTT	p.P1045L	INPP5D_uc010zmp.2_Missense_Mutation_p.P1044L	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1074	Pro-rich.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GGCGAGGGGCCCGGCAAGCAGG	0.703000														28			7		0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131475331	131475331	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:131475331G>A	uc004bvw.3	+	7	1229	c.836_splice	c.e7-1	p.G279_splice	PKN3_uc010myh.3_Splice_Site_p.G279_splice|PKN3_uc022bom.1_Splice_Site	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	279					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CTCCCCACAGGGACACTGCAG	0.682000														28			21		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73012741	73012741	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:73012741C>T	uc001sxa.3	+	12	2287	c.2257C>T	c.(2257-2259)Cct>Tct	p.P753S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	753					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGATTTTCTTCCTTGGCATGC	0.363000														51			14		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115335570	115335570	+	Missense_Mutation	SNP	G	A	A	rs140991083		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:115335570G>A	uc003kro.3	+	6	1650	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	496					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.E496K(1)									TGAAATACAGGAACTCTTTGA	0.358000														46			16		0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41932591	41932591	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:41932591G>A	uc001uyf.2	+	10	1563	c.1239G>A	c.(1237-1239)atG>atA	p.M413I	NAA16_uc010tfg.1_Non-coding_Transcript|NAA16_uc001uye.4_Missense_Mutation_p.M413I|NAA16_uc001uyd.4_3'UTR	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	413					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TATTCTATATGAAAGCAAAAA	0.318000														41			19		0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58001063	58001064	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:58001063_58001064CC>TT	uc001sow.1	+	4	754_755	c.417_418CC>TT	c.(415-420)ccccct>ccTTct	p.P140S	DTX3_uc001sov.1_Missense_Mutation_p.P133S|DTX3_uc001sox.1_Missense_Mutation_p.P133S|DTX3_uc001soy.1_Missense_Mutation_p.P133S|ARHGEF25_uc009zpy.3_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA.	140	Pro-rich.				Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GGGGGctcccccctcctcctcc	0.703000														6			4		0	0	1	0	0
CLC	1178	broad.mit.edu	37	19	40222069	40222069	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:40222069C>T	uc002omh.3	-	3	457	c.380G>A	c.(379-381)tGg>tAg	p.W127*		NM_001828	NP_001819	Q05315	LPPL_HUMAN	Homo sapiens Charcot-Leyden crystal protein (CLC), mRNA.	127	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		GATATCTCTCCACACTTGCAC	0.418000														107			83		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70961858	70961858	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:70961858C>T	uc003pfg.4	-	27	1996	c.1837G>A	c.(1837-1839)Gga>Aga	p.G613R	COL9A1_uc003pfe.4_Missense_Mutation_p.G186R|COL9A1_uc003pff.4_Missense_Mutation_p.G370R	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	613	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G613E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCCACCTCTCCTGGAGGCCCC	0.488000														133			111		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559700	140559700	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140559700G>A	uc011dai.2	+	0	2330	c.2085G>A	c.(2083-2085)ttG>ttA	p.L695L	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	695					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGCGTTGGCCTCGGTGT	0.677000														139			39		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187171545	187171545	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:187171545C>T	uc003iyy.3	+	6	818	c.747C>T	c.(745-747)atC>atT	p.I249I	KLKB1_uc011clc.2_Missense_Mutation_p.S37L|KLKB1_uc011cld.2_Silent_p.I211I	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	249	Apple 3.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.I249I(6)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TATGGAAAATCGAGTCACAAA	0.448000														62			16		0	0	1	0	0
AIDA	64853	broad.mit.edu	37	1	222860965	222860965	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:222860965G>A	uc001hnn.3	-	4	530	c.325C>T	c.(325-327)Cca>Tca	p.P109S	AIDA_uc001hno.3_Non-coding_Transcript|AIDA_uc010pus.2_Missense_Mutation_p.P85S	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN	Homo sapiens axin interactor, dorsalization associated (AIDA), mRNA.	109					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity			p.F108F(1)		kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						ACATCAAATGGGAATTCTTTA	0.259000														112			24		0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39851747	39851747	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:39851747C>T	uc003oow.3	+	14	1994	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S	DAAM2_uc003oox.3_Missense_Mutation_p.P619S|AX747174_uc003ooz.1_Non-coding_Transcript	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	619	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGAGCGTGTCCCTGGCACCGT	0.498000														30			12		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211501	38211501	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:38211501C>T	uc010abx.3	-	10	2723	c.2488G>A	c.(2488-2490)Gtt>Att	p.V830I	TRPC4_uc010abv.3_Missense_Mutation_p.V405I|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Missense_Mutation_p.V825I|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.V652I|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	825	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGCTCCTGAACCACCAGGGCA	0.423000														46			17		0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38644978	38644978	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:38644978G>A	uc010cxb.3	-	2	847	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	228	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.S228F(6)|p.N227I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GATGCTGGGGGAATTTGGGGG	0.647000														13			27		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14774959	14774959	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:14774959C>T	uc001rcd.3	-	21	2718	c.2581G>A	c.(2581-2583)Gat>Aat	p.D861N		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	861	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCATGATGATCAACAATGTGG	0.403000														17			14		0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111290825	111290825	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:111290825G>A	uc001vrc.3	+	9	1221	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	CARKD_uc010tjj.2_Missense_Mutation_p.D314N|CARKD_uc001vqz.3_Non-coding_Transcript|CARKD_uc001vra.3_Non-coding_Transcript|CARKD_uc010tjk.2_Missense_Mutation_p.D222N|CARKD_uc010tjl.2_Missense_Mutation_p.D201N|CARKD_uc001vrb.3_Missense_Mutation_p.D332N|CARKD_uc021rmn.1_Missense_Mutation_p.D111N	NM_018210	NP_060680	Q8IW45	CARKD_HUMAN	Homo sapiens carbohydrate kinase domain containing (CARKD), transcript variant 1, mRNA.	0										NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CACCACCTCCGACATGATCGC	0.637000														49			38		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78039341	78039341	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:78039341G>A	uc010dht.3	+	9	1529	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	CCDC40_uc010wub.2_Intron|CCDC40_uc021uem.1_Missense_Mutation_p.A500T|CCDC40_uc002jxm.4_Missense_Mutation_p.A283T	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	500					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCAGCAATGGGCCAGCAGCCT	0.657000														54			41		0	0	1	0	0
C2orf57	165100	broad.mit.edu	37	2	232458731	232458731	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:232458731A>C	uc002vrz.3	+	0	1157	c.1069A>C	c.(1069-1071)Atc>Ctc	p.I357L		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	Homo sapiens chromosome 2 open reading frame 57 (C2orf57), mRNA.	357										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CCTGCGCACCATCACCCGTGT	0.692000														44			17		0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614599	36614599	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:36614599C>T	uc021qge.1	-	0	1120	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	RAG1_uc001mwt.3_Non-coding_Transcript|RAG2_uc021qgc.1_Missense_Mutation_p.D374N|RAG2_uc021qgd.1_Missense_Mutation_p.D374N|RAG2_uc001mwv.4_Missense_Mutation_p.D374N|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	374					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGAGTGGAATCCCCTGGATCT	0.358000									Familial Hemophagocytic Lymphohistiocytosis					79			33		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7630451	7630451	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7630451C>T	uc002giu.1	+	2	254	c.240C>T	c.(238-240)ttC>ttT	p.F80F	DNAH2_uc002git.3_Silent_p.F80F|DNAH2_uc010vuk.2_Silent_p.F80F	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	80	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCCCCTCTTCCTTTCCCGAG	0.542000														36			31		0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33039749	33039749	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:33039749A>C	uc011kal.2	+	8	1589	c.1408A>C	c.(1408-1410)Aat>Cat	p.N470H	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Missense_Mutation_p.N417H|FKBP9_uc011kam.2_Missense_Mutation_p.N185H	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	417	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CAAAACTTACAATATTGTTCT	0.473000														100			21		0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113875605	113875605	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:113875605G>A	uc002tiz.3	+	1	136	c.10_splice	c.e1+1	p.A4_splice	IL1RN_uc002tix.1_Intron|IL1RN_uc002tiy.3_Splice_Site|IL1RN_uc002tja.3_Splice_Site_p.E4_splice	NM_173841	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 2, mRNA.	0					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CATGGCTTTAGGTAAGCTCCT	0.483000									Lichen Sclerosis et Atrophicus, Familial Clustering of					46			16		0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39616440	39616440	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:39616440G>A	uc002hwr.3	-	6	1330	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	423	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCACGCATGGGGAGGGCACAC	0.602000														8			7		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845207	107845207	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:107845207G>A	uc003hyi.3	-	3	1389	c.684C>T	c.(682-684)ttC>ttT	p.F228F	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	228	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CGCAACGCTGGAAAATTTCCA	0.493000														87			21		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29851524	29851524	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:29851524C>T	uc002dui.3	+	7	1087	c.935C>T	c.(934-936)cCa>cTa	p.P312L	BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Missense_Mutation_p.P312L|MVP_uc010vea.2_5'UTR	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	312					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	p.P312T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TTCCTCCAGCCAGGAGAGCAG	0.602000														28			5		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51297694	51297694	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:51297694C>T	uc011bds.2	+	22	2315	c.2292C>T	c.(2290-2292)ttC>ttT	p.F764F		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	764						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.F764F(1)|p.F753F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGAACTTTTCCAGTCCATCC	0.473000														20			7		0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213186679	213186679	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:213186679C>T	uc001hjz.3	-	1	296	c.141G>A	c.(139-141)tgG>tgA	p.W47*	ANGEL2_uc010pto.2_Intron|ANGEL2_uc010ptp.2_Intron|ANGEL2_uc001hka.3_Intron|ANGEL2_uc010ptq.2_Intron|ANGEL2_uc001hkb.3_Nonsense_Mutation_p.W25*	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.	47										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TATGTCTGTTCCAGCAACACC	0.453000														59			43		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41012777	41012777	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:41012777C>T	uc003jmj.4	-	29	3533	c.3043G>A	c.(3043-3045)Ggt>Agt	p.G1015S	HEATR7B2_uc003jmi.4_Missense_Mutation_p.G570S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1015							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTCTCCAGACCGTCCAGCATT	0.478000														68			34		0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195717061	195717061	+	Splice_Site	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:195717061C>A	uc011btq.1	-	1	90	c.-539_splice	c.e1+1		SDHAP1_uc003fvx.3_Splice_Site|SDHAP1_uc011btp.1_Splice_Site					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		AGGGACTCACCGCCTTGGCCA	0.791000														6			3		1	1	1	1	0
ABCB4	5244	broad.mit.edu	37	7	87079386	87079386	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:87079386T>C	uc003uiv.1	-	7	807	c.731A>G	c.(730-732)aAa>aGa	p.K244R	ABCB4_uc003uiw.1_Missense_Mutation_p.K244R|ABCB4_uc003uix.1_Missense_Mutation_p.K244R	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	244	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AGCTAGTTCTTTGTCACTAAA	0.478000														58			17		0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866217	139866217	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:139866217G>A	uc004fbg.1	-	0	507	c.315C>T	c.(313-315)ttC>ttT	p.F105F	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	105	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GGTCTTCCAGGAAATCCGTGT	0.448000														21			63		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46787274	46787274	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:46787274C>T	uc011dwh.1	+	5	481	c.473C>T	c.(472-474)tCt>tTt	p.S158F	MEP1A_uc010jzh.1_Missense_Mutation_p.S130F|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.S30F	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	130	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGTGCTGGTCTGAGGTTGGT	0.413000														39			40		0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99861793	99861793	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:99861793C>T	uc002szw.1	-	3	426	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.E105K|LYG2_uc002szx.1_Missense_Mutation_p.E105K	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	105					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CCATGGCTTTCCCTGGAGATG	0.512000														66			10		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121391473	121391473	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:121391473C>T	uc001pxx.3	+	8	1448	c.1319C>T	c.(1318-1320)tCg>tTg	p.S440L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	440					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.S440S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AACATGAGATCGGTCATCACC	0.443000														14			23		0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43805789	43805789	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:43805789G>A	uc001ciw.3	+	4	890	c.845G>A	c.(844-846)gGa>gAa	p.G282E	MPL_uc001civ.3_Missense_Mutation_p.G282E|MPL_uc009vwr.3_Missense_Mutation_p.G275E	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	282					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACCTGCCTGGAGATGCAGGT	0.567000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							12			10		0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111637758	111637758	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:111637758C>T	uc001kyp.2	-	13	1361	c.1241_splice	c.e13+1	p.R414_splice	XPNPEP1_uc009xxt.2_Splice_Site_p.R414_splice|XPNPEP1_uc001kyq.2_Splice_Site_p.R300_splice|XPNPEP1_uc010qrb.2_Splice_Site_p.R414_splice|XPNPEP1_uc010qra.1_Splice_Site_p.R138_splice	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	371					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGATCCTTACCTGCGAAACTC	0.458000														53			34		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103206793	103206793	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:103206793C>T	uc022ajr.1	-	32	4974	c.4814G>A	c.(4813-4815)gGa>gAa	p.G1605E	RELN_uc022ajq.1_Missense_Mutation_p.G1605E|RELN_uc010liz.3_Missense_Mutation_p.G1605E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1605					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)		GTCTTGAAATCCAGTTTGAGA	0.413000														52			4		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534822	55534822	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:55534822G>A	uc003xsd.1	+	2	909	c.761G>A	c.(760-762)gGa>gAa	p.G254E	RP1_uc011ldy.1_Missense_Mutation_p.G254E	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	254					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.G254E(2)|p.G254*(1)|p.G64E(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCCCAAGGGAAATGCAAAG	0.418000														35			17		0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23306327	23306327	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:23306327G>A	uc003xdl.3	-	2	406	c.134C>T	c.(133-135)tCa>tTa	p.S45L	ENTPD4_uc011kzu.1_Missense_Mutation_p.S45L|ENTPD4_uc003xdm.3_Missense_Mutation_p.S45L|ENTPD4_uc011kzv.1_Missense_Mutation_p.S45L|ENTPD4_uc011kzw.1_Missense_Mutation_p.S11L	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	45					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	p.V44F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ATATAAAAGTGAAACAGCAGC	0.373000														56			43		0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24533825	24533825	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:24533825C>T	uc003nef.3	+	10	1560	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	ALDH5A1_uc003neg.3_Missense_Mutation_p.S498F	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	498					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GGATTAATTTCCTCTGTGGAG	0.517000														101			99		0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106647957	106647957	+	Silent	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:106647957A>G	uc003hxz.4	+	3	1188	c.1116A>G	c.(1114-1116)ggA>ggG	p.G372G	GSTCD_uc003hxx.2_Silent_p.G372G|GSTCD_uc003hxy.4_Silent_p.G285G|GSTCD_uc011cfb.2_5'UTR|GSTCD_uc010ils.2_Silent_p.G372G	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	372						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TATTTATAGGAGGACCAAGAC	0.363000														50			13		0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27024254	27024254	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:27024254C>T	uc003gsg.4	+	11	2405	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L	STIM2_uc003gsh.4_Missense_Mutation_p.S634L|STIM2_uc010iex.3_3'UTR|STIM2_uc010iey.3_3'UTR	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	626					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	p.P625P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CGAAAGATATCAAGAGATGAG	0.468000														69			24		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230001	21230001	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:21230001G>A	uc002red.3	-	25	9867	c.9739C>T	c.(9739-9741)Caa>Taa	p.Q3247*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3247					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGGAATTTGAAAGGTCCTG	0.398000														243			200		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5215581	5215581	+	Silent	SNP	G	A	A	rs142108661		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:5215581G>A	uc002mbv.3	-	26	4356	c.4122C>T	c.(4120-4122)ccC>ccT	p.P1374P	PTPRS_uc002mbu.1_Silent_p.P943P|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Silent_p.P1336P|PTPRS_uc002mbx.3_Silent_p.P931P|PTPRS_uc002mby.3_Silent_p.P927P	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1374					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGTCTGCGATGGGAATTGGCG	0.677000														72			11		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21494382	21494383	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:21494382_21494383GG>AA	uc002kuq.3	+	56	7424_7425	c.7338_7339GG>AA	c.(7336-7341)cgggac>cgAAac	p.D2447N	LAMA3_uc002kur.3_Missense_Mutation_p.D2391N|LAMA3_uc002kus.4_Missense_Mutation_p.D838N|LAMA3_uc002kut.4_Missense_Mutation_p.D782N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2447	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGCCTCCCGGGACTACATCGG	0.520000														33			24		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640235	7640235	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:7640235G>A	uc001qsz.3	-	7	1898	c.1770C>T	c.(1768-1770)acC>acT	p.T590T	CD163_uc001qta.3_Silent_p.T590T|CD163_uc009zfw.2_Silent_p.T623T	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	590	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCTCACACGGGGTCTTGCCAT	0.512000														58			34		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35608171	35608171	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:35608171C>T	uc003xjr.2	+	12	2335	c.2007C>T	c.(2005-2007)ctC>ctT	p.L669L	UNC5D_uc003xjs.2_Silent_p.L664L|UNC5D_uc003xju.2_Silent_p.L245L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	669					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)		GTCATGTGCTCCTGGACAGCT	0.493000														94			44		0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49793485	49793485	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:49793485G>A	uc002pmz.3	-	11	2340	c.2106C>T	c.(2104-2106)tcC>tcT	p.S702S	SLC6A16_uc002pna.3_3'UTR	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	702						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TTAGGGGTAGGGATGTGGAGG	0.468000														100			59		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35667297	35667297	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:35667297G>A	uc003jjo.3	+	8	1402	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	SPEF2_uc003jjn.1_Missense_Mutation_p.E431K|SPEF2_uc003jjq.4_Missense_Mutation_p.E431K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	431					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)			AGTATGTGCAGAAATTTTGGA	0.328000														32			13		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51910841	51910841	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:51910841G>A	uc003pah.1	-	23	2829	c.2553C>T	c.(2551-2553)tcC>tcT	p.S851S	PKHD1_uc003pai.3_Silent_p.S851S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	851					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGTGGACCAGGACAAGGTCC	0.453000														34			19		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586505	169586505	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:169586505T>C	uc001ggi.4	-	2	307	c.242A>G	c.(241-243)aAg>aGg	p.K81R	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Missense_Mutation_p.K81R	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	81	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGGTAGGACCTTATTGAGGTA	0.428000														99			32		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117810645	117810645	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:117810645C>T	uc004bjj.4	-	15	5158	c.4746G>A	c.(4744-4746)agG>agA	p.R1582R	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1582	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCTCCAGCTTCCTCTGGGTTC	0.527000														44			36		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2297713	2297713	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:2297713G>A	uc002wfx.4	+	6	767	c.670_splice	c.e6-1	p.I224_splice		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	224					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTTCTGCCCAGATCAATAGCA	0.547000														77			48		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941277	22941277	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:22941277C>T	uc021urt.1	-	3	1589	c.1434G>A	c.(1432-1434)gaG>gaA	p.E478E		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTAGGGTTTCTCTCCAGTAT	0.353000														11			13		0	0	1	0	0
