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
ABHD13	84945	broad.mit.edu	37	13	108882071	108882071	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:108882071T>C	uc001vqq.3	+	1	770	c.505T>C	c.(505-507)Tct>Cct	p.S169P	ABHD13_uc021rml.1_Missense_Mutation_p.S169P	NM_032859	NP_116248	Q7L211	ABHDD_HUMAN	Homo sapiens abhydrolase domain containing 13 (ABHD13), mRNA.	169						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTACTTAGATTCTGAAGCTGT	0.388000														37			20		0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746540	158746540	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:158746540C>T	uc010pir.2	-	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTAATGATTTCCTTGTTACGA	0.408000														65			23		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873661	36873661	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:36873661C>T	uc003cgj.3	-	20	7529	c.7281G>A	c.(7279-7281)tgG>tgA	p.W2427*		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2427					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGACATTCTTCCAGAGGCGGG	0.522000														73			12		0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62595446	62595446	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:62595446G>A	uc002yhl.1	-	7	1512	c.1458C>T	c.(1456-1458)gcC>gcT	p.A486A		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGCCACAGGGGCCGGTGCCT	0.687000														97			46		0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84234394	84234394	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:84234394C>T	uc003hoj.4	-	3	645	c.546G>A	c.(544-546)ctG>ctA	p.L182L	HPSE_uc003hoi.3_Intron|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Intron|HPSE_uc003hok.4_Silent_p.L182L|HPSE_uc011cct.2_Silent_p.L182L	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	182					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)	AGATCAAGTCCAGTCCTGAGC	0.428000														36			6		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370307	126370307	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:126370307G>A	uc003ifj.4	+	8	8136	c.8136G>A	c.(8134-8136)atG>atA	p.M2712I	FAT4_uc011cgp.2_Missense_Mutation_p.M1010I|FAT4_uc003ifi.1_Missense_Mutation_p.M190I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2712	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGGCAACATGGAAAATAGTT	0.373000														50			23		0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19547658	19547658	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:19547658C>T	uc002dgl.4	+	3	914	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	CCP110_uc002dgk.4_Missense_Mutation_p.P223S	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	223	CEP97 binding.				G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CATCCCAGATCCCTATGTAAT	0.398000														83			22		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418833	105418834	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:105418833_105418834GG>AA	uc010axc.1	-	6	3074_3075	c.2954_2955CC>TT	c.(2953-2955)tcc>tTT	p.S985F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S885F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	985						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)			TGTCGGCCAGGGACAGGTCCCC	0.614000														252			71		0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169842890	169842890	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:169842890G>A	uc001ggs.2	-	4	667	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	SCYL3_uc001ggt.2_Silent_p.L157L	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	157	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATACTCCTCAGAAACTAGACA	0.348000														28			16		0	0	1	0	0
ETFA	2108	broad.mit.edu	37	15	76523697	76523697	+	Silent	SNP	A	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:76523697A>G	uc002bbt.2	-	9	940	c.859T>C	c.(859-861)Tta>Cta	p.L287L	ETFA_uc010bkq.1_Silent_p.L238L	NM_000126	NP_000117	P13804	ETFA_HUMAN	Homo sapiens electron-transfer-flavoprotein, alpha polypeptide (ETFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	287					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						ATCCCAGCTAAATGTTGGATG	0.313000														18			10		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551675	165551675	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:165551675C>T	uc002ucp.3	-	11	2563	c.2341G>A	c.(2341-2343)Gaa>Aaa	p.E781K	COBLL1_uc002ucq.3_Missense_Mutation_p.E743K|COBLL1_uc010zcw.2_Missense_Mutation_p.E848K|COBLL1_uc010zcx.2_Missense_Mutation_p.E789K|COBLL1_uc002ucn.3_Missense_Mutation_p.E209K|COBLL1_uc002uco.3_Missense_Mutation_p.E512K	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	819										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTCGATATTTCCAAGGATTTG	0.378000														57			24		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125061968	125061968	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:125061968G>A	uc003yqw.3	+	21	3051	c.2845G>A	c.(2845-2847)Gat>Aat	p.D949N	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	949						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)			CTCTGGAGGGGATCTCCTTGC	0.532000														55			14		0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154042090	154042090	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:154042090C>T	uc003ezy.4	-	0	197	c.116G>A	c.(115-117)gGc>gAc	p.G39D	DHX36_uc010hvq.3_Missense_Mutation_p.G39D|DHX36_uc003ezz.4_Missense_Mutation_p.G39D	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	39	Gly-rich.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCCGCCGCCGCCTCCTCCGGA	0.706000														52			9		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600510	31600510	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:31600510C>T	uc003nvb.4	+	15	4309	c.4060C>T	c.(4060-4062)Cct>Tct	p.P1354S	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P1354S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1354	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGTGGGAACTCCTGGGGGAGG	0.582000														76			27		0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46316926	46316926	+	Silent	SNP	A	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:46316926A>G	uc001rox.3	-	12	4205	c.3918T>C	c.(3916-3918)agT>agC	p.S1306S	SCAF11_uc001row.3_Silent_p.S991S	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	1306					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CATGAGAAGAACTAGGAATAC	0.373000														43			8		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576762	28576762	+	Missense_Mutation	SNP	C	T	T	rs142851621	byFrequency	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:28576762C>T	uc002kwj.4	-	14	2643	c.2488G>A	c.(2488-2490)Ggt>Agt	p.G830S	DSC3_uc002kwi.4_Missense_Mutation_p.G830S	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	830					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.L829R(1)|p.L829L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTCACTTCACCGAGACGGGGT	0.423000														43			14		0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9237290	9237290	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:9237290C>T	uc010xkl.2	-	0	337	c.337G>A	c.(337-339)Gga>Aga	p.G113R		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ACCAGAATTCCATTTTCCAAT	0.478000														67			32		0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510647	48510647	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:48510647C>T	uc010rhx.2	+	0	303	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	101					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						AGCTCTTTATCGAGCACATTT	0.428000														66			19		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795961	15795961	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:15795961G>A	uc002nbl.3	+	8	1188	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTGCCGACAGGAGGTGCAAGA	0.582000														41			10		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69045040	69045040	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:69045040A>C	uc010fdg.3	+	7	1336	c.917A>C	c.(916-918)aAc>aCc	p.N306T	ARHGAP25_uc010yql.2_Missense_Mutation_p.N266T|ARHGAP25_uc002sev.3_Missense_Mutation_p.N299T|ARHGAP25_uc002sew.3_Missense_Mutation_p.N298T|ARHGAP25_uc002sex.3_Missense_Mutation_p.N299T|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	305	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGTGCTGTTAACAAGATGAGT	0.498000														18			3		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734624	141734624	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:141734624C>T	uc003vwy.3	+	15	1996	c.1942C>T	c.(1942-1944)Ctt>Ttt	p.L648F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	648	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGAGTTCAACCTTTTTGGCAT	0.502