YIPF1	54432	broad.mit.edu	37	1	54344369	54344369	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:54344369G>A	uc001cvu.3	-	4	593	c.222C>T	c.(220-222)tcC>tcT	p.S74S	YIPF1_uc001cvv.3_Non-coding_Transcript|YIPF1_uc001cvx.3_Non-coding_Transcript|YIPF1_uc001cvy.3_Non-coding_Transcript	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Homo sapiens Yip1 domain family, member 1 (YIPF1), transcript variant 1, mRNA.	74						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TCCAGAAGGGGGAGCTTTTCT	0.408000														40			11		0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109317	21109317	+	Silent	SNP	C	T	T	rs61743445		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:21109317C>T	uc001vxv.1	-	0	534	c.534G>A	c.(532-534)caG>caA	p.Q178Q		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AGAAGAAGTGCTGTACCACAG	0.597000														45			13		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835511	172835511	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:172835511C>T	uc003fin.4	-	1	195	c.11G>A	c.(10-12)gGa>gAa	p.G4E		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	4					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CCTACTGCTTCCTGCATCCAT	0.418000														80			35		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6690673	6690673	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:6690673G>A	uc010vtg.2	+	3	1375	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	FBXO39_uc010cls.1_Intron	NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	419								p.Q418*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GACCCTGCAGGAAATTTACAG	0.418000														31			10		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70919565	70919565	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:70919565G>A	uc021vjc.1	-	6	940	c.675C>T	c.(673-675)atC>atT	p.I225I	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.I225I|ADD2_uc002sgz.3_Silent_p.I225I|ADD2_uc010fdt.2_Silent_p.I225I|ADD2_uc002shc.2_Silent_p.I225I|ADD2_uc010fdu.2_Silent_p.I241I	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	225					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GCAGGTGGATGATGCAGCGCA	0.607000														17			13		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123243278	123243278	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:123243278G>A	uc021pzz.1	-	16	2882	c.2235C>T	c.(2233-2235)tcC>tcT	p.S745S	FGFR2_uc021pzv.1_Silent_p.S633S|FGFR2_uc021pzw.1_Silent_p.S630S|FGFR2_uc021pzx.1_Silent_p.S656S|FGFR2_uc021pzy.1_Silent_p.S746S|FGFR2_uc010qtl.2_Silent_p.S629S|FGFR2_uc010qtm.2_Silent_p.S628S|FGFR2_uc021qaa.1_Silent_p.S746S|FGFR2_uc021qab.1_Silent_p.S657S|FGFR2_uc021qac.1_Silent_p.S674S|FGFR2_uc001lfg.4_Silent_p.S353S|FGFR2_uc001lfk.1_Non-coding_Transcript	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	745	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TTGGTCTCTGGGAGGGCACTG	0.453000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					23			15		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39785559	39785559	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:39785559T>C	uc003xnm.3	+	9	1181	c.1067T>C	c.(1066-1068)aTt>aCt	p.I356T		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	356					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TACATCCTGATTCCTGCAAGC	0.488000														10			5		0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923341	159923341	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:159923341A>G	uc001fus.3	-	1	266	c.149T>C	c.(148-150)gTt>gCt	p.V50A	SLAMF9_uc009wtd.3_Missense_Mutation_p.V50A|SLAMF9_uc001fut.3_Missense_Mutation_p.V50A	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	50						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGTTCTCAACCTCTTCATC	0.532000														57			18		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153181966	153181966	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:153181966C>T	uc011dcy.2	+	14	2493	c.2466C>T	c.(2464-2466)atC>atT	p.I822I	GRIA1_uc003lva.4_Silent_p.I812I|GRIA1_uc003luy.4_Silent_p.I812I|GRIA1_uc003luz.4_Silent_p.I717I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.I732I|GRIA1_uc011dcx.2_Silent_p.I743I|GRIA1_uc011dcz.2_Silent_p.I822I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	812					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGTTCTACATCCTGATCGGAG	0.522000														104			57		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103787	53103787	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:53103787C>T	uc003tpz.3	+	0	439	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	141										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCATCGGGATCGCGCCCCCTG	0.716000														27			7		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639286	7639286	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:7639286A>G	uc001qsz.3	-	9	2395	c.2267T>C	c.(2266-2268)gTt>gCt	p.V756A	CD163_uc001qta.3_Missense_Mutation_p.V756A|CD163_uc009zfw.2_Missense_Mutation_p.V789A	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	756	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTGTCTGCAAACCACGTGGGC	0.547000														110			35		0	0	1	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814259	75814259	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:75814259C>T	uc010ths.2	-	0	259	c.218G>A	c.(217-219)gGa>gAa	p.G73E						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		TTTCTCTCTTCCCACATAAAG	0.368000														52			25		0	0	1	0	0
CNFN	84518	broad.mit.edu	37	19	42891524	42891524	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:42891524G>A	uc002otq.4	-	3	352	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	CNFN_uc002otp.4_Missense_Mutation_p.R73C	NM_032488	NP_115877	Q9BYD5	CNFN_HUMAN	Homo sapiens cornifelin (CNFN), mRNA.	73					keratinization	cornified envelope|cytoplasm				lung(1)|prostate(1)	2		Prostate(69;0.00899)				ATGCCGGTGCGGATGGAGTGC	0.716000														2			6		0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59405029	59405030	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:59405029_59405030AG>TA	uc003xtm.4	-	4	1160_1161	c.1097_1098CT>TA	c.(1096-1098)gct>gTA	p.A366V		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	366					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AATCCTCCTTAGCTGTCCGGAT	0.391000									Neonatal Giant Cell Hepatitis					61			23		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107735767	107735767	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:107735767G>A	uc010ljo.1	-	11	1460	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	LAMB4_uc003vey.2_Missense_Mutation_p.P459L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	459	Laminin EGF-like 4.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACTCCCAAGGGGGTTACAGTC	0.463000														43			15		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128486460	128486460	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:128486460G>A	uc003vnz.4	+	22	4279	c.4070G>A	c.(4069-4071)gGg>gAg	p.G1357E	FLNC_uc003voa.4_Missense_Mutation_p.G1357E	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1357					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGAGCCTTCGGGCCAGGCCTG	0.612000														34			13		0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54745902	54745902	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:54745902C>T	uc010erh.1	-	3	479	c.355_splice	c.e3+1	p.G119_splice	LILRB3_uc002qew.2_Splice_Site|LILRB3_uc002qer.1_Splice_Site|LILRB3_uc002qes.1_Splice_Site_p.G119_splice|LILRB3_uc002qeh.1_Splice_Site_p.G119_splice|LILRB3_uc002qeg.1_Splice_Site|LILRB3_uc002qei.1_Splice_Site_p.G119_splice|LILRB3_uc002qek.1_Splice_Site_p.G119_splice|LILRB3_uc002qej.1_Splice_Site|LILRB3_uc002qel.1_Splice_Site_p.G119_splice|LILRB3_uc002qem.1_Splice_Site|LILRB3_uc002qen.1_Splice_Site|LILRB3_uc002qeo.1_Splice_Site_p.G119_splice|LILRB3_uc002qep.1_Splice_Site_p.G119_splice|LILRB3_uc002qeq.1_Splice_Site_p.G119_splice|LILRB3_uc010yep.1_Splice_Site_p.G119_splice|LILRB3_uc010yeq.1_Splice_Site_p.G119_splice|LILRB3_uc002qet.3_Splice_Site|LILRB3_uc002qeu.1_Splice_Site_p.G119_splice|LILRB3_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	119	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTCCTCTCACCTGTCATCACC	0.642000														139			45		0	0	1	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547721	9547721	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:9547721G>A	uc003bry.3	-	2	859	c.573C>T	c.(571-573)tcC>tcT	p.S191S		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	191						integral to membrane		p.L190H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					AGGCGAGGAAGGAGAGGATGA	0.632000														65			45		0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17755626	17755626	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:17755626G>A	uc001bal.3	-	1	404	c.355C>T	c.(355-357)Cga>Tga	p.R119*	RCC2_uc001bam.3_Nonsense_Mutation_p.R119*	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	119					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		p.R119R(1)|p.R119Q(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ACTTCTTTTCGACCAATCAAG	0.443000														54			30		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44571383	44571383	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:44571383C>T	uc003tlb.3	-	9	2664	c.2608G>A	c.(2608-2610)Gga>Aga	p.G870R	NPC1L1_uc011kbw.2_Intron|NPC1L1_uc003tlc.3_Missense_Mutation_p.G870R	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	870					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGGTCCAGTCCCACGCTGATG	0.622000														5			7		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223176405	223176405	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:223176405C>T	uc001hnu.2	+	9	1992	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	556	SSD.				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)		CGAATTTTTTCCTTTTATGAA	0.353000														443			124		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3888447	3888447	+	Missense_Mutation	SNP	G	A	A	rs147112564		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:3888447G>A	uc003bpt.4	+	1	2883	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.D708N	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	708						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)		AACCCAGGTCGACACATCCAG	0.443000														21			6		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56357780	56357780	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:56357780G>A	uc002ivu.1	-	1	372	c.195C>T	c.(193-195)tcC>tcT	p.S65S		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	65					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCTCCTCCATGGAGCTCAGCA	0.647000														31			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179600488	179600488	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179600488C>T	uc021vsy.1	-	46	11178	c.10953G>A	c.(10951-10953)gaG>gaA	p.E3651E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.E312E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4578	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E3651D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGCACAGGCTCTAATTCTT	0.428000														16			17		0	0	1	0	0
OR9G9	390174	broad.mit.edu	37	11	56467982	56467982	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:56467982G>A	uc010rjn.2	+	0	119	c.119G>A	c.(118-120)gGa>gAa	p.G40E	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G40E(1)									ACTGTGGTAGGAAATAGCACC	0.493000														96			14		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258459	9258459	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:9258459C>T	uc002knv.3	+	8	5458	c.5194C>T	c.(5194-5196)Cct>Tct	p.P1732S	ANKRD12_uc002knw.3_Missense_Mutation_p.P1709S|ANKRD12_uc002knx.3_Missense_Mutation_p.P1709S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1439S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1732						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAACCAAATCCCTCAAAGAAT	0.343000														16			8		0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94259138	94259138	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:94259138G>A	uc011kid.1	-	2	344	c.233C>T	c.(232-234)tCc>tTc	p.S78F	SGCE_uc003unm.2_Missense_Mutation_p.S42F|SGCE_uc003unl.2_Missense_Mutation_p.S42F|SGCE_uc003unn.2_Missense_Mutation_p.S42F|SGCE_uc011kic.1_Intron	NM_003919	NP_003910	O43556	SGCE_HUMAN	Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA.	42				G -> S (in Ref. 3; AAM64204).	cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.G78G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGTACCTTGGAGAAAATACT	0.383000														30			30		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83195191	83195191	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:83195191C>T	uc001paj.2	-	16	2262	c.1959G>A	c.(1957-1959)caG>caA	p.Q653Q	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc021qof.1_Silent_p.Q692Q|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Silent_p.Q758Q|DLG2_uc010rtb.1_Silent_p.Q620Q|DLG2_uc010rsx.1_Intron|DLG2_uc010rsw.1_Intron	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	653						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CACTGGTTTCCTGCTCACTCT	0.403000														49			24		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167167182	167167182	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:167167182C>T	uc003fes.1	-	6	1074	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	SERPINI2_uc003fer.1_Missense_Mutation_p.E325K|SERPINI2_uc003fet.1_Missense_Mutation_p.E325K	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	325					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACATACACTTCAGATGAATCT	0.313000														22			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188634	140188634	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140188634C>T	uc003lhi.2	+	0	1963	c.1862C>T	c.(1861-1863)cCg>cTg	p.P621L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.P621L|PCDHAC2_uc011daa.2_Missense_Mutation_p.P621L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	632	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P621L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCATCCCGTTCCGCGTG	0.672000														65			36		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541955	133541955	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:133541955G>A	uc002ttp.3	-	13	2803	c.2429C>T	c.(2428-2430)tCa>tTa	p.S810L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	810							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTCTGAGGTGAAGACTTGCC	0.468000														182			45		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117424495	117424495	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:117424495G>A	uc003vjf.3	-	4	2174	c.2082C>T	c.(2080-2082)tcC>tcT	p.S694S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	694								p.P693S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AAGGGGTTAGGGAGGGTGACC	0.507000														76			24		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725652	106725652	+	RNA	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:106725652C>T	uc021ser.1	-	926		c.21961G>A								Parts of antibodies, mostly variable regions.																		GCCCAAACTCCATGGTGAGTT	0.458000														41			36		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460085	107460085	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:107460085C>T	uc002tdq.3	-	1	468	c.349G>A	c.(349-351)Ggg>Agg	p.G117R	ST6GAL2_uc002tdr.3_Missense_Mutation_p.G117R|ST6GAL2_uc002tds.3_Missense_Mutation_p.G117R	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	117					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.G117R(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GATTTTCTCCCCACCTGGGAT	0.532000														110			27		0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570385	248570385	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248570385G>A	uc010pzm.2	+	0	1090	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	364					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTCAAAGGGTGTCAGGAGG	0.512000														119			29		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111427208	111427208	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:111427208G>A	uc003dya.3	+	1	1169	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	PLCXD2_uc003dxz.3_Missense_Mutation_p.R200Q	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	200	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.R200Q(2)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TTGACGCTGCGAACTCTGTGG	0.512000														57			25		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231256845	231256845	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:231256845C>T	uc010fxm.1	+	11	1099	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	SP140L_uc010fxo.1_Silent_p.F108F	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	336	SAND.					nucleus	DNA binding|metal ion binding	p.F336F(3)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GAAAATGGTTCACCCCCATGG	0.527000														54			37		0	0	1	0	0
LOC286059	286059	broad.mit.edu	37	8	22938510	22938510	+	RNA	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:22938510G>A	uc003xcw.1	+	1		c.205G>A								Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain pseudogene (LOC286059), non-coding RNA.																		ACAGGCAAAAGCTGAAAGGGT	0.532000														39			11		0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53237048	53237048	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:53237048T>A	uc001cuj.3	+	2	748	c.553T>A	c.(553-555)Ttg>Atg	p.L185M	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Missense_Mutation_p.L176M	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	185							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AGTTGCCTCATTGCCAAGATT	0.478000														60			19		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829465	61829465	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61829465C>T	uc001jky.3	-	36	11512	c.11174G>A	c.(11173-11175)gGa>gAa	p.G3725E	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3725					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCAGAAATTCCCATTTTTAT	0.463000														109			83		0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114154101	114154101	+	Silent	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:114154101A>G	uc004bfe.1	-	29	3630	c.3630T>C	c.(3628-3630)gtT>gtC	p.V1210V		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTTCATGTTTAACTCTAAACC	0.353000														10			5		0	0	1	0	0
ZDHHC22	283576	broad.mit.edu	37	14	77605822	77605822	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:77605822G>A	uc010asp.3	-	1	463	c.260C>T	c.(259-261)aCt>aTt	p.T87I		NM_174976	NP_777636	Q8N966	ZDH22_HUMAN	Homo sapiens zinc finger, DHHC-type containing 22 (ZDHHC22), mRNA.	87						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GGGGCATGGAGTCTTCCTGGC	0.622000														5			8		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815737	23815737	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:23815737C>T	uc003gqs.3	-	7	1489	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	457					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GCTCGGATTTCCTGGTCTTGG	0.507000														32			25		0	0	1	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66498998	66498998	+	RNA	SNP	C	T	T	rs145167793	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:66498998C>T	uc011dxw.2	+	0		c.1227C>T								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		TTGTTTTTTTCCAATTAATGT	0.423000														21			13		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21938111	21938111	+	RNA	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:21938111C>T	uc010tzj.1	-	0		c.2629G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TCTTCCAGTTCTCTGTTATCA	0.537000														212			17		0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1517811	1517811	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:1517811C>T	uc002wfi.3	-	2	611	c.567G>A	c.(565-567)ctG>ctA	p.L189L		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	189						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CTGTGAGTCCCAGCAGCCGGA	0.617000														64			29		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7170304	7170304	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:7170304G>A	uc001qsj.3	+	6	1043	c.324G>A	c.(322-324)gtG>gtA	p.V108V	C1S_uc001qsk.3_Silent_p.V108V|C1S_uc001qsl.3_Silent_p.V108V|C1S_uc009zfr.3_5'UTR|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	108	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AACTCCAGGTGATCTTTAAGT	0.473000														50			25		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967600	4967600	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4967600G>A	uc010qys.2	-	0	731	c.731C>T	c.(730-732)tCa>tTa	p.S244L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S244*(2)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGTGAAACACAAGT	0.473000														134			18		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132451	91132452	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:91132451_91132452CC>TT	uc004efk.2	+	1	2057_2058	c.1212_1213CC>TT	c.(1210-1215)atccct>atTTct	p.P405S	PCDH11X_uc004efl.2_Missense_Mutation_p.P405S|PCDH11X_uc010nmv.2_Missense_Mutation_p.P405S|PCDH11X_uc004efm.2_Missense_Mutation_p.P405S|PCDH11X_uc004efn.2_Missense_Mutation_p.P405S|PCDH11X_uc004efo.2_Missense_Mutation_p.P405S|PCDH11X_uc004efh.2_Missense_Mutation_p.P405S|PCDH11X_uc004efj.1_Missense_Mutation_p.P405S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	405	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCATGAAATCCCTTTCAGATT	0.416000														22			4		0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200012959	200012959	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:200012959C>T	uc001gvb.3	+	2	466	c.260C>T	c.(259-261)cCc>cTc	p.P87L	NR5A2_uc001gvc.3_Missense_Mutation_p.P41L|NR5A2_uc009wzh.3_Missense_Mutation_p.P47L|NR5A2_uc010pph.2_Missense_Mutation_p.P15L	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	87					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GAGCTTTGTCCCGTGTGTGGA	0.373000														30			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13876802	13876802	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:13876802G>A	uc003jfd.2	-	21	3429	c.3387C>T	c.(3385-3387)tcC>tcT	p.S1129S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1129	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTTTTTGGTGGAGTTGATAA	0.388000									Kartagener syndrome					38			23		0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137230203	137230203	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:137230203C>T	uc003lby.3	+	3	485	c.429C>T	c.(427-429)gtC>gtT	p.V143V	PKD2L2_uc010jep.1_Silent_p.V83V|PKD2L2_uc003lbw.1_Silent_p.V143V|PKD2L2_uc003lbx.3_Silent_p.V143V	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	143						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CATGCAAAGTCTATTCATCTT	0.348000														53			20		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800741	185800741	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:185800741G>A	uc002uph.3	+	3	1212	c.618G>A	c.(616-618)ggG>ggA	p.G206G		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	206						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGCCCAGGGGATTCACAGAC	0.423000														37			22		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48431662	48431662	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:48431662G>A	uc003toq.2	+	37	11823	c.11799G>A	c.(11797-11799)cgG>cgA	p.R3933R	ABCA13_uc010kys.1_Silent_p.R1007R|ABCA13_uc003tos.1_Silent_p.R759R|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3933	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCACCGTCCGGGAACATTTGC	0.512000														42			13		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764874	77764874	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:77764874G>A	uc003yau.2	+	9	6104	c.5717G>A	c.(5716-5718)gGa>gAa	p.G1906E	ZFHX4_uc003yaw.1_Missense_Mutation_p.G1861E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1861						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGGGCCAGAGGAAATGCTGCC	0.443000										HNSCC(33;0.089)				18			6		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294019	25294019	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:25294019G>A	uc003abg.2	+	19	2425	c.2268G>A	c.(2266-2268)ggG>ggA	p.G756G	SGSM1_uc010guu.1_Silent_p.G701G|SGSM1_uc003abh.2_Silent_p.G695G|SGSM1_uc003abj.2_Silent_p.G640G|SGSM1_uc003abi.1_Silent_p.G676G	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	756	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCCCCAATGGGAACCTAGTGA	0.557000														14			9		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57957262	57957262	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:57957262C>T	uc002emt.2	-	17	1623	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	CNGB1_uc010cdh.2_Missense_Mutation_p.D514N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	520					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCAGCCTCATCATCCTCAGAG	0.577000														16			7		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50252883	50252883	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:50252883G>A	uc003cyn.4	+	4	503	c.362G>A	c.(361-363)gGg>gAg	p.G121E	SLC38A3_uc011bdl.2_Intron|SLC38A3_uc011bdm.2_Missense_Mutation_p.G53E	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	122					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AAGTCCTCAGGGGTCGTGGGT	0.582000														65			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091597	9091597	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9091597C>T	uc002mkp.3	-	0	422	c.218G>A	c.(217-219)gGa>gAa	p.G73E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	73	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						GGTGGTTCTTCCCACAACCGA	0.517000														85			24		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96950119	96950119	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:96950119G>A	uc002svu.3	-	30	4501	c.4369C>T	c.(4369-4371)Cac>Tac	p.H1457Y	SNRNP200_uc002svt.3_Missense_Mutation_p.H67Y|SNRNP200_uc010yuj.2_Non-coding_Transcript|SNRNP200_uc002svv.1_5'UTR	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1457	Helicase ATP-binding 2.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCGATAAGGTGGACCTCATCC	0.547000														38			30		0	0	1	0	0
LOC285501	285501	broad.mit.edu	37	4	178882054	178882054	+	RNA	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:178882054G>A	uc010iru.3	+	2		c.513G>A								Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA.														all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236)		all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884)		ATGCAATCTGGAAAAAGTACG	0.318000														45			47		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55063106	55063106	+	RNA	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:55063106G>A	uc021qjb.1	-	2		c.532C>T			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		TCTTCATGGAGAAATGCAGGC	0.388000														11			6		0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29040750	29040750	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:29040750C>T	uc001bra.3	+	9	1329	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	GMEB1_uc001bqz.3_Missense_Mutation_p.P386L|GMEB1_uc001brb.3_Missense_Mutation_p.P386L	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCTCCTCCTGTCCAGCAG	0.567000														32			27		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44071198	44071198	+	Splice_Site	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:44071198A>T	uc001cjr.3	+	19	3730	c.3390_splice	c.e19-2	p.R1130_splice	PTPRF_uc001cjs.3_Splice_Site_p.R1121_splice|PTPRF_uc001cju.3_Splice_Site_p.R508_splice|PTPRF_uc009vwt.3_Splice_Site_p.R690_splice|PTPRF_uc001cjv.3_Splice_Site_p.R590_splice|PTPRF_uc001cjw.3_Splice_Site_p.R356_splice	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1130					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGCCCACCCAGGTGGTTCTA	0.632000														36			11		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519205	50519205	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:50519205C>T	uc001zxw.3	+	6	1519	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	SLC27A2_uc010bes.3_Silent_p.I376I|SLC27A2_uc001zxx.3_Silent_p.I194I	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	429					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTTGCAAAATCACACAACTTA	0.358000														20			5		0	0	1	0	0
AHCYL1	10768	broad.mit.edu	37	1	110551662	110551662	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:110551662C>T	uc001dyx.3	+	1	415	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	AHCYL1_uc010ovw.2_5'UTR|AHCYL1_uc021ork.1_5'UTR|AHCYL1_uc010ovx.2_5'UTR|AHCYL1_uc001dyy.3_5'UTR	NM_006621	NP_001229605	O43865	SAHH2_HUMAN	Homo sapiens adenosylhomocysteinase-like 1 (AHCYL1), transcript variant 1, mRNA.	43					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		ATAGCAAATCCAGTTTGCTGA	0.393000														24			16		0	0	1	0	0
NEURL	9148	broad.mit.edu	37	10	105350125	105350125	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:105350125C>T	uc001kxh.3	+	5	2131	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	SH3PXD2A_uc010qqr.2_Intron|NEURL_uc021pxn.1_Missense_Mutation_p.S557F	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	574					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TACCGCAGCTCCTAGCCCGTT	0.632000														26			5		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061365	111061366	+	Missense_Mutation	DNP	AT	GC	GC			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:111061365_111061366AT>GC	uc001dzt.1	-	0	432_433	c.44_45AT>GC	c.(43-45)aat>aGC	p.N15S		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	15						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AATTATCAAAATTGACCAGCGC	0.530000														14			11		0	0	1	0	0
IL32	9235	broad.mit.edu	37	16	3117520	3117520	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:3117520C>T	uc002ctq.3	+	2	253	c.158C>T	c.(157-159)cCg>cTg	p.P53L	IL32_uc002ctn.3_Intron|IL32_uc002ctk.3_Intron|IL32_uc002cto.3_Missense_Mutation_p.P53L|IL32_uc010uwp.2_Intron|IL32_uc010btb.3_Intron|IL32_uc002ctl.3_Intron|IL32_uc002ctm.3_Intron|IL32_uc002ctp.3_Intron|IL32_uc010uwq.1_Missense_Mutation_p.P53L|IL32_uc002ctr.3_Intron|IL32_uc002ctt.3_Intron|IL32_uc010uwr.2_Intron|IL32_uc002ctu.3_Intron|IL32_uc021tbc.1_Intron	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	53					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GACAAGGATCCGGCCCTTTGG	0.552000														59			41		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187003926	187003926	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:187003926G>A	uc003iyq.3	+	3	1187	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	TLR3_uc011ckz.2_Missense_Mutation_p.M85I|TLR3_uc003iyr.3_Missense_Mutation_p.M85I	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	362					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ACCTTAACATGGAAGATAATG	0.353000														29			13		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540103	169540103	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:169540103G>A	uc003fgb.3	+	0	394	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	132								p.K131*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CGACCTGAAGGAAATTCCCGT	0.557000														61			21		0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5498852	5498852	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:5498852G>A	uc001iia.3	+	11	1824	c.1686G>A	c.(1684-1686)atG>atA	p.M562I	NET1_uc010qar.2_Missense_Mutation_p.M381I|NET1_uc001iib.3_Missense_Mutation_p.M508I|NET1_uc010qas.2_Missense_Mutation_p.M381I	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA.	562					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GCATGCAGATGGCAGAGGACA	0.527000														49			12		0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346534	29346534	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:29346534C>T	uc001zck.3	+	2	651	c.447C>T	c.(445-447)ccC>ccT	p.P149P	APBA2_uc010azj.2_Silent_p.P149P|APBA2_uc010uat.2_Silent_p.P149P|APBA2_uc001zcl.3_Silent_p.P149P|APBA2_uc010uas.1_Silent_p.P149P	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	149					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCCCGCACCCCCACGGCCACG	0.667000														25			28		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196602679	196602679	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:196602679C>T	uc002utj.4	-	64	12142	c.12041G>A	c.(12040-12042)cGa>cAa	p.R4014Q	DNAH7_uc002uti.4_Missense_Mutation_p.R497Q	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	4014					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCTACACCTCGTCCAATCCA	0.438000														29			9		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059796	152059796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152059796C>T	uc001ezo.1	-	2	427	c.362G>A	c.(361-363)tGg>tAg	p.W121*		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	121							calcium ion binding	p.Q120*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCCCACTGTCCACTGACCATC	0.443000														70			23		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601950	138601950	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:138601950G>A	uc011kql.2	-	1	2471	c.2422C>T	c.(2422-2424)Ctg>Ttg	p.L808L	KIAA1549_uc011kqj.2_Silent_p.L808L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	808						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGAGGTGTCAGAGTTGAGAAC	0.483000			O	BRAF	pilocytic astrocytoma									21			17		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36134888	36134888	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:36134888G>A	uc003gsq.2	-	19	3725	c.3387C>T	c.(3385-3387)ccC>ccT	p.P1129P		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1129	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.P1129L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCACTATAATGGGAACGTCAT	0.383000														22			17		0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	240043	240043	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:240043G>A	uc002cgc.1	-	8	1009	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	LUC7L_uc002cga.1_Missense_Mutation_p.R300W|LUC7L_uc002cgd.1_Non-coding_Transcript|LUC7L_uc002cge.1_Missense_Mutation_p.R300W|LUC7L_uc021szo.1_Missense_Mutation_p.R247W|LUC7L_uc002cgb.1_Missense_Mutation_p.R214W	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	Homo sapiens LUC7-like (S. cerevisiae) (LUC7L), transcript variant 2, mRNA.	300	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CGGTGGCGCCGATGTCTATCT	0.622000														28			6		0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15192694	15192694	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:15192694C>T	uc003zlr.2	-	9	862	c.825_splice	c.e9-1	p.K275_splice	TTC39B_uc003zlq.2_Splice_Site_p.K178_splice|TTC39B_uc011lmp.2_Splice_Site_p.K110_splice|TTC39B_uc010mie.2_Splice_Site_p.K273_splice|TTC39B_uc011lmr.2_Splice_Site_p.K206_splice|TTC39B_uc011lmq.2_Splice_Site_p.K275_splice|TTC39B_uc010mif.2_Splice_Site_p.K275_splice|TTC39B_uc003zls.1_Splice_Site_p.K110_splice|TTC39B_uc010mig.1_Splice_Site_p.K178_splice|TTC39B_uc011lms.2_Splice_Site	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	209							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AAGACATTCTCTGGGTTGAAG	0.348000														22			16		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21033868	21033868	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:21033868G>A	uc010sil.2	+	9	1476	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	SLCO1B3_uc001rek.3_Missense_Mutation_p.E471K|SLCO1B3_uc001rel.3_Missense_Mutation_p.E471K|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	471	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAGTCAGTGGGAACCAGTCTG	0.368000														53			31		0	0	1	0	0
MRPL54	116541	broad.mit.edu	37	19	3762665	3762665	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:3762665G>A	uc002lyq.4	+	1	1	c.-33_splice	c.e1-1		APBA3_uc002lyp.1_5'Flank	NM_172251	NP_758455	Q6P161	RM54_HUMAN	Homo sapiens mitochondrial ribosomal protein L54 (MRPL54), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCTTCCGGAAACGTGCAC	0.622000														64			63		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270875	84270875	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:84270875G>A	uc010voc.2	-	1	338	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	KCNG4_uc002fhu.1_Missense_Mutation_p.P73S	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	73						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P73R(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GTGCTCCAGGGGAGGAGATAC	0.617000														26			28		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465678	41465678	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:41465678C>T	uc002yyq.1	-	20	4272	c.3820G>A	c.(3820-3822)Gaa>Aaa	p.E1274K	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.	1274	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTGATGATTTCACTGCTGTTG	0.468000														29			8		0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510793	48510793	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:48510793G>A	uc010rhx.2	+	0	449	c.449G>A	c.(448-450)gGa>gAa	p.G150E		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGGGTTGGAGGATTTCTGCAC	0.438000														69			34		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882152	228882152	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:228882152C>T	uc002vpq.2	-	6	3465	c.3418G>A	c.(3418-3420)Gaa>Aaa	p.E1140K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1140K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1140K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1140						cytoplasm	protein binding	p.E1140K(3)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTCTCCCTTCATTTTCCATC	0.532000														27			25		0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22262479	22262479	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:22262479C>T	uc002dki.3	+	5	939	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	152	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CAGGAAGAAGCTCTCCAACTT	0.592000														116			26		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39792728	39792728	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:39792728C>T	uc010lwy.1	+	0	255	c.13C>T	c.(13-15)Cat>Tat	p.H5Y	IDO2_uc003xno.1_Non-coding_Transcript	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	0					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GTTGCATTTTCATTATTATGG	0.383000														103			49		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31429471	31429471	+	Missense_Mutation	SNP	C	T	T	rs150295058	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:31429471C>T	uc010cap.1	+	20	2627	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	ITGAD_uc002ebv.1_Missense_Mutation_p.R859C	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	859					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.R859C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AAGAAGCAGCCGCTGCAGTGT	0.557000														90			16		0	0	1	0	0
CDK15	65061	broad.mit.edu	37	2	202687588	202687588	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:202687588C>T	uc002uyt.2	+	4	554	c.505C>T	c.(505-507)Cac>Tac	p.H169Y	CDK15_uc010ftm.3_Missense_Mutation_p.H34Y|CDK15_uc002uys.2_Missense_Mutation_p.H118Y|CDK15_uc010ftn.1_Missense_Mutation_p.H118Y|CDK15_uc010fto.1_Missense_Mutation_p.H169Y	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	Homo sapiens cyclin-dependent kinase 15 (CDK15), mRNA.	169	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	TGACATAATCCACACCAAAGA	0.343000														102			20		0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100617210	100617210	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:100617210G>A	uc010nno.2	-	6	874	c.641C>T	c.(640-642)tCt>tTt	p.S214F	BTK_uc004ehg.2_Missense_Mutation_p.S180F|BTK_uc010nnn.2_Missense_Mutation_p.S180F|BTK_uc004ehi.3_Missense_Mutation_p.S180F	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	180	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTTCCGGTGAGAACTCCCAGG	0.493000									Agammaglobulinemia, X-linked					15			37		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233243914	233243914	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:233243914G>A	uc002vsq.3	+	2	363	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	66				M -> V (in Ref. 3; AAA51709).		anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CTTCAGGGATGGGGGTGTCTA	0.617000														39			33		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103940	53103940	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:53103940C>T	uc003tpz.3	+	0	592	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	192										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCTAGGTTCGACGGGCCGT	0.701000														33			28		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65413476	65413476	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:65413476C>T	uc011moz.2	+	7	1664	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	HEPH_uc004dwn.3_Silent_p.I458I|HEPH_uc004dwo.3_Silent_p.I188I|HEPH_uc010nkr.3_Silent_p.I458I|HEPH_uc011mpa.2_Silent_p.I458I	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	455	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATCTTGGAATCCTGGGTGAGG	0.423000														1			13		0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55252025	55252025	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:55252025G>A	uc001sgk.3	+	3	340	c.272G>A	c.(271-273)tGa>tAa	p.*91*		NM_058173	NP_477521	Q96DR8	MUCL1_HUMAN	Homo sapiens mucin-like 1 (MUCL1), mRNA.	0						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						GTGTGTCCCTGAGATGGAATC	0.428000														67			32		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35064522	35064522	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:35064522G>A	uc002xff.3	+	3	1445	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	DLGAP4_uc010zvp.2_Missense_Mutation_p.G337D	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	337					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GTGCCCGGCGGCGGCGGCGAG	0.701000														16			9		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929759	121929759	+	Missense_Mutation	SNP	C	T	T	rs151087333		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:121929759C>T	uc004bkc.2	-	7	2345	c.1889G>A	c.(1888-1890)cGa>cAa	p.R630Q		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	630					cell cycle arrest|cell death	cytoplasm	protein binding	p.R630Q(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGTCTCATTTCGCAGTAGGGT	0.537000														97			77		0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517570	20517570	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:20517570G>A	uc001bdb.3	+	1	600	c.516G>A	c.(514-516)agG>agA	p.R172R	UBXN10_uc021oia.1_Silent_p.R172R	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	Homo sapiens UBX domain protein 10 (UBXN10), mRNA.	172										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CCGTGGAGAGGAAATTCATCG	0.522000														29			30		0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248814048	248814048	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248814048G>A	uc010pzo.2	-	0	138	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGATGAGAATGATCTTGACCA	0.532000														30			4		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48616711	48616711	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:48616711C>T	uc003ctz.2	-	61	5309	c.5308_splice	c.e61-1	p.G1770_splice	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1770	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)		CCCGGTCACCCTGTGGAAAAT	0.602000														51			15		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87138779	87138779	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:87138779T>A	uc003uiz.2	-	26	3794	c.3301A>T	c.(3301-3303)Ata>Tta	p.I1101L	ABCB1_uc011khc.2_Missense_Mutation_p.I1037L	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1101	ABC transporter 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)	AGTCGCTTTATTTCTTTGCCA	0.458000														53			9		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7247224	7247224	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:7247224C>T	uc002ggd.2	+	7	824	c.618C>T	c.(616-618)ggC>ggT	p.G206G		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	206	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCCAGCAGGGCCATGAGGAGC	0.652000														7			6		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262487	7262487	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:7262487G>A	uc009xio.2	-	10	1307	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	SFMBT2_uc001ijn.2_Nonsense_Mutation_p.R406*|SFMBT2_uc010qay.2_Intron	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	406					regulation of transcription, DNA-dependent	nucleus		p.S405I(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTGAAACCTCGACTGAATGAT	0.502000														75			19		0	0	1	0	0
C6orf221	154288	broad.mit.edu	37	6	74073455	74073455	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:74073455G>A	uc003pgt.4	+	2	579	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	176								p.Q175P(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						GGAGGTGCAGGAGGCCGGGAC	0.692000														23			63		0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25770459	25770459	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:25770459C>T	uc003nfe.3	+	3	581	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.3_Silent_p.F91F	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	154					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGACCCTCTTCATTCCACTGG	0.493000														97			53		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451251	155451251	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:155451251C>T	uc003qqb.3	+	5	2167	c.894C>T	c.(892-894)tcC>tcT	p.S298S	TIAM2_uc003qqe.3_Silent_p.S298S	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	298					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCTCTCCTCCCTCCGGGAAC	0.597000														16			25		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31165076	31165076	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:31165076C>T	uc002rns.3	-	9	1577	c.937G>A	c.(937-939)Gag>Aag	p.E313K	GALNT14_uc002rnq.3_Missense_Mutation_p.E288K|GALNT14_uc010ymr.2_Missense_Mutation_p.E273K|GALNT14_uc002rnr.3_Missense_Mutation_p.E308K|GALNT14_uc010ezo.2_Missense_Mutation_p.E275K|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	308	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCAAAGTTCTCCCCACCCCAG	0.522000														58			22		0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4068976	4068976	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:4068976G>A	uc003mvx.3	-	6	1887	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Missense_Mutation_p.S431F	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	494																	AGCAATAAGGGAAGGCGACAA	0.378000														43			39		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952507	119952507	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:119952507G>A	uc010inb.3	+	3	2773	c.2577G>A	c.(2575-2577)gtG>gtA	p.V859V	SYNPO2_uc010ina.3_Silent_p.V859V|SYNPO2_uc003icm.4_Silent_p.V859V|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.V787V|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	859						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGGTGCAGTGGGACCATCCA	0.507000														73			18		0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92177817	92177817	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:92177817G>A	uc001doh.3	-	12	2664	c.2149C>T	c.(2149-2151)Ccc>Tcc	p.P717S	TGFBR3_uc009wde.3_Missense_Mutation_p.P412S|TGFBR3_uc010osy.2_Missense_Mutation_p.P675S|TGFBR3_uc001doi.3_Missense_Mutation_p.P716S|TGFBR3_uc001doj.3_Missense_Mutation_p.P716S	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	717	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AACTTCTGGGGGTGCTTCTCC	0.468000														7			12		0	0	1	0	0
AAGAB	79719	broad.mit.edu	37	15	67524189	67524189	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:67524189C>T	uc002aqk.4	-	4	603	c.498G>A	c.(496-498)ctG>ctA	p.L166L	AAGAB_uc010uju.2_Silent_p.L57L	NM_024666	NP_078942	Q6PD74	AAGAB_HUMAN	Homo sapiens alpha- and gamma-adaptin binding protein (AAGAB), mRNA.	166					protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CATTGGCATTCAGGGCTTGGA	0.368000														154			87		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38565283	38565283	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:38565283G>A	uc003auy.1	-	1	287	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	PLA2G6_uc003auz.1_Missense_Mutation_p.P51S|PLA2G6_uc003ava.1_Missense_Mutation_p.P51S|PLA2G6_uc003avb.2_Missense_Mutation_p.P51S|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Missense_Mutation_p.P51S	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	51					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GTGCGGTTGGGAGTGTTCTGG	0.577000														13			14		0	0	1	0	0
MOB2	81532	broad.mit.edu	37	11	1501680	1501680	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:1501680C>T	uc010qwz.2	-	2	470	c.308G>A	c.(307-309)aGc>aAc	p.S103N	MOB2_uc001ltq.2_Missense_Mutation_p.S66N|MOB2_uc001lto.2_5'UTR|MOB2_uc001ltp.1_5'UTR	NM_001172223	NP_001165694	Q70IA6	MOB2_HUMAN	Homo sapiens MOB kinase activator 2 (MOB2), transcript variant 1, mRNA.	72						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						GGAGATGGTGCTATACTGCAG	0.567000														106			39		0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985397	240985397	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:240985397G>A	uc010zoe.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGGTGAGCAGGAAGAGGAGGA	0.597000														40			44		0	0	1	0	0
RNF135	84282	broad.mit.edu	37	17	29325916	29325916	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:29325916C>T	uc002hfz.3	+	4	1142	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	RNF135_uc010csm.3_3'UTR|RNF135_uc002hga.3_3'UTR|RNF135_uc002hgb.3_3'UTR	NM_032322	NP_115698	Q8IUD6	RN135_HUMAN	Homo sapiens ring finger protein 135 (RNF135), transcript variant 1, mRNA.	336	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GGAGATGAGCCGCGACCAGGT	0.552000														22			16		0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86333812	86333812	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:86333812G>A	uc003pla.2	-	6	1226	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	SYNCRIP_uc003pku.3_Missense_Mutation_p.R229C|SYNCRIP_uc003pkv.3_Missense_Mutation_p.R229C|SYNCRIP_uc003pkw.3_Missense_Mutation_p.R229C|SYNCRIP_uc003pkx.3_Missense_Mutation_p.R77C|SYNCRIP_uc003pky.3_Missense_Mutation_p.R131C|SYNCRIP_uc003pkz.2_Missense_Mutation_p.R229C	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	229	RRM 1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TTTCCAGAACGAATTTCATGA	0.328000														18			20		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536986	146536986	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:146536986G>A	uc003weu.2	+	2	908	c.392G>A	c.(391-393)gGg>gAg	p.G131E		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	131	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.D130V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATCAAGATGGGAATATCTGG	0.413000										HNSCC(39;0.1)				25			7		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133099474	133099474	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:133099474C>T	uc003epi.3	+	3	1189	c.919C>T	c.(919-921)Cct>Tct	p.P307S	TMEM108_uc003eph.3_Missense_Mutation_p.P307S|TMEM108_uc003epj.1_Missense_Mutation_p.P307S|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	307						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTCAGGTGCCCCTGTCAGTCC	0.627000														22			16		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25594645	25594645	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:25594645C>T	uc011djw.2	+	31	3377	c.3009C>T	c.(3007-3009)gtC>gtT	p.V1003V	LRRC16A_uc010jpy.3_Silent_p.V1003V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1003	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTTTGCAGGTCTGTGCTGCCA	0.393000														49			20		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33412096	33412096	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:33412096C>T	uc021vft.1	+	5	1398	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y	LTBP1_uc002rou.3_Missense_Mutation_p.H133Y|LTBP1_uc002rov.3_Missense_Mutation_p.H133Y|LTBP1_uc010ymz.2_Missense_Mutation_p.H133Y|LTBP1_uc010yna.2_Missense_Mutation_p.H133Y	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	459					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCATGTCATCCATTCAACACA	0.512000														40			9		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23410835	23410835	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:23410835G>A	uc004dal.4	+	2	1208	c.1200G>A	c.(1198-1200)agG>agA	p.R400R		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	400	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGGCAGCCAGGATTTTCTGCT	0.468000														17			45		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928683	4928683	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4928683C>T	uc010qyq.2	+	0	84	c.84C>T	c.(82-84)tcC>tcT	p.S28S		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTGGTTCTCCATCCCCATTT	0.453000														83			22		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106969185	106969185	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:106969185G>A	uc003prh.3	+	1	3790	c.2878G>A	c.(2878-2880)Gaa>Aaa	p.E960K		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	960							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGATGATATGGAAAAGGCTAA	0.363000														20			20		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186678721	186678721	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:186678721G>A	uc002upl.3	+	17	20544	c.20544G>A	c.(20542-20544)acG>acA	p.T6848T	FSIP2_uc002upm.3_Non-coding_Transcript	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CACCAAAGACGATGCCTGAAA	0.428000														41			10		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64483972	64483972	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:64483972G>A	uc003jtp.3	-	21	3595	c.2781C>T	c.(2779-2781)atC>atT	p.I927I	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	927	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CGATCTTCCTGATGCAGAGCA	0.527000														141			88		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74288614	74288614	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:74288614G>A	uc002jrd.1	-	3	1876	c.1696C>T	c.(1696-1698)Caa>Taa	p.Q566*	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	566	Gln-rich.						protein binding	p.V565V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACTCCAGGTTGGACCAAACCA	0.532000														53			38		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256406	84256406	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:84256406C>T	uc010voc.2	-	2	1098	c.977G>A	c.(976-978)aGc>aAc	p.S326N		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	326						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CAGGTAGGAGCTCCCGCTCGG	0.677000														6			8		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412271	77412271	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:77412271G>A	uc001oyn.3	-	5	2123	c.2003C>T	c.(2002-2004)aCc>aTc	p.T668I	RSF1_uc001oym.3_Missense_Mutation_p.T416I	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	668					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTTTAGGGTTTCTAGGTC	0.438000														85			63		0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137542246	137542246	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:137542246G>A	uc003lcl.3	-	2	393	c.362C>T	c.(361-363)tCc>tTc	p.S121F	CDC23_uc003lcm.1_Missense_Mutation_p.S121F	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	121					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGATATCTGGAATACATATA	0.388000														46			31		0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110491825	110491825	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:110491825T>C	uc004epc.2	-	9	1647	c.1456A>G	c.(1456-1458)Atc>Gtc	p.I486V	CAPN6_uc011msu.2_Missense_Mutation_p.I231V	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	486	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TCAGAGAAGATTCTCAGGAGA	0.512000														5			13		0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135315146	135315146	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:135315146C>T	uc003vsw.3	+	34	5018	c.4987C>T	c.(4987-4989)Cag>Tag	p.Q1663*		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1663					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCTGCGCTGTCAGGATGTTAG	0.388000														38			27		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971121	+	Nonsense_Mutation	DNP	GG	AA	AA	rs121913388		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:21971120_21971121GG>AA	uc003zpk.3	-	1	543_544	c.237_238CC>TT	c.(235-240)acccga>acTTga	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.R80*|CDKN2A_uc003zpl.3_Missense_Mutation_p.P94L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.R80*(200)|p.?(44)|p.P135L(7)|p.T79fs*37(2)|p.R80Q(2)|p.T79fs*65(2)|p.E61_L94del(2)|p.R80fs*34(2)|p.R80?(2)|p.T79T(2)|p.T79I(2)|p.L65fs*38(1)|p.0(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.A68fs*3(1)|p.R80L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTGG	0.728000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				40			73		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79361257	79361257	+	Missense_Mutation	SNP	G	A	A	rs147141222	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:79361257G>A	uc021yaw.1	+	8	1342	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	384	EGF-like 3; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GATGAGTGTCGAAATGGAGCG	0.388000														62			35		0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85958165	85958165	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:85958165G>A	uc004ams.2	-	4	614	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	FRMD3_uc004amr.1_Missense_Mutation_p.H138Y|FRMD3_uc022bja.1_Missense_Mutation_p.H94Y	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	138	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGCGGCCATGAAAAATGTCC	0.463000														89			15		0	0	1	0	0
IFLTD1	160492	broad.mit.edu	37	12	25702438	25702438	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:25702438G>A	uc010sji.1	-	2	377	c.132C>T	c.(130-132)tcC>tcT	p.S44S	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc001rgs.2_Silent_p.S23S|IFLTD1_uc010sjj.2_Intron|IFLTD1_uc009zjc.2_Silent_p.S44S	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	23						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					ACATCTTTGGGGAAAAATGTA	0.338000														35			8		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196953216	196953216	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:196953216A>T	uc001gts.4	+	2	507	c.379A>T	c.(379-381)Att>Ttt	p.I127F		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	127	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGAGAAAAACATTTCGTGTGT	0.373000														21			24		0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94903657	94903657	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:94903657C>T	uc003kld.3	+	2	478	c.320C>T	c.(319-321)cCa>cTa	p.P107L	ARSK_uc010jbg.3_5'UTR|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	107						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		GGTCTAGATCCAAATTATACA	0.383000														32			18		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408881	50408881	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:50408881C>T	uc002xwh.4	-	1	242	c.141G>A	c.(139-141)gtG>gtA	p.V47V	SALL4_uc010gii.3_Silent_p.V47V|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	47					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGGTGGTTCACTGGAGCAC	0.547000														55			26		0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103921621	103921622	+	Missense_Mutation	DNP	GG	AA	AA	rs147728236		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:103921621_103921622GG>AA	uc001kup.2	+	11	2145_2146	c.1910_1911GG>AA	c.(1909-1911)agg>aAA	p.R637K	NOLC1_uc001kuo.2_Missense_Mutation_p.R627K|NOLC1_uc001kuq.2_Missense_Mutation_p.R628K|NOLC1_uc009xxb.1_Missense_Mutation_p.R346K|NOLC1_uc001kur.2_Missense_Mutation_p.R346K	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	627					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CCATTCCGAAGGGTCAGGGAGG	0.475000														50			6		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575403	136575403	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:136575403C>T	uc002tuu.1	-	5	1226	c.1215G>A	c.(1213-1215)ggG>ggA	p.G405G		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	405	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCACCCCTCTCCCACCCTCGG	0.622000														68			31		0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27277921	27277921	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:27277921C>T	uc001bni.2	-	1	1044	c.951G>A	c.(949-951)gaG>gaA	p.E317E	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	317								p.S316S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TTGAACGACCCTCCGAGGTCT	0.637000														6			5		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777099	137777099	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:137777099A>T	uc004cfg.1	+	4	326	c.316A>T	c.(316-318)Aag>Tag	p.K106*	FCN2_uc004cfh.1_Nonsense_Mutation_p.K68*	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	106	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCGTACCTGCAAGGACCTGCT	0.667000														31			23		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230923964	230923964	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:230923964C>T	uc002vqd.2	-	1	564	c.105G>A	c.(103-105)atG>atA	p.M35I	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.M35I|SLC16A14_uc002vqf.3_Missense_Mutation_p.M35I	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	35						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AGAGCACCATCATCCAAGCCC	0.502000														53			10		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831288	61831288	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61831288G>A	uc001jky.3	-	36	9689	c.9351C>T	c.(9349-9351)atC>atT	p.I3117I	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3117			I -> V (in dbSNP:rs28932171).		establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTGACTTATGATTTTTTTTA	0.403000														80			51		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548760	158548760	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:158548760C>T	uc010pin.2	-	0	930	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M310I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAGCATTTTTCATGTCCTTAT	0.438000														57			48		0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78445621	78445621	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:78445621G>A	uc002jyp.1	-	3	1146	c.988C>T	c.(988-990)Cag>Tag	p.Q330*		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	330	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GTGCCATCCTGGTAGGCCTCC	0.627000														28			17		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44832673	44832673	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:44832673G>A	uc010xwy.2	-	4	1824	c.1706C>T	c.(1705-1707)cCt>cTt	p.P569L	ZFP112_uc010ejj.3_Missense_Mutation_p.P552L|ZFP112_uc002ozc.4_Missense_Mutation_p.P546L|ZFP112_uc010xwz.2_Missense_Mutation_p.P551L	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H569N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						GCATTTATAAGGTTTCTCTCC	0.413000														83			15		0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10403297	10403297	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:10403297C>T	uc001aqx.4	+	33	3842	c.3640C>T	c.(3640-3642)Cag>Tag	p.Q1214*	KIF1B_uc001aqw.4_Nonsense_Mutation_p.Q1168*|KIF1B_uc001aqy.3_Nonsense_Mutation_p.Q1188*|KIF1B_uc001aqz.3_Nonsense_Mutation_p.Q1214*|KIF1B_uc001ara.3_Nonsense_Mutation_p.Q1174*|KIF1B_uc001arb.3_Nonsense_Mutation_p.Q1200*	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1214					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAGTCCGCCTCAGCCGTGCCG	0.453000														19			6		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678539	87678539	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:87678539C>T	uc002fkd.3	+	1	1312	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	353					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AACCTCATCCCCCTGCGGGCC	0.662000														17			20		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624139	154624139	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:154624139C>T	uc003inq.3	+	2	299	c.80C>T	c.(79-81)tCt>tTt	p.S27F	TLR2_uc003inr.3_Missense_Mutation_p.S27F|TLR2_uc003ins.3_Missense_Mutation_p.S27F|TLR2_uc021xtl.1_Missense_Mutation_p.S27F	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	27					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				AATCAGGCTTCTCTGTCTTGT	0.502000														42			32		0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48047157	48047157	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:48047157C>T	uc004diz.1	-	7	653	c.600G>A	c.(598-600)agG>agA	p.R200R	SSX5_uc004dja.1_Silent_p.R159R	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CATGTTTCCCCCTTTTGGGTC	0.483000														53			127		0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49274001	49274001	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:49274001G>A	uc003cwk.2	+	4	464	c.77G>A	c.(76-78)tGg>tAg	p.W26*	CCDC36_uc003cwl.4_Nonsense_Mutation_p.W26*|CCDC36_uc011bck.1_Nonsense_Mutation_p.W26*|CCDC36_uc010hkt.2_Non-coding_Transcript	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA.	26										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TCATCCAACTGGAATAATAAT	0.358000														26			16		0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40778159	40778159	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:40778159G>A	uc003gvj.4	+	6	1414	c.919G>A	c.(919-921)Gtt>Att	p.V307I	NSUN7_uc003gvi.4_Missense_Mutation_p.V307I	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATGGTACACAGTTTCCCACAT	0.368000														26			21		0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54618224	54618224	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:54618224C>T	uc003jpy.4	+	1	470	c.204C>T	c.(202-204)ttC>ttT	p.F68F	SKIV2L2_uc011cqi.2_Intron	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	68					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.F68I(1)		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)				ATGTAGATTTCGAAGGTACAG	0.318000														101			58		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048602	180048602	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:180048602C>T	uc003mlz.4	-	12	2039	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	FLT4_uc003mma.4_Missense_Mutation_p.E654K|FLT4_uc003mmb.1_Missense_Mutation_p.E187K|FLT4_uc011dgy.2_Missense_Mutation_p.E654K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	654	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCTTGCACTTCGCACACATAG	0.701000														22			20		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548718	158548718	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:158548718C>T	uc010pin.2	-	0	972	c.972G>A	c.(970-972)ttG>ttA	p.L324L		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATTATTTTTTCAAGGCAACTG	0.423000														75			47		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67664560	67664560	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:67664560G>A	uc002aqo.2	+	8	962	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	IQCH_uc010ujv.2_Missense_Mutation_p.E108K|IQCH_uc002aqn.2_Missense_Mutation_p.E116K|IQCH_uc002aqp.2_Missense_Mutation_p.E41K|IQCH_uc002aqq.2_Missense_Mutation_p.E37K	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	289										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AGCATTCAAGGAACATTTTAG	0.388000														46			24		0	0	1	0	0
T-Cell_Receptor_V-alpha_region	0	broad.mit.edu	37	14	22409557	22409557	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:22409557G>A	uc021rpl.1	+	2	90	c.47_splice	c.e2-1	p.G16_splice	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc001wck.3_Splice_Site_p.G16_splice					SubName: Full=V-alpha 22; Flags: Precursor; Fragment;																		TTTTCCCTAGGAAGAACCCGT	0.433000														5			8		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47660768	47660768	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:47660768A>T	uc002zir.1	-	25	5626	c.5590T>A	c.(5590-5592)Tgt>Agt	p.C1864S	MCM3AP-AS1_uc002zim.2_Non-coding_Transcript|MCM3AP-AS1_uc002zin.2_Silent_p.T63T|MCM3AP_uc002zio.1_Missense_Mutation_p.C359S|MCM3AP_uc002zip.1_Missense_Mutation_p.C605S|MCM3AP_uc002ziq.1_Missense_Mutation_p.C791S|MCM3AP-AS1_uc002zis.1_Non-coding_Transcript	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1864					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCGACAAACACTGCGCCAAG	0.522000														62			23		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21051236	21051236	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:21051236G>A	uc010vbe.2	-	32	4668	c.4668C>T	c.(4666-4668)gtC>gtT	p.V1556V		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1556	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGTAATCTGGGACCATCATGG	0.483000														39			29		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872049	108872049	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:108872049C>T	uc010ywo.2	+	3	421	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	141						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GGCCAGAAATCCCAAGGATTG	0.423000														100			25		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132405729	132405729	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:132405729G>A	uc001uje.3	+	26	3314	c.3046G>A	c.(3046-3048)Ggg>Agg	p.G1016R		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	1016					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCTCCTGGAGGGGCTGCAGCA	0.677000														30			18		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030165	95030165	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:95030165G>A	uc010avd.3	+	1	731	c.457G>A	c.(457-459)Gat>Aat	p.D153N	SERPINA4_uc001ydk.3_Missense_Mutation_p.D116N|SERPINA4_uc001ydl.3_Missense_Mutation_p.D116N	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	116					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GTCTGAGTCCGATGTCCATAG	0.637000														35			31		0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544000	154544000	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:154544000C>T	uc001ffg.3	+	4	965	c.701C>T	c.(700-702)cCg>cTg	p.P234L		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	234					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.P234P(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CGCCGCAAGCCGCTCTTCTAC	0.582000														78			24		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1443211	1443211	+	Silent	SNP	T	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:1443211T>G	uc003boz.3	+	20	3066	c.2799T>G	c.(2797-2799)tcT>tcG	p.S933S	CNTN6_uc011asj.2_Silent_p.S861S|CNTN6_uc003bpa.3_Silent_p.S933S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	933	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAATGAGTCTGAAGTTTTGG	0.363000														11			11		0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110036290	110036290	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:110036290C>T	uc003ptt.2	+	1	291	c.76C>T	c.(76-78)Cta>Tta	p.L26L	FIG4_uc011eau.1_5'UTR	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	26					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GAGATACTTTCTAGTTGGGAG	0.299000														12			22		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2298097	2298097	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:2298097G>A	uc002wfx.4	+	6	1046	c.949G>A	c.(949-951)Gga>Aga	p.G317R		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	317					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CGACCCCATGGGAAACCCCCT	0.517000														120			61		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58095799	58095799	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:58095799G>A	uc003djj.2	+	15	2551	c.2386G>A	c.(2386-2388)Gat>Aat	p.D796N	FLNB_uc010hne.2_Missense_Mutation_p.D796N|FLNB_uc003djk.2_Missense_Mutation_p.D796N|FLNB_uc010hnf.2_Missense_Mutation_p.D796N|FLNB_uc003djl.2_Missense_Mutation_p.D627N|FLNB_uc003djm.2_Missense_Mutation_p.D627N	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	796					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.794_795insD(1)|p.D794_V795insD(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAAGACGTGGATTTTGACAT	0.443000														115			71		0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32543175	32543175	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:32543175C>T	uc003zrb.3	-	2	1540	c.1348G>A	c.(1348-1350)Gtc>Atc	p.V450I	TOPORS_uc003zrc.3_Missense_Mutation_p.V385I	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	450	Interaction with SUMO1.|Required for sumoylation and localization to discrete nuclear foci.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CCTCCTGTGACAAGTTCTTCA	0.408000														39			23		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761808	55761808	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:55761808G>A	uc010riv.2	-	0	294	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97F(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ACATCTGTAGGAAGCAGCCAG	0.468000														51			29		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135744773	135744773	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:135744773C>T	uc002tue.1	-	6	1700	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E444K|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.E285K|YSK4_uc002tui.4_Missense_Mutation_p.E574K	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	557							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATGGGACCTTCAGTAGAAATC	0.423000														49			20		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789580	248789580	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248789580G>A	uc001ier.1	-	0	850	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGATGAGAGGATTAAGCATG	0.483000														50			8		0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822477	103822477	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:103822477G>A	uc003hww.3	-	11	1487	c.1345C>T	c.(1345-1347)Cct>Tct	p.P449S	SLC9B1_uc003hwu.3_Intron|SLC9B1_uc010ilm.3_Intron|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Missense_Mutation_p.P222S	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	449						integral to membrane	solute:hydrogen antiporter activity										AGAGCCAGAGGACCTAACACA	0.398000														131			6		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321362	52321362	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:52321362G>T	uc003xqu.4	-	16	2923	c.2822C>A	c.(2821-2823)cCc>cAc	p.P941H	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	941					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCACTCGGTGGGTGGGCCTGT	0.652000														13			11		3.07112e-06	3.09284e-06	1	1	0
ARHGAP6	395	broad.mit.edu	37	X	11204502	11204502	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:11204502C>T	uc004cup.1	-	4	2000	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.R376Q|ARHGAP6_uc004cum.1_Missense_Mutation_p.R173Q|ARHGAP6_uc004cun.1_Missense_Mutation_p.R196Q|ARHGAP6_uc010neb.1_Missense_Mutation_p.R198Q|ARHGAP6_uc011mif.1_Missense_Mutation_p.R173Q	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	376					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTCTAGTAGTCGAGACTGATT	0.428000														34			63		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61846503	61846503	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61846503C>T	uc001jky.3	-	29	4018	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	ANK3_uc001jkw.3_Missense_Mutation_p.G361E|ANK3_uc009xpa.3_Missense_Mutation_p.G361E|ANK3_uc001jkx.3_Missense_Mutation_p.G405E|ANK3_uc010qih.2_Missense_Mutation_p.G1228E|ANK3_uc001jkz.4_Missense_Mutation_p.G1221E|ANK3_uc001jla.1_Missense_Mutation_p.G293E|ANK3_uc001jlb.1_Missense_Mutation_p.G745E	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1227					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TACACCTTCTCCTGAGGGCGG	0.463000														53			36		0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58805842	58805842	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:58805842C>T	uc002qry.1	+	3	798	c.668C>T	c.(667-669)tCc>tTc	p.S223F	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CAGACAGGCTCCCCAGGAAAA	0.483000														16			15		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121381667	121381667	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:121381667C>T	uc003yox.3	+	46	5519	c.5254C>T	c.(5254-5256)Cct>Tct	p.P1752S	COL14A1_uc003yoz.3_Missense_Mutation_p.P717S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1752	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCCCAAGGTCCTTCTGGCCA	0.592000														78			30		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6873451	6873451	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:6873451G>A	uc002knc.3	+	7	4053	c.842G>A	c.(841-843)gGa>gAa	p.G281E	ARHGAP28_uc002kne.3_Missense_Mutation_p.G174E|ARHGAP28_uc010wzi.2_Missense_Mutation_p.G156E|ARHGAP28_uc002knf.3_Missense_Mutation_p.G165E	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	156					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACTGAAGCAGGAGATCTGTCT	0.348000														35			30		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52486179	52486179	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:52486179G>A	uc010bff.3	-	40	5311	c.5149C>T	c.(5149-5151)Cct>Tct	p.P1717S	GNB5_uc002abt.1_5'Flank|MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1717						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GGGGTAAAAGGAAATGTGACT	0.418000														79			20		0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114053547	114053547	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:114053547G>A	uc001kzr.1	+	4	535	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	179	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGAGGCATCCGAAATCGGTTC	0.408000														40			21		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186763	47186763	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:47186763C>T	uc001rpi.2	-	2	491	c.92G>A	c.(91-93)gGa>gAa	p.G31E	SLC38A4_uc001rpj.2_Missense_Mutation_p.G31E|SLC38A4_uc009zkl.2_Missense_Mutation_p.G31E	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	31					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTCTGAATTTCCTATCCCGAT	0.428000														83			64		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777101	137777101	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:137777101G>A	uc004cfg.1	+	4	328	c.318G>A	c.(316-318)aaG>aaA	p.K106K	FCN2_uc004cfh.1_Silent_p.K68K	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	106	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GTACCTGCAAGGACCTGCTAG	0.662000														32			24		0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205764127	205764127	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:205764127G>A	uc001hdh.1	-	9	2099	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	SLC41A1_uc001hdg.1_Silent_p.A30A	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	409						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAGGACCCGGGCTGAGCGAG	0.567000														31			23		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484247	43484247	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:43484247G>A	uc003tid.1	+	10	2081	c.1476G>A	c.(1474-1476)acG>acA	p.T492T	HECW1_uc011kbi.1_Silent_p.T492T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	492	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGAAGCAACGACCCAGAGCC	0.647000														15			7		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123226035	123226035	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:123226035G>A	uc003ieh.3	+	53	9614	c.9569G>A	c.(9568-9570)cGa>cAa	p.R3190Q	KIAA1109_uc003iel.1_Missense_Mutation_p.R1125Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3190					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTTCTAACCGACTTCAAACC	0.393000														20			21		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472126	71472126	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:71472126C>T	uc003hfl.3	+	12	1124	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	341					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ACCCAGCTTTCCTTACAGAGC	0.587000														21			10		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42732406	42732406	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:42732406C>T	uc003clv.1	+	4	1763	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	555										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CCTGGTCAGCCTGGTGGGTAC	0.602000														25			23		0	0	1	0	0
TCRBV2S1	0	broad.mit.edu	37	7	142334851	142334851	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:142334851C>T	uc003vzp.2	+	1	328	c.273C>T	c.(271-273)tcC>tcT	p.S91S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Silent_p.S92S|TCRBV2S1_uc022anq.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TGACCTTGTCCACTCTGACAG	0.547000														42			25		0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53384142	53384142	+	Missense_Mutation	SNP	A	G	G	rs145022961	byFrequency	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:53384142A>G	uc002qag.3	-	3	1428	c.1237T>C	c.(1237-1239)Tac>Cac	p.Y413H	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.Y359H|ZNF320_uc002qai.3_Missense_Mutation_p.Y413H	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y413C(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCACATTCGTAAAGTTTCTCT	0.393000														19			19		0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162280633	162280633	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:162280633C>T	uc002ubw.1	+	5	2246	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	TBR1_uc010foy.2_Silent_p.S361S	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	648						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CGCCCGTGTCCGAGAGTTCGT	0.632000														9			7		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958698	121958698	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:121958698G>A	uc003idq.1	-	3	955	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	143	Poly-Ser.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ATATAAACCGGATGGGGAACT	0.408000														45			31		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34276407	34276407	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:34276407G>A	uc001bxm.1	-	9	1560	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	CSMD2_uc001bxn.1_Silent_p.F421F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	421	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTGAATGGGGAAATTGGGGG	0.547000														101			27		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216419	111216419	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:111216419G>A	uc001dzv.1	-	0	1237	c.1013C>T	c.(1012-1014)cCt>cTt	p.P338L		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	338						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATAAAATAAGGAATGATGGC	0.542000														50			36		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366261	10366261	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:10366261G>A	uc002gmn.3	-	10	1040	c.929C>T	c.(928-930)cCa>cTa	p.P310L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	310	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GAAGTCATATGGGTTGGTGGT	0.418000														43			34		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31374047	31374047	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:31374047G>A	uc002ebt.3	+	11	1399	c.1332G>A	c.(1330-1332)agG>agA	p.R444R	ITGAX_uc002ebu.1_Silent_p.R444R|ITGAX_uc010vfk.1_Silent_p.R94R	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	444					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGCAATGGAGGATGAAGGCCG	0.657000														21			17		0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25314242	25314242	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:25314242C>T	uc001isi.4	+	2	2419	c.2090C>T	c.(2089-2091)tCa>tTa	p.S697L	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.S697L	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	697					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TTGCTGGGTTCATACAATGCA	0.408000														34			31		0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108970357	108970357	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:108970357G>A	uc003yms.3	-	4	1225	c.567C>T	c.(565-567)acC>acT	p.T189T	RSPO2_uc003ymq.3_Silent_p.T122T|RSPO2_uc003ymr.3_Silent_p.T125T	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	189	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			ATTCAGCAATGGTTGGACACA	0.438000														95			52		0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121458607	121458607	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:121458607G>A	uc001tzj.1	-	5	1308	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	OASL_uc001tzk.1_3'UTR	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	434	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAAGACCTGGATCTCGGAGG	0.542000														172			27		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516266	1516266	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:1516266G>A	uc003skn.2	-	36	5192	c.5091C>T	c.(5089-5091)ttC>ttT	p.F1697F		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1697					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCCCAGAGGAAGTCCAGAG	0.662000														37			27		0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762620	53762621	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:53762620_53762621CC>AT	uc002qbi.2	+	0	1076_1077	c.992_993CC>AT	c.(991-993)tcc>tAT	p.S331Y		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	331					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TACGCCCTTTCCTTCATCACCT	0.446000														89			53		0	0	1	0	0
SRM	6723	broad.mit.edu	37	1	11118916	11118916	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:11118916G>A	uc001arz.1	-	2	413	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L		NM_003132	NP_003123	P19623	SPEE_HUMAN	Homo sapiens spermidine synthase (SRM), mRNA.	108					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	ACCTCCCGCAGGACACCTCCA	0.667000														9			9		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393487	145393487	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:145393487C>T	uc003lnt.3	+	4	1160	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	SH3RF2_uc011dbl.1_Missense_Mutation_p.L308F	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	308							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGAACACTCTCAACCGGAT	0.587000														134			62		0	0	1	0	0
CD207	50489	broad.mit.edu	37	2	71060973	71060973	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:71060973G>A	uc002shg.3	-	2	416	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	123					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TTAACTTCAGGAACTGAGAAC	0.463000														41			14		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68184022	68184022	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:68184022G>A	uc003xxo.2	-	9	1877	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	496					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTCTGGAACAGATGAGACTCC	0.343000														41			21		0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43389845	43389845	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:43389845C>T	uc003cms.4	+	6	2426	c.2094C>T	c.(2092-2094)gtC>gtT	p.V698V	SNRK_uc003cmt.4_Silent_p.V698V|SNRK_uc010hik.3_Silent_p.V698V|SNRK_uc011azr.2_Silent_p.V492V	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	698					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CAGGGCAGGTCCCTGCAGTGG	0.458000														62			25		0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4558145	4558145	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:4558145G>A	uc010dud.2	-	2	400	c.138C>T	c.(136-138)ccC>ccT	p.P46P	SEMA6B_uc010xih.1_Silent_p.P46P	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	46	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.P46P(2)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACAAACACGGGATAGTGGT	0.637000											OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			19		0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579362	49579362	+	Missense_Mutation	SNP	G	A	A	rs137853046		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:49579362G>A	uc009zlf.3	-	3	1059	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	TUBA1A_uc001rtp.3_Missense_Mutation_p.P263S	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.	263			P -> T (in LIS3).		'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TGGATGCGGGGATAGGGCACC	0.498000														41			44		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321559	56321559	+	Silent	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:56321559G>T	uc010ygf.2	-	4	1128	c.417C>A	c.(415-417)acC>acA	p.T139T	NLRP11_uc002qlz.3_Silent_p.T40T|NLRP11_uc002qmb.3_Silent_p.T40T|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	139							ATP binding	p.T139I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATAATAGCTGGTAGAATCAT	0.368000														23			11		1.08611e-07	1.09434e-07	1	1	0
GTPBP4	23560	broad.mit.edu	37	10	1041878	1041878	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:1041878C>T	uc001ift.3	+	2	300	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	GTPBP4_uc010qac.1_Intron|GTPBP4_uc010qad.2_Intron|GTPBP4_uc010qae.2_Missense_Mutation_p.P30S	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	77					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.P77L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GGATATTCATCCGTTCTATGC	0.413000														23			6		0	0	1	0	0
TPT1	7178	broad.mit.edu	37	13	45912886	45912886	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:45912886G>A	uc001uzy.1	-	4	518	c.425C>T	c.(424-426)cCa>cTa	p.P142L	TPT1_uc001uzz.1_Missense_Mutation_p.P108L|SNORA31_uc001vaa.1_5'Flank|TPT1-AS1_uc010tfr.2_5'Flank|TPT1-AS1_uc001vac.3_5'Flank	NM_003295	NP_003286	P13693	TCTP_HUMAN	Homo sapiens tumor protein, translationally-controlled 1 (TPT1), mRNA.	142					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CATGCCATCTGGATTCATGTT	0.353000														43			16		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576994	33576994	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:33576994G>A	uc003jia.1	-	18	3300	c.3137C>T	c.(3136-3138)cCa>cTa	p.P1046L	ADAMTS12_uc010iuq.1_Missense_Mutation_p.P961L	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1046	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGATTGCTGGAGTGCTTGT	0.562000										HNSCC(64;0.19)				61			37		0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103432939	103432939	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:103432939T>A	uc004elw.3	+	4	1259	c.948T>A	c.(946-948)agT>agA	p.S316R	FAM199X_uc004elx.3_Intron	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA.	316	Ser-rich.									breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GAGCACACAGTGACAGCAACC	0.463000														91			30		0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46863646	46863646	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:46863646C>T	uc021tzm.1	-	11	1676	c.1641G>A	c.(1639-1641)atG>atA	p.M547I	TTLL6_uc002iob.3_Missense_Mutation_p.M240I|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Missense_Mutation_p.M300I|TTLL6_uc002iod.3_Missense_Mutation_p.M394I	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	499						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCTTCTTCTTCATTTGGAAGG	0.517000														312			183		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41547832	41547832	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:41547832G>A	uc003xok.3	-	32	4101	c.4017C>T	c.(4015-4017)tcC>tcT	p.S1339S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.S655S|ANK1_uc003xoi.3_Silent_p.S1339S|ANK1_uc003xoj.3_Silent_p.S1339S|ANK1_uc003xol.3_Silent_p.S1339S|ANK1_uc003xom.3_Silent_p.S1380S	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1339					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAAACGACAGGGACCCTCCCG	0.587000														51			28		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3067886	3067886	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:3067886C>T	uc003bpc.3	+	14	1926	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	CNTN4_uc003bpb.1_Silent_p.I201I|CNTN4_uc021wsg.1_Silent_p.I529I|CNTN4_uc003bpd.1_Silent_p.I529I|CNTN4_uc003bpe.3_Silent_p.I201I|CNTN4_uc003bpf.3_Silent_p.I201I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	529	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CGCTAGACATCGTGTTTACTT	0.438000														32			22		0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55887086	55887086	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:55887086C>T	uc010spo.2	+	0	940	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						AATTGCATTTCGTTTAAAAAA	0.279000														26			12		0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61113347	61113347	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:61113347G>A	uc001nre.3	+	16	1761	c.1504G>A	c.(1504-1506)Gcg>Acg	p.A502T	DAK_uc009ynm.1_Missense_Mutation_p.A432T	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	502	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TCTGTGGGCAGCGGGGCAGGA	0.597000														73			35		0	0	1	0	0
ZNF117	51351	broad.mit.edu	37	7	64439075	64439075	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:64439075G>A	uc003ttr.2	-	3	2159	c.874C>T	c.(874-876)Ctt>Ttt	p.L292F		NM_015852	NP_056936	Q03924	ZN117_HUMAN	Homo sapiens zinc finger protein 117 (ZNF117), mRNA.	292						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGTGTAGTAAGGGTTGAGGAC	0.358000														19			14		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54141948	54141948	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:54141948C>T	uc003xrh.1	-	2	1427	c.1052G>A	c.(1051-1053)aGg>aAg	p.R351K	OPRK1_uc022aup.1_Missense_Mutation_p.R231K|OPRK1_uc003xri.1_Missense_Mutation_p.R351K|OPRK1_uc010lyc.1_Missense_Mutation_p.R262K	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	351					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CCGCTCCATCCTCATCTTCAG	0.478000														44			22		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805667	102805667	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:102805667C>T	uc002tbs.3	+	2	316	c.190C>T	c.(190-192)Cca>Tca	p.P64S	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	64	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TAGCAAAATCCCAGTGTCCAA	0.418000														26			10		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41400092	41400092	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:41400092C>T	uc002xkg.3	-	4	851	c.667G>A	c.(667-669)Gac>Aac	p.D223N	PTPRT_uc010ggj.3_Missense_Mutation_p.D223N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	223	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.D223N(2)		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)				CAAAGCTTGTCATGCTGAGAC	0.498000														129			62		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121631533	121631533	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:121631533G>A	uc003idn.3	-	14	1909	c.1659C>T	c.(1657-1659)gcC>gcT	p.A553A	PRDM5_uc003ido.3_Silent_p.A522A|PRDM5_uc010ine.3_Missense_Mutation_p.L494F	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	553					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.A553T(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCTGGCTGAAGGCCTTGCTGC	0.483000														36			15		0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47836085	47836085	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:47836085G>A	uc004dir.3	-	6	1747	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ZNF182_uc004dis.3_Silent_p.F448F|ZNF182_uc004dit.3_Silent_p.F467F	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						ACTTCTGAGAGAAGGCTTTCT	0.408000														7			18		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605671	58605671	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:58605671G>A	uc010tro.2	-	2	718	c.520C>T	c.(520-522)Cct>Tct	p.P174S	C14orf37_uc001xdc.3_Missense_Mutation_p.P136S|C14orf37_uc001xdd.3_Missense_Mutation_p.P136S|C14orf37_uc001xde.3_Missense_Mutation_p.P136S	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	136						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCACTTTCAGGAGATATTCTC	0.483000														27			16		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46568713	46568713	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:46568713G>A	uc001ncv.2	-	3	642	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F	AMBRA1_uc009ylc.1_Missense_Mutation_p.L110F|AMBRA1_uc001ncu.1_Missense_Mutation_p.L110F|AMBRA1_uc010rgu.1_Missense_Mutation_p.L110F|AMBRA1_uc001ncw.2_Missense_Mutation_p.L110F|AMBRA1_uc001ncx.2_Missense_Mutation_p.L110F	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	110					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAAGCAATAAGGCCTGAGATG	0.433000														83			39		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115750982	115750982	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:115750982T>A	uc003ibu.3	-	12	3142	c.2463A>T	c.(2461-2463)aaA>aaT	p.K821N	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	821	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGCCTTTGCTTTTTCCAAGGC	0.328000														18			20		0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101041962	101041962	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:101041962G>A	uc002bwa.3	-	4	697	c.126C>T	c.(124-126)ctC>ctT	p.L42L	CERS3_uc002bvz.3_Silent_p.L31L|CERS3_uc002bwb.3_Silent_p.L31L	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	31						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TTACAAAGACGAGTCCATCGT	0.373000														30			15		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699839	136699839	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:136699839C>T	uc003vtf.1	+	3	850	c.227C>T	c.(226-228)tCc>tTc	p.S76F	CHRM2_uc003vtg.1_Missense_Mutation_p.S76F|CHRM2_uc003vti.1_Missense_Mutation_p.S76F|CHRM2_uc003vtm.1_Missense_Mutation_p.S76F|CHRM2_uc003vtj.1_Missense_Mutation_p.S76F|CHRM2_uc003vtk.1_Missense_Mutation_p.S76F|CHRM2_uc003vtl.1_Missense_Mutation_p.S76F|CHRM2_uc003vtn.1_Missense_Mutation_p.S76F|CHRM2_uc003vto.1_Missense_Mutation_p.S76F|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.S76F	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	76					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GGTGTTTTCTCCATGAACTTG	0.478000														81			69		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157509071	157509071	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:157509071C>T	uc009wsm.3	-	6	1365	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	FCRL5_uc001fqu.3_Missense_Mutation_p.A403T|FCRL5_uc010phv.1_Missense_Mutation_p.A403T|FCRL5_uc010phw.1_Missense_Mutation_p.A318T|FCRL5_uc001fqv.1_Missense_Mutation_p.A403T|FCRL5_uc010phx.2_Missense_Mutation_p.A154T	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	403	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCTCTCTGGGCTTCACAGTGA	0.542000														20			10		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55948779	55948779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:55948779C>T	uc003has.3	-	27	3988	c.3686G>A	c.(3685-3687)cGa>cAa	p.R1229Q	KDR_uc003hat.1_Missense_Mutation_p.R1229Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1229					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCGGCTCTTTCGCTTACTGTT	0.358000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				57			16		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165948835	165948835	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:165948835G>A	uc002ucx.3	-	26	5228	c.4736C>T	c.(4735-4737)tCc>tTc	p.S1579F	SCN3A_uc010zcy.2_Missense_Mutation_p.S62F|SCN3A_uc002ucy.3_Missense_Mutation_p.S1530F|SCN3A_uc002ucz.3_Missense_Mutation_p.S1530F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1579						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTGTCTGAGGGAGACGAGCTT	0.438000														38			19		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137304591	137304591	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:137304591G>A	uc003vtt.3	-	7	973	c.972C>T	c.(970-972)atC>atT	p.I324I	DGKI_uc003vtu.3_Silent_p.I24I	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	324					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCACCTTAATGATCCAAGTGG	0.507000														68			56		0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112901647	112901647	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:112901647C>T	uc003kqn.3	+	20	2975	c.2773C>T	c.(2773-2775)Ctt>Ttt	p.L925F		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	925							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.L925R(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AAAGAATTTTCTTTCACAGGC	0.378000														44			28		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169701994	169701994	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:169701994G>A	uc001ggm.4	-	2	340	c.183C>T	c.(181-183)tcC>tcT	p.S61S	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	61	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AGCTCAATATGGAGTTTAGGT	0.423000														41			35		0	0	1	0	0
DYRK2	8445	broad.mit.edu	37	12	68052220	68052220	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:68052220C>T	uc001str.4	+	2	1935	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	DYRK2_uc001sts.4_Silent_p.F438F|DYRK2_uc021raa.1_Silent_p.F438F	NM_006482	NP_003574	Q92630	DYRK2_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2), transcript variant 2, mRNA.	511	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)		TCCTTGACTTCTTAAAACAGT	0.622000														52			9		0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067187	18067187	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:18067187C>T	uc003stz.3	-	0	300	c.219G>A	c.(217-219)atG>atA	p.M73I		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	73					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGGCATTAATCATGATCAAAA	0.488000														159			106		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10558352	10558352	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:10558352G>A	uc002gmq.2	-	2	118	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	10	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CAGCTATGCCGAACACTTCCA	0.562000														56			40		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907865	12907865	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:12907865C>T	uc010obf.2	-	1	504	c.278G>A	c.(277-279)gGa>gAa	p.G93E	LOC649330_uc009vno.2_Missense_Mutation_p.G93E	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	93							nucleic acid binding|nucleotide binding										ACCTGCGTTTCCTCGGTTCAC	0.483000														89			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179473425	179473425	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:179473425C>T	uc021vsy.1	-	222	44834	c.44609G>A	c.(44608-44610)gGa>gAa	p.G14870E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G8565E|TTN_uc021vta.1_Missense_Mutation_p.G8498E|TTN_uc021vtb.1_Missense_Mutation_p.G8373E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15797	Fibronectin type-III 7.						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)			GTACTCTTTTCCTTCAATCAG	0.393000														22			8		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509537	117509537	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:117509537C>T	uc001egv.1	+	5	1781	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	548	Ig-like C2-type 5.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding	p.S548S(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTCCAGATTCCGTGCTTGTGG	0.383000														19			9		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572435	140572435	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140572435C>T	uc003lix.3	+	0	484	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	104	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTGTATGCTGTATTTCCA	0.443000														22			14		0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76826128	76826128	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:76826128T>C	uc003ugb.3	-	1	828	c.788A>G	c.(787-789)aAc>aGc	p.N263S	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	263	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCTGGTGAAGTTGGTGCTCCC	0.483000														66			40		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61022398	61022398	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:61022398C>T	uc010qif.1	-	9	1164	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K	FAM13C_uc010qid.2_Silent_p.K261K|FAM13C_uc001jkn.3_Silent_p.K344K|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Silent_p.K261K|FAM13C_uc001jkp.3_Silent_p.K261K	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	344										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAGCTTTAGCTTTAGTTCTA	0.448000														42			8		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30973992	30973992	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:30973992G>A	uc021vfn.1	-	9	1245	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	CAPN13_uc021vfm.1_Missense_Mutation_p.P405S|CAPN13_uc002rnp.1_Missense_Mutation_p.P405S	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	405					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.P405S(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AAATCGAGTGGAAATTTTGCA	0.463000														17			4		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182360118	182360118	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:182360118C>T	uc002unu.3	+	12	2123	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	454					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGGTGCTTTTCGGTCTGATTC	0.333000														73			12		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123921207	123921207	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:123921207C>T	uc004bkx.1	+	28	4870	c.4839C>T	c.(4837-4839)ctC>ctT	p.L1613L	CNTRL_uc010mvo.1_Silent_p.L282L|CNTRL_uc004blb.1_Silent_p.L282L|CNTRL_uc010mvp.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1613					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGCATCTACTCCAAGGAAGCA	0.473000														96			19		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142132	29142132	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:29142132G>A	uc011dlm.2	+	0	822	c.720G>A	c.(718-720)agG>agA	p.R240R		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						AAGTGTTTAGGACATGTGGAG	0.458000														100			49		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300279	18300279	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:18300279G>A	uc002zng.4	-	25	5501	c.5148C>T	c.(5146-5148)ggC>ggT	p.G1716G	MICAL3_uc011agl.2_Silent_p.G1632G|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1716						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCCGGCCCTCGCCTTTGGACT	0.587000														7			19		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23219430	23219430	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:23219430C>T	uc009vqj.1	+	6	1627	c.1482C>T	c.(1480-1482)acC>acT	p.T494T	EPHB2_uc001bge.3_Silent_p.T494T|EPHB2_uc001bgf.3_Silent_p.T494T|EPHB2_uc010odu.2_Silent_p.T494T	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	494	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACACGGTCACCGTGCAGGGCC	0.572000														35			34		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545814	82545814	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:82545814C>T	uc003uhx.2	-	6	11777	c.11488G>A	c.(11488-11490)Gat>Aat	p.D3830N	PCLO_uc003uhv.2_Missense_Mutation_p.D3830N|PCLO_uc010lec.3_Missense_Mutation_p.D795N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3761	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAATCACGATCCTCAGCTACT	0.473000														69			19		0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50594748	50594748	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:50594748C>T	uc010qgq.2	-	3	406	c.406G>A	c.(406-408)Gag>Aag	p.E136K	DRGX_uc021pqd.1_Missense_Mutation_p.E131K	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	136					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						TCCAGCGCCTCCTTCTTACTC	0.642000														29			14		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73046806	73046806	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:73046806C>T	uc001sxa.3	+	16	2749	c.2719C>T	c.(2719-2721)Ctg>Ttg	p.L907L		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	907					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCTTCTAAATCTGTCACTGAA	0.333000														21			13		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43523042	43523042	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:43523042C>T	uc002ovm.1	-	2	696	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.E75K|PSG11_uc002ovo.1_Missense_Mutation_p.E75K	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	197	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CTGTTGGTTTCAGACAGCTGC	0.498000														60			149		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88249246	88249246	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:88249246C>T	uc003ydy.2	+	5	725	c.677C>T	c.(676-678)tCg>tTg	p.S226L		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	226										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCACCAGACTCGTTCATATCT	0.383000														63			34		0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50329915	50329915	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:50329915C>T	uc003czb.3	-	2	343	c.343G>A	c.(343-345)Gat>Aat	p.D115N	IFRD2_uc011bdp.2_5'UTR	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	0							binding	p.D115A(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGGCCCACATCCACGAGGCTA	0.667000														23			9		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328650	48328650	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:48328650G>A	uc010rhu.2	+	0	876	c.876G>A	c.(874-876)gtG>gtA	p.V292V		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ACAACGATGTGAAAAATGCCA	0.453000														50			31		0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1553923	1553923	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:1553923G>A	uc004cpx.2	-	4	529	c.392C>T	c.(391-393)tCc>tTc	p.S131F	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.S115F|ASMTL_uc011mhe.2_Missense_Mutation_p.S55F|ASMTL_uc011mhf.2_Missense_Mutation_p.S73F	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	131	MAF-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)				ACCTTTGCTGGAGCAGTGGAC	0.612000														45			14		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45774555	45774555	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr21:45774555C>T	uc010gpt.1	+	1	290	c.190C>T	c.(190-192)Cct>Tct	p.P64S	TRPM2_uc002zet.1_Missense_Mutation_p.P64S|TRPM2_uc002zeu.1_Missense_Mutation_p.P64S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.P64S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	64						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TTCGTGGATTCCTGAAAACAT	0.453000														57			24		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580054	82580054	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:82580054C>T	uc003uhx.2	-	5	10139	c.9850G>A	c.(9850-9852)Gag>Aag	p.E3284K	PCLO_uc003uhv.2_Missense_Mutation_p.E3284K|PCLO_uc010lec.3_Missense_Mutation_p.E249K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3215					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.Q3283H(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTAACGTCTCCTGCCTCATC	0.493000														79			48		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97137642	97137642	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:97137642G>A	uc021rcc.1	+	20	2864	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	929										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						TCAAAAACAGGAAAATTAAAT	0.398000														28			23		0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13636087	13636087	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:13636087G>A	uc004cvj.3	+	7	1304	c.1017G>A	c.(1015-1017)atG>atA	p.M339I	EGFL6_uc004cvi.3_Missense_Mutation_p.M339I|EGFL6_uc011mik.1_Missense_Mutation_p.M240I	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	339					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAGAGAAAATGAAAGAGGGGC	0.448000														8			26		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94708237	94708237	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:94708237C>T	uc001ycs.1	+	9	1243	c.1089C>T	c.(1087-1089)atC>atT	p.I363I		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	363						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CACCCCAAATCCTAGAGCAGG	0.318000														18			13		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72281237	72281237	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:72281237G>A	uc002jkf.3	+	2	352	c.242G>A	c.(241-243)tGg>tAg	p.W81*	DNAI2_uc002jkg.3_Nonsense_Mutation_p.W81*|DNAI2_uc010dfp.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	81					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAGGGGGGCTGGCCCAAGGAC	0.572000									Kartagener syndrome					41			49		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128229	152128229	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:152128229G>A	uc001ezs.1	-	2	1411	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	449	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAGTGGGAATTCTGGCC	0.537000														436			294		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89921011	89921011	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:89921011C>T	uc003kju.3	+	5	719	c.623C>T	c.(622-624)cCc>cTc	p.P208L	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	208	Calx-beta 2.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCACCTTTCCCCCTGGCAGA	0.433000														24			9		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52221309	52221309	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:52221309G>A	uc003jou.3	+	18	3019	c.2605G>A	c.(2605-2607)Gga>Aga	p.G869R	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.G400R	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	869					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGTTTTTTCAGGAATTGAGGT	0.338000														26			17		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032768	30032768	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:30032768G>A	uc021qfi.1	-	0	1458	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	KCNA4_uc001msk.3_Silent_p.F486F	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	486						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGACCCCAATGAAGAGGAAGA	0.527000														77			26		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409049	105409049	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:105409049C>A	uc010axc.1	-	6	12859	c.12739G>T	c.(12739-12741)Ggc>Tgc	p.G4247C	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.G4147C	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4247						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTTGGGGCCTTTCAGGTCC	0.647000														140			37		3.33393e-15	3.37115e-15	1	1	0
UNC5A	90249	broad.mit.edu	37	5	176305269	176305269	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:176305269C>T	uc003mey.3	+	11	2086	c.1894C>T	c.(1894-1896)Ctg>Ttg	p.L632L		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	632					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGAAGCAGCTGGGGGGACA	0.647000														22			17		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45717915	45717915	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:45717915G>A	uc002xsm.3	+	7	1073	c.699G>A	c.(697-699)gcG>gcA	p.A233A	EYA2_uc010ghp.3_Silent_p.A233A|EYA2_uc002xsq.3_Silent_p.A233A	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	233					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCACACCAGCGAAAGAGGGAG	0.582000														56			25		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130536382	130536382	+	Silent	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:130536382A>G	uc003qbw.3	-	2	365	c.37T>C	c.(37-39)Ttg>Ctg	p.L13L	SAMD3_uc003qbx.3_Silent_p.L13L|SAMD3_uc010kfg.1_Silent_p.L13L|SAMD3_uc003qby.3_Silent_p.L13L|SAMD3_uc003qbz.1_5'UTR	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	13	SAM.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTCTCCACCAACCAACTGCAG	0.408000														9			11		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45133364	45133364	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr20:45133364G>A	uc002xsa.3	-	1	515	c.53C>T	c.(52-54)cCa>cTa	p.P18L	ZNF334_uc002xsb.3_5'UTR|ZNF334_uc002xsd.3_5'UTR|ZNF334_uc002xsc.3_Nonsense_Mutation_p.Q13*|ZNF334_uc010ghl.3_Nonsense_Mutation_p.Q12*			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GTCAGGTCCTGGAATGAAACT	0.433000														48			23		0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122353901	122353901	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:122353901G>A	uc003efm.2	+	10	1673	c.1607G>A	c.(1606-1608)aGc>aAc	p.S536N	PARP15_uc003efn.2_Missense_Mutation_p.S341N|PARP15_uc003efo.1_Missense_Mutation_p.S283N|PARP15_uc003efp.1_Missense_Mutation_p.S302N|PARP15_uc011bjt.1_Missense_Mutation_p.S233N	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	514	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.S536T(1)|p.S302T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CTCTGGCAGAGCTACCAGGTA	0.408000														38			25		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	758448	758448	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:758448G>A	uc002lpo.3	+	1	1585	c.1502G>A	c.(1501-1503)tGg>tAg	p.W501*		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	501										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGTGCGGTGGGAGTACTTC	0.657000														25			32		0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109523518	109523519	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:109523518_109523519GG>AA	uc010sxi.2	+	12	1440_1441	c.1336_1337GG>AA	c.(1336-1338)gga>AAa	p.G446K	USP30_uc001tnu.4_Missense_Mutation_p.G415K|USP30_uc001tnw.4_Missense_Mutation_p.G163K	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	446					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CGTCCACCATGGAGACATGCAC	0.495000														64			19		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798531	38798531	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:38798531G>A	uc003ciq.3	-	7	1070	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	357					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCGTTCCCAGGAATCCTGTGT	0.527000														34			9		0	0	1	0	0
RBMY2EP	159125	broad.mit.edu	37	Y	23562899	23562899	+	RNA	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrY:23562899C>T	uc004fun.1	-	1		c.100G>A								Homo sapiens RNA binding motif protein, Y-linked, family 2, member E pseudogene (RBMY2EP), non-coding RNA.																		TGGTTCGATCCTTTATCAAAA	0.338000														7			9		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166167016	166167016	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:166167016C>T	uc002udc.3	+	6	1171	c.881C>T	c.(880-882)tCc>tTc	p.S294F	SCN2A_uc002udd.3_Missense_Mutation_p.S294F|SCN2A_uc002ude.3_Missense_Mutation_p.S294F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	294					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)	AATATCACTTCCTTCTTTAAC	0.348000														31			31		0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121658272	121658272	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:121658272C>T	uc001leu.2	+	1	707	c.497C>T	c.(496-498)tCa>tTa	p.S166L	SEC23IP_uc010qtc.2_Intron	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	166	Interaction with SEC23A.|Pro-rich.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CTCCCTCCTTCATATTTTGGG	0.493000														54			20		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29453458	29453458	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr18:29453458G>A	uc002kxc.4	-	13	2361	c.1997C>T	c.(1996-1998)cCt>cTt	p.P666L	TRAPPC8_uc002kxb.4_Missense_Mutation_p.P612L|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	666					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATACGGTAAAGGAAGCTGTGG	0.363000														25			5		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50515328	50515328	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:50515328C>T	uc001zxw.3	+	4	1371	c.1139C>T	c.(1138-1140)gCt>gTt	p.A380V	SLC27A2_uc010bes.3_Missense_Mutation_p.A327V|SLC27A2_uc001zxx.3_Missense_Mutation_p.A145V	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	380					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AAAGTTGGTGCTGTTGGAAGA	0.373000														44			19		0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101589156	101589156	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:101589156G>A	uc004ayz.3	+	2	664	c.664G>A	c.(664-666)Gat>Aat	p.D222N		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	222	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GGCGAGGGGCGATGTTCTGAC	0.657000														7			4		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66396403	66396404	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:66396403_66396404CC>TT	uc021xzk.1	+	7	1361_1362	c.1053_1054CC>TT	c.(1051-1056)ccccgt>ccTTgt	p.R352C	MAST4_uc003jus.3_Missense_Mutation_p.R163C|MAST4_uc003jut.2_Missense_Mutation_p.R163C|MAST4_uc003juu.1_Missense_Mutation_p.R173C|MAST4_uc011cra.1_Missense_Mutation_p.R146C|MAST4_uc010ixa.2_Non-coding_Transcript|MAST4_uc003juv.2_Missense_Mutation_p.R158C|MAST4_uc003juw.3_Missense_Mutation_p.R158C	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	355						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGATGCGCCCCCGTTCCCGAAG	0.475000														91			18		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140569145	140569145	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140569145G>A	uc003liw.1	+	1	2251	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K	PCDHB10_uc003lix.3_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	752					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAGTACGAGGTGTGTCT	0.622000														151			95		0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99148129	99148129	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:99148129C>T	uc001knf.3	-	7	1036	c.897G>A	c.(895-897)aaG>aaA	p.K299K	RRP12_uc009xvm.3_Intron|RRP12_uc010qou.2_Silent_p.K238K|RRP12_uc009xvn.3_Silent_p.K199K	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	299						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGGTGGCCTCCTTGGAGCCTG	0.637000														45			11		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767009	77767009	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:77767009G>A	uc003yau.2	+	9	8239	c.7852G>A	c.(7852-7854)Gaa>Aaa	p.E2618K	ZFHX4_uc003yaw.1_Missense_Mutation_p.E2573K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2573						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAACAGCTGGAAATACTCTA	0.433000										HNSCC(33;0.089)				20			19		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729272	41729272	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:41729272G>A	uc003thq.3	-	1	1492	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	INHBA_uc003thr.3_Silent_p.I419I	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	419					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.I419I(2)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACTCCTCCACGATCATGTTCT	0.468000										TSP Lung(11;0.080)				72			18		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688979	26688980	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:26688979_26688980GG>AA	uc003acb.3	+	1	898_899	c.702_703GG>AA	c.(700-705)caggag>caAAag	p.E235K	SEZ6L_uc003acd.3_Missense_Mutation_p.E235K|SEZ6L_uc011akd.2_Missense_Mutation_p.E235K|SEZ6L_uc003ace.3_Missense_Mutation_p.E235K|SEZ6L_uc011akc.2_Missense_Mutation_p.E235K|SEZ6L_uc003acc.3_Missense_Mutation_p.E235K|SEZ6L_uc003acf.1_Missense_Mutation_p.E8K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E8K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	235						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGGCCCCCCAGGAGGACACCAG	0.624000														13			8		0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989917	125989917	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:125989917A>T	uc003yrr.3	+	2	1562	c.1407A>T	c.(1405-1407)aaA>aaT	p.K469N		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AACCTTACAAATGTACCAGCT	0.458000										HNSCC(60;0.17)				116			50		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216873	21216873	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:21216873C>T	uc003zor.1	-	0	438	c.432G>A	c.(430-432)agG>agA	p.R144R	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	144					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GAAAGTATTTCCTCACAGCCA	0.458000														81			108		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117852935	117852935	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:117852935C>T	uc004bjj.4	-	1	775	c.363G>A	c.(361-363)gaG>gaA	p.E121E	TNC_uc010mvf.3_Silent_p.E121E|TNC_uc022bmj.1_Silent_p.E121E	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	121					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGCTCAGCAGCTCCTTAACAT	0.587000														229			60		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347637	140347637	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140347637G>A	uc003lii.3	+	0	1891	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.R429Q	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R429R(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTGGACCGAGAGCGGGTG	0.572000														97			56		0	0	1	0	0
DKKL1	27120	broad.mit.edu	37	19	49878086	49878087	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:49878086_49878087GG>AA	uc002pnk.3	+	4	744_745	c.530_531GG>AA	c.(529-531)cgg>cAA	p.R177Q	DKKL1_uc021uxk.1_Missense_Mutation_p.R102Q|DKKL1_uc021uxl.1_Missense_Mutation_p.R146Q	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN	Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.	177					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTGCCACGGCGGAGGTCCCACC	0.653000														20			6		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108264174	108264174	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:108264174C>T	uc003ymn.3	-	8	1874	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	ANGPT1_uc011lhv.2_Missense_Mutation_p.G269E|ANGPT1_uc003ymo.3_Missense_Mutation_p.G468E	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	469	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			ATTCAGTTTTCCATGGTTTTG	0.398000														98			50		0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154702801	154702801	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:154702801C>T	uc003inv.1	-	2	931	c.690G>A	c.(688-690)agG>agA	p.R230R		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	230	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCTTCAGGTCCCTTTCGGACA	0.478000														76			16		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853460	143853460	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:143853460C>T	uc003lnm.1	+	3	1699	c.1070C>T	c.(1069-1071)tCa>tTa	p.S357L	KCTD16_uc003lnn.1_Missense_Mutation_p.S357L	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	357						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATCCAACAGTCAGAGATGCGG	0.537000														79			28		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535510	110535510	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:110535510C>T	uc003yne.3	+	75	12483	c.12379C>T	c.(12379-12381)Ctc>Ttc	p.L4127F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	4127					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAGGGCCATACTCAAGGACTC	0.383000										HNSCC(38;0.096)				44			27		0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28483437	28483437	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:28483437C>T	uc021yrx.1	-	0	134	c.84G>A	c.(82-84)agG>agA	p.R28R	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	28					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TGCTCACCTTCCTATTTTGAG	0.532000														42			16		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954383	33954383	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:33954383A>T	uc001zhi.3	+	34	4722	c.4652A>T	c.(4651-4653)cAg>cTg	p.Q1551L	RYR3_uc010bar.3_Missense_Mutation_p.Q1551L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1551	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCTGTGAGCAGGAGGACCTG	0.602000														14			3		0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56848075	56848075	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:56848075G>A	uc001slh.3	-	0	361	c.323C>T	c.(322-324)aCc>aTc	p.T108I		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	108					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						AGCAGGTGGGGTAACGCTATA	0.597000														34			22		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815318	23815318	+	Silent	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:23815318A>G	uc003gqs.3	-	7	1908	c.1788T>C	c.(1786-1788)tcT>tcC	p.S596S	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	596	Arg/Ser-rich.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTTACCTTGAAGAGGATCTAC	0.393000														17			22		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129040031	129040031	+	Missense_Mutation	SNP	G	T	T	rs147880101		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:129040031G>T	uc003kvb.1	+	20	3241	c.3241G>T	c.(3241-3243)Gac>Tac	p.D1081Y	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1081	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGAGGCTGAAGACTGTGAGGA	0.448000														74			41		1.96642e-18	1.99342e-18	1	1	0
GRK5	2869	broad.mit.edu	37	10	121140380	121140380	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:121140380C>T	uc001led.3	+	2	435	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	GRK5_uc009xzh.3_5'UTR|GRK5_uc010qta.1_5'UTR	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	68	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	p.R68W(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCTGCTTTTCCGGCAGTTTTG	0.517000														66			39		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451538	138451538	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:138451538C>T	uc003ihe.4	-	0	2092	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	PCDH18_uc003ihf.4_Missense_Mutation_p.E562K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.E349K|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	569	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGTCATTTTCGTCAATGATG	0.458000														93			54		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896978	227896979	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:227896978_227896979CC>TT	uc021vxr.1	-	37	3692_3693	c.3591_3592GG>AA	c.(3589-3594)gtgggg>gtAAgg	p.G1198R	COL4A4_uc021vxs.1_Missense_Mutation_p.G1198R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1198	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCAGGTGGCCCCACATCATGCA	0.495000														19			18		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4738879	4738879	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:4738879G>A	uc003bqc.3	+	32	4635	c.4285G>A	c.(4285-4287)Gag>Aag	p.E1429K	ITPR1_uc021wsi.1_Missense_Mutation_p.E1435K|ITPR1_uc021wsj.1_Missense_Mutation_p.E1420K|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1444					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGTGGATACAGAGGTGGAAAT	0.388000														11			6		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55932118	55932118	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:55932118C>T	uc003pcs.3	-	22	2334	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	COL21A1_uc010jzz.3_Missense_Mutation_p.G86E|COL21A1_uc011dxg.2_Intron|COL21A1_uc011dxh.2_Missense_Mutation_p.G86E|COL21A1_uc003pcr.3_Missense_Mutation_p.E59K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	701	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCTTGATTTCCTTTGTCCCC	0.299000														31			16		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962420	73962420	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:73962420C>T	uc004eby.3	-	2	2589	c.1972G>A	c.(1972-1974)Gat>Aat	p.D658N		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	658					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGCCTCTGATCATTACATAAT	0.413000														2			10		0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20130526	20130526	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:20130526C>T	uc002zrr.2	+	9	1480	c.1373C>T	c.(1372-1374)cCc>cTc	p.P458L	ZDHHC8_uc002zrq.3_Missense_Mutation_p.P458L|ZDHHC8_uc010gsa.3_Missense_Mutation_p.P264L	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	458						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGGGGGCCCCCCACGCCCCAC	0.697000														19			24		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101381371	101381371	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:101381371G>C	uc010svm.1	+	7	1229	c.657G>C	c.(655-657)agG>agC	p.R219S	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.R184S|ANO4_uc001thx.2_Missense_Mutation_p.R219S	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	219						chloride channel complex	chloride channel activity	p.T218T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGCCAATGAGGCTGGACAAGG	0.493000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		119			102		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115537408	115537408	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:115537408G>A	uc001efr.3	+	31	3002	c.2793_splice	c.e31+1	p.K931_splice	SYCP1_uc010owt.2_Splice_Site|SYCP1_uc001efq.3_Splice_Site_p.K931_splice|SYCP1_uc009wgw.3_Splice_Site_p.K906_splice	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	931					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCAAAAAAGGTAGCTTTTA	0.299000														14			7		0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41958620	41958620	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:41958620G>A	uc010win.1	-	6	1097	c.494C>T	c.(493-495)cCa>cTa	p.P165L	MPP2_uc002ien.1_Missense_Mutation_p.P321L|MPP2_uc010wim.1_Missense_Mutation_p.P293L|MPP2_uc002ieo.1_Missense_Mutation_p.P304L|MPP2_uc010wio.1_Missense_Mutation_p.P293L|MPP2_uc010wip.1_Missense_Mutation_p.P349L			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	328					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		ACCTGAGTTTGGTGTCAGCTC	0.602000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			25		0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114251824	114251824	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:114251824G>A	uc004epx.3	-	1	134	c.9C>T	c.(7-9)ttC>ttT	p.F3F	IL13RA2_uc010nqd.1_Silent_p.F3F|IL13RA2_uc022cdb.1_Silent_p.F3F	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	3						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	p.F3F(2)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						CCAAGCAAACGAAAGCCATTT	0.328000														13			27		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86257385	86257385	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:86257385C>T	uc002sqs.3	-	30	5092	c.4713G>A	c.(4711-4713)aaG>aaA	p.K1571K	POLR1A_uc010ytb.2_Silent_p.K937K	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1571					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTTCTCGTTCTTATTGTTGG	0.502000														66			39		0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220363796	220363796	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:220363796C>T	uc010puk.1	-	14	1718	c.1554G>A	c.(1552-1554)caG>caA	p.Q518Q	RAB3GAP2_uc021pjf.1_Silent_p.Q518Q|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Silent_p.Q98Q	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	518					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTGATAAGTCTGTGGCTGCC	0.408000														58			30		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104167	53104167	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:53104167G>A	uc003tpz.3	+	0	819	c.803G>A	c.(802-804)tGg>tAg	p.W268*		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	268								p.F267F(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGGACTTCTGGGAGGCGACA	0.637000														48			14		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22867488	22867488	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:22867488T>C	uc001yuq.2	+	18	2694	c.2564T>C	c.(2563-2565)cTt>cCt	p.L855P	TUBGCP5_uc001yur.4_Missense_Mutation_p.L855P	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	855					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AAACCACGACTTAAAGAAGGC	0.433000														37			23		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936406	4936406	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:4936406G>A	uc001lzr.1	-	0	488	c.488C>T	c.(487-489)cCa>cTa	p.P163L		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P163fs*27(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAAGGTAATGGAAAAATGAG	0.473000														20			38		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49448473	49448473	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:49448473C>T	uc001jgi.3	-	5	961	c.630G>A	c.(628-630)agG>agA	p.R210R	FRMPD2_uc001jgh.3_Silent_p.R179R|FRMPD2_uc001jgj.3_Silent_p.R179R	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	210					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCAGCCTCTTCCTGAGCAGGT	0.587000														14			13		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928434	137928434	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:137928434G>A	uc002tva.1	+	5	1556	c.1556G>A	c.(1555-1557)gGg>gAg	p.G519E	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G409E	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCATCAGAAGGGATCTGTTTC	0.537000														32			22		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135649738	135649738	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:135649738G>A	uc003yup.3	-	2	600	c.414C>T	c.(412-414)atC>atT	p.I138I	ZFAT_uc003yun.3_Silent_p.I126I|ZFAT_uc003yuo.3_Silent_p.I126I|ZFAT_uc010meh.3_Silent_p.I126I|ZFAT_uc010mej.3_Silent_p.I138I|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.I126I|ZFAT_uc003yur.3_Silent_p.I126I	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AATTCAGCACGATAATGCAGA	0.507000														77			48		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728360	50728360	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr22:50728360G>A	uc003bkv.4	-	2	747	c.654C>T	c.(652-654)ttC>ttT	p.F218F		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	218	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGCCGCCACGAACTGCTGTG	0.632000														17			16		0	0	1	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37163158	37163158	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:37163158A>T	uc003cgp.2	-	5	676	c.253T>A	c.(253-255)Tcc>Acc	p.S85T	LRRFIP2_uc011ayf.1_Missense_Mutation_p.S68T|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	85	DVL3-binding.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GACCGGTGGGAATACCTGGCC	0.413000														66			33		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805802	54805802	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:54805802G>A	uc003pck.3	+	4	2149	c.2033G>A	c.(2032-2034)gGa>gAa	p.G678E		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	678										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTAGATCCTGGAAATAGTAAG	0.358000														52			38		0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437122	44437122	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:44437122C>T	uc001ckz.3	+	3	743	c.548C>T	c.(547-549)cCc>cTc	p.P183L	DPH2_uc001cla.3_Intron|DPH2_uc010okk.2_Missense_Mutation_p.P48L|DPH2_uc001clb.3_Missense_Mutation_p.P107L	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.	183					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCAGCTTTTCCCCAACCAGTG	0.607000														38			27		0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	34005933	34005933	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:34005933G>A	uc003jij.3	-	1	415	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	AMACR_uc003jig.3_Silent_p.L107L|AMACR_uc003jih.3_Silent_p.L107L|AMACR_uc003jik.2_Silent_p.L107L|AMACR_uc003jil.2_Silent_p.L107L	NM_001167595	NP_001161067	Q9UHK6	AMACR_HUMAN	Homo sapiens alpha-methylacyl-CoA racemase (AMACR), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	107			L -> P (in CBAS4; inactive enzyme).		bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AATCCACTCAGCCTGGCATAA	0.448000														62			29		0	0	1	0	0
WDR46	9277	broad.mit.edu	37	6	33247113	33247113	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:33247113C>T	uc003ods.3	-	14	2130	c.1773G>A	c.(1771-1773)aaG>aaA	p.K591K	WDR46_uc011dra.2_Silent_p.K537K	NM_005452	NP_005443	O15213	WDR46_HUMAN	Homo sapiens WD repeat domain 46 (WDR46), transcript variant 1, mRNA.	591										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CCTTCGCCTCCTTATGATGCT	0.637000														159			46		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34102840	34102840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:34102840G>A	uc001zhi.3	+	70	10257	c.10187G>A	c.(10186-10188)cGa>cAa	p.R3396Q	RYR3_uc010bar.3_Missense_Mutation_p.R3391Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3396					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAAAATCGCGATACAGCCAT	0.547000														28			19		0	0	1	0	0
BCL7A	605	broad.mit.edu	37	12	122481813	122481813	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:122481813C>T	uc001ubo.3	+	3	430	c.293C>T	c.(292-294)tCc>tTc	p.S98F	BCL7A_uc001ubp.3_Missense_Mutation_p.S98F	NM_020993	NP_066273	Q4VC05	BCL7A_HUMAN	Homo sapiens B-cell CLL/lymphoma 7A (BCL7A), transcript variant 1, mRNA.	98					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AACCAGAGCTCCATCGCAGAT	0.612000			T	MYC	BNHL									71			48		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71653716	71653716	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:71653716C>T	uc002shx.3	+	23	5040	c.4717C>T	c.(4717-4719)Cct>Tct	p.P1573S	ZNF638_uc002shz.3_Missense_Mutation_p.P1573S|ZNF638_uc002shy.3_Missense_Mutation_p.P1573S|ZNF638_uc002sia.3_Missense_Mutation_p.P1573S|ZNF638_uc002sib.1_3'UTR|ZNF638_uc002sic.3_Missense_Mutation_p.P670S|ZNF638_uc002sid.3_5'UTR	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1573					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAAAAATGTTCCTTTCTCTGA	0.393000														31			19		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209963962	209963962	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:209963962G>A	uc001hhq.2	-	6	1242	c.938C>T	c.(937-939)gCc>gTc	p.A313V	IRF6_uc010psm.2_Missense_Mutation_p.A218V	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	313					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CAGCCTGATGGCATAAATGGC	0.507000										HNSCC(57;0.16)				31			22		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810812	31810812	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:31810812G>A	uc001ivs.4	+	6	2612	c.2549G>A	c.(2548-2550)aGc>aAc	p.S850N	ZEB1_uc001ivr.4_Missense_Mutation_p.S632N|ZEB1_uc010qef.2_Missense_Mutation_p.S632N|ZEB1_uc009xlj.1_Missense_Mutation_p.S776N|ZEB1_uc010qeg.1_Missense_Mutation_p.S709N|ZEB1_uc009xlk.1_Missense_Mutation_p.S632N|ZEB1_uc001ivu.4_Missense_Mutation_p.S851N|ZEB1_uc010qeh.2_Missense_Mutation_p.S783N|ZEB1_uc001ivv.4_Missense_Mutation_p.S830N|ZEB1_uc001ivt.4_Missense_Mutation_p.S632N|ZEB1_uc009xlo.2_Missense_Mutation_p.S833N|ZEB1_uc009xlp.3_Missense_Mutation_p.S834N	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	850					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACTACGGTCAGCCCTGCAGTC	0.458000														23			24		0	0	1	0	0
GMCL1P1	64396	broad.mit.edu	37	5	177612731	177612731	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:177612731G>A	uc003mit.1	-	0	1703	c.1570C>T	c.(1570-1572)Cca>Tca	p.P524S						Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA.																		CAGTTTTCTGGATTTTCTGGG	0.368000														24			6		0	0	1	0	0
MEF2A	4205	broad.mit.edu	37	15	100214787	100214787	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:100214787C>T	uc010urw.2	+	4	945	c.586C>T	c.(586-588)Cct>Tct	p.P196S	MEF2A_uc002bve.3_Missense_Mutation_p.P194S|MEF2A_uc002bvg.3_Missense_Mutation_p.P194S|MEF2A_uc010urv.2_Missense_Mutation_p.P126S|MEF2A_uc010bos.3_Missense_Mutation_p.P194S|MEF2A_uc002bvf.3_Missense_Mutation_p.P196S|MEF2A_uc002bvi.3_Missense_Mutation_p.P194S|MEF2A_uc010bot.3_Missense_Mutation_p.P126S	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	196					BMK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	RNA polymerase II regulatory region sequence-specific DNA binding|SMAD binding|activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.P196S(3)|p.P194S(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TCCTGGAGCTCCTCAGAGACC	0.433000														117			50		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41009403	41009403	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:41009403G>A	uc003jmj.4	-	31	3889	c.3399C>T	c.(3397-3399)atC>atT	p.I1133I	HEATR7B2_uc003jmi.4_Silent_p.I688I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1133							binding	p.I1133M(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CAACCCTGGCGATGTCATCTT	0.507000														86			32		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994955	11994955	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:11994955A>G	uc003wvc.1	-	0	1315	c.1315T>C	c.(1315-1317)Ttc>Ctc	p.F439L	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	439					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCTTGGGGGAATTTCCAGTGG	0.512000														122			19		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004380	248004380	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:248004380G>A	uc001idn.1	-	0	819	c.819C>T	c.(817-819)atC>atT	p.I273I		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K272N(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGACAGAAATGATCTTGTTGA	0.473000														49			16		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113554926	113554926	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:113554926T>G	uc001tun.2	-	8	984	c.683A>C	c.(682-684)aAa>aCa	p.K228T	RASAL1_uc010syp.2_Missense_Mutation_p.K228T|RASAL1_uc001tul.3_Missense_Mutation_p.K228T|RASAL1_uc001tum.2_Missense_Mutation_p.K228T|RASAL1_uc010syq.2_Missense_Mutation_p.K228T|RASAL1_uc001tuo.4_Missense_Mutation_p.K228T|RASAL1_uc010syr.2_Missense_Mutation_p.K228T	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	228					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GAACCAGCCTTTAGGTGGCTT	0.637000														27			17		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906724	164906724	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:164906724A>G	uc003fej.4	-	1	2339	c.1895T>C	c.(1894-1896)cTt>cCt	p.L632P	SLITRK3_uc003fek.3_Missense_Mutation_p.L632P|SLITRK3_uc021xgy.1_Missense_Mutation_p.L632P	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	632						integral to membrane		p.H631Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGCCCCAATAAGGTGAGAATC	0.532000										HNSCC(40;0.11)				24			5		0	0	1	0	0
TNIP2	79155	broad.mit.edu	37	4	2744022	2744022	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:2744022C>A	uc003gfg.2	-	5	1339	c.1252G>T	c.(1252-1254)Gaa>Taa	p.E418*	TNIP2_uc003gff.2_Nonsense_Mutation_p.E311*	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	418						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGAGCTCTTCCCCTTGCTCG	0.677000														13			6		1	1	1	1	0
C14orf169	79697	broad.mit.edu	37	14	73958627	73958627	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:73958627G>A	uc001xok.1	+	1	982	c.903G>A	c.(901-903)caG>caA	p.Q301Q	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	Homo sapiens chromosome 14 open reading frame 169 (C14orf169), mRNA.	302	JmjC.				negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen								BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		TCTGTCCGCAGGCTTTCTCTA	0.642000														10			8		0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117066916	117066916	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:117066916G>A	uc003vjb.2	-	1	242	c.179C>T	c.(178-180)tCa>tTa	p.S60L	ASZ1_uc011kno.1_Missense_Mutation_p.S60L|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	60					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTGGACCAATGAAACATCTCC	0.333000														113			37		0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609902	32609902	+	Missense_Mutation	SNP	G	A	A	rs41544114		TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:32609902G>A	uc003obr.3	+	2	538	c.485G>A	c.(484-486)aGc>aAc	p.S162N	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Missense_Mutation_p.S162N|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	161	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TCTGAGACCAGCTTCCTCTCC	0.488000														24			11		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263580	39263580	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr13:39263580C>T	uc001uwv.3	+	0	2408	c.2099C>T	c.(2098-2100)cCt>cTt	p.P700L		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	700					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATCGCCTCCCTCCGGAGCTG	0.552000														43			29		0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124064325	124064325	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr9:124064325G>A	uc004blf.1	+	1	290	c.229G>A	c.(229-231)Gat>Aat	p.D77N	GSN_uc004bld.1_Missense_Mutation_p.D26N|GSN_uc010mvr.1_Missense_Mutation_p.D37N|GSN_uc010mvq.1_Missense_Mutation_p.D37N|GSN_uc010mvu.1_Missense_Mutation_p.D26N|GSN_uc010mvt.1_Missense_Mutation_p.D26N|GSN_uc010mvs.1_Missense_Mutation_p.D26N|GSN_uc004ble.1_Missense_Mutation_p.D26N|GSN_uc010mvv.1_Missense_Mutation_p.D26N|GSN_uc011lyh.1_Missense_Mutation_p.D43N|GSN_uc011lyi.1_Missense_Mutation_p.D26N|GSN_uc011lyj.1_Missense_Mutation_p.D50N	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	77	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGAGAAGTTCGATCTGGTGCC	0.582000														75			24		0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149080	52149080	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:52149080C>T	uc002pxf.4	-	2	775	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	219	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		ACCTGAGCTCCTTGGCGTTTC	0.652000														22			18		0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77937788	77937788	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:77937788C>T	uc001ozh.3	-	3	1032	c.930G>A	c.(928-930)ctG>ctA	p.L310L	GAB2_uc001ozg.3_Silent_p.L272L	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	310					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TATTGTCTACCAGGAGGTCCC	0.552000														49			32		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108172946	108172946	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:108172946C>T	uc003dxa.1	-	21	2423	c.2366G>A	c.(2365-2367)aGa>aAa	p.R789K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	789	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTCTCATCTCTTATTGCTTC	0.393000														23			22		0	0	1	0	0
HCG27	253018	broad.mit.edu	37	6	31170442	31170442	+	RNA	SNP	G	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:31170442G>T	uc011dni.2	+	1		c.417G>T								Homo sapiens HLA complex group 27 (non-protein coding) (HCG27), non-coding RNA.																		CAGGGTTGAGGTTGGGGGCAT	0.612000														48			19		6.94344e-10	7.00318e-10	1	1	0
MUC16	94025	broad.mit.edu	37	19	9046272	9046272	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9046272G>A	uc002mkp.3	-	4	35563	c.35359C>T	c.(35359-35361)Cct>Tct	p.P11787S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11789	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P7420N(1)|p.P11787N(1)|p.P7420T(1)|p.P11787T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGAAGCAGGAAATGTTTTA	0.473000														36			25		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55263930	55263930	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:55263930G>A	uc002qgx.3	+	7	1022	c.985G>A	c.(985-987)Gat>Aat	p.D329N	KIR3DL2_uc010yfj.2_5'Flank|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	328					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ACCCCCAACAGATATCATCGT	0.512000														224			50		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28865907	28865907	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:28865907C>T	uc002rmb.2	+	57	4401	c.4357C>T	c.(4357-4359)Ctg>Ttg	p.L1453L	PLB1_uc010ezj.2_Silent_p.L1442L|PLB1_uc002rme.2_Silent_p.L418L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1453					lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCCAATGAGCCTGCGCACTGT	0.657000														16			4		0	0	1	0	0
RLN3	117579	broad.mit.edu	37	19	14139030	14139030	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:14139030T>G	uc002mxw.1	+	0	14	c.14T>G	c.(13-15)aTg>aGg	p.M5R	RLN3_uc010dzj.1_Missense_Mutation_p.M5R	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN	Homo sapiens relaxin 3 (RLN3), mRNA.	5						extracellular region	hormone activity			endometrium(1)|lung(4)	5						GCCAGGTACATGCTGCTGCTG	0.642000														40			19		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582005	55582005	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:55582005G>A	uc010qhy.1	-	34	5897	c.5502C>T	c.(5500-5502)tgC>tgT	p.C1834C	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.C1829C|PCDH15_uc021pqz.1_Silent_p.C1804C|PCDH15_uc010qhv.1_Silent_p.C1824C|PCDH15_uc010qhw.1_Silent_p.C1787C|PCDH15_uc010qhx.1_Silent_p.C1758C|PCDH15_uc010qhz.1_Silent_p.C1829C|PCDH15_uc010qia.1_Silent_p.C1807C|PCDH15_uc001jju.1_Silent_p.C1827C|PCDH15_uc010qib.1_Silent_p.C1804C	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1827					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				gaggtggagggcaaggaatag	0.478000										HNSCC(58;0.16)				43			15		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719191	155719191	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:155719191G>A	uc003ioo.3	+	2	553	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	RBM46_uc011cim.1_Missense_Mutation_p.R127Q|RBM46_uc003iop.1_Missense_Mutation_p.R127Q	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	127	RRM 1.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TATGAAATTCGACCAGGGAAG	0.333000														27			19		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730506	37730506	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr8:37730506G>A	uc003xkm.2	-	3	1870	c.1814C>T	c.(1813-1815)cCc>cTc	p.P605L	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	605	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGTGGAAATGGGAGCTGCTAT	0.547000														67			25		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147928256	147928256	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:147928256G>A	uc021yfj.1	-	2	375	c.328C>T	c.(328-330)Cac>Tac	p.H110Y	HTR4_uc021yfg.1_Missense_Mutation_p.H110Y|HTR4_uc021yfh.1_Missense_Mutation_p.H110Y|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.H110Y|HTR4_uc011dby.1_Missense_Mutation_p.H110Y|HTR4_uc003lpn.3_Missense_Mutation_p.H110Y|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.H110Y	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	110					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CAGCACAGGTGAAAAATCGAT	0.493000														5			4		0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	G	G			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr17:39296152A>G	uc010cxk.2	-	0	588	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	192						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597000														2			2		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187005027	187005027	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr4:187005027G>A	uc003iyq.3	+	3	2288	c.2187G>A	c.(2185-2187)agG>agA	p.R729R	TLR3_uc011ckz.2_Silent_p.R452R|TLR3_uc003iyr.3_Silent_p.R452R	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	729					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGGGCTGGAGGATATCTTTTT	0.358000														114			28		0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132688193	132688193	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:132688193G>A	uc001ukc.4	-	6	1236	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	GALNT9_uc009zyr.3_Missense_Mutation_p.R148C|GALNT9_uc001ukb.3_Missense_Mutation_p.R231C|GALNT9_uc001uka.3_Missense_Mutation_p.R8C	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	374	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		TGGGCCACGCGGGAGCAGGGC	0.682000														44			14		0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74032749	74032749	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:74032749G>A	uc010izj.1	-	15	1804	c.1478C>T	c.(1477-1479)gCc>gTc	p.A493V	GFM2_uc003kdh.1_Missense_Mutation_p.A461V|GFM2_uc003kdi.1_Missense_Mutation_p.A414V|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Missense_Mutation_p.A461V	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	461					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CTCCCGTTCGGCTCTACGAGC	0.468000														55			28		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064221	9064221	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:9064221G>A	uc002mkp.3	-	2	23429	c.23225C>T	c.(23224-23226)tCa>tTa	p.S7742L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7744	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						ACTTGAAGATGAACTGGTTCC	0.527000														151			29		0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833032	34833032	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr19:34833032C>T	uc002nvd.4	+	9	3052	c.2193C>T	c.(2191-2193)gtC>gtT	p.V731V		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	731								p.Q730E(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AACCTCAAGTCCAATACTACC	0.642000														107			35		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431406	140431406	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr5:140431406C>T	uc003lik.1	+	0	428	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	117	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGTCCTTCCGGGCCGAGG	0.512000														46			37		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755456	91755456	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:91755456C>T	uc010aty.3	-	24	4588	c.4434G>A	c.(4432-4434)gtG>gtA	p.V1478V		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1478					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)				TACCTTTCCCCACAGACCCGT	0.687000														17			10		0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138376566	138376566	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr3:138376566G>A	uc011bmq.2	-	19	2908	c.2908C>T	c.(2908-2910)Caa>Taa	p.Q970*	PIK3CB_uc011bmn.2_Nonsense_Mutation_p.Q482*|PIK3CB_uc011bmo.2_Nonsense_Mutation_p.Q421*|PIK3CB_uc011bmp.2_Nonsense_Mutation_p.Q557*|PIK3CB_uc003est.1_5'Flank	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	970	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GTTTTTCCTTGTTGAATGACA	0.398000														237			127		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66021917	66021917	+	Silent	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:66021917G>A	uc002api.3	-	9	1651	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	DENND4A_uc002aph.3_Silent_p.S422S|DENND4A_uc002apj.3_Silent_p.S422S|DENND4A_uc010ujj.1_Silent_p.S422S	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	422	DENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATGGCCGTAGGGAATGGATAA	0.388000														7			4		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22851028	22851028	+	Silent	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr15:22851028C>T	uc001yuq.2	+	10	1420	c.1290C>T	c.(1288-1290)gtC>gtT	p.V430V	TUBGCP5_uc001yur.4_Silent_p.V430V|TUBGCP5_uc010axz.1_Missense_Mutation_p.S2L	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	430					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CTCGAAATGTCGTCCGGGCCT	0.483000														65			36		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20421462	20421462	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:20421462G>A	uc003suu.3	+	5	1619	c.914G>A	c.(913-915)gGa>gAa	p.G305E	ITGB8_uc011jyh.2_Missense_Mutation_p.G170E|ITGB8_uc003sut.3_Missense_Mutation_p.G305E	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	305	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						CCCAATGACGGAAACTGTCAT	0.428000														24			20		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58768329	58768329	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr14:58768329G>A	uc001xdp.3	+	2	292	c.38G>A	c.(37-39)gGa>gAa	p.G13E	ARID4A_uc010apf.1_Non-coding_Transcript|ARID4A_uc001xdo.3_Missense_Mutation_p.G13E|ARID4A_uc001xdq.3_Missense_Mutation_p.G13E	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	13					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTGACAGTGGGAACCGATGTC	0.448000														30			23		0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64721993	64721993	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:64721993C>T	uc010nko.3	+	4	1482	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	461							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTAAGTGTTCCCACAATCCCA	0.602000														20			46		0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4068974	4068974	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr6:4068974G>A	uc003mvx.3	-	6	1889	c.1483C>T	c.(1483-1485)Ctt>Ttt	p.L495F	FAM217A_uc010jnq.1_Intron|FAM217A_uc003mvy.3_Missense_Mutation_p.L432F	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	Homo sapiens chromosome 6 open reading frame 146 (C6orf146), mRNA.	495																	TTAGCAATAAGGGAAGGCGAC	0.368000														42			39		0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175622398	175622398	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr2:175622398C>T	uc002ujd.2	-	4	393	c.315G>A	c.(313-315)tgG>tgA	p.W105*	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Nonsense_Mutation_p.W80*|CHRNA1_uc002ujf.4_Nonsense_Mutation_p.W80*	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	105					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TGTAATCCACCCATTGCTAGA	0.378000														34			14		0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44192920	44192920	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr7:44192920C>T	uc003tkl.2	-	1	658	c.188G>A	c.(187-189)cGc>cAc	p.R63H	GCK_uc003tkj.1_Missense_Mutation_p.R62H|GCK_uc003tkk.1_Missense_Mutation_p.R64H	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	63					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TGGGGTGGAGCGCACGTAGGT	0.612000														283			66		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74905192	74905192	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr1:74905192delC	uc001dge.2	+	21	2267	c.2200delC	c.(2200-2202)cctfs	p.P734fs	FPGT-TNNI3K_uc001dgd.3_Frame_Shift_Del_p.P734fs|FPGT-TNNI3K_uc001dgf.2_Frame_Shift_Del_p.P633fs	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	633	Poly-Ser.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TTGGATGGCTCCTGAGGTGTT	0.473													---	33	---	---	27	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	AGA	AGA	rs145490621	by1000genomes	TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr10:22498484_22498485insAGA	uc021pob.1	-	0	428_429	c.428_429insTCT	c.(427-429)ctg>ctTCTg	p.143_143L>LL		NM_001199938	NP_001186867			Homo sapiens endogenous Bornavirus-like nucleoprotein 1 (EBLN1), mRNA.																		CAATGCCTATCAGATCACAGCA	0.455													---	3	---	---	3	---					
ZDHHC13	54503	broad.mit.edu	37	11	19180492	19180493	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr11:19180492_19180493delTG	uc001mpi.3	+	9	1118_1119	c.1013_1014delTG	c.(1012-1014)ttgfs	p.L338fs	ZDHHC13_uc001mpj.3_Frame_Shift_Del_p.L208fs	NM_019028	NP_001001483	Q8IUH4	ZDH13_HUMAN	Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA.	338	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TTTAGGTTCTTGGTTGGGTATA	0.272													---	4	---	---	2	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	-	-			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr12:132281734_132281736delAGA	uc001uja.1	+	15	2686_2688	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_uc010tbn.1_In_Frame_Del_p.K905del	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													---	170	---	---	7	---					
ARHGAP17	55114	broad.mit.edu	37	16	24946954	24946954	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chr16:24946954delG	uc002dnb.3	-	17	1824	c.1731delC	c.(1729-1731)cccfs	p.P577fs	ARHGAP17_uc002dmy.3_Frame_Shift_Del_p.P22fs|ARHGAP17_uc002dmz.3_Frame_Shift_Del_p.P101fs|ARHGAP17_uc002dna.3_Frame_Shift_Del_p.P304fs|ARHGAP17_uc002dnc.3_Frame_Shift_Del_p.P499fs|ARHGAP17_uc010vcf.2_Frame_Shift_Del_p.P320fs	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	577	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCTTCGGTTTGGGAGGACTAA	0.483													---	56	---	---	16	---					
ZFX	7543	broad.mit.edu	37	X	24197828	24197828	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A2JF-06A-11D-A196-08	TCGA-D3-A2JF-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85abe195-28cc-4440-8de8-d43704ea04ad	c3e3213a-33de-4922-aabc-272ef0c84173	g.chrX:24197828delT	uc011mjv.2	+	4	953	c.704delT	c.(703-705)atcfs	p.I235fs	ZFX_uc004dbd.2_Frame_Shift_Del_p.I196fs|ZFX_uc004dbf.3_Frame_Shift_Del_p.I196fs|ZFX_uc004dbe.3_Frame_Shift_Del_p.I196fs|ZFX_uc022bua.1_Frame_Shift_Del_p.I196fs|ZFX_uc010nfx.2_Intron|ZFX_uc010nfy.1_Frame_Shift_Del_p.I196fs	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GCCAATGGGATCCCTGTGGAC	0.453													---	44	---	---	56	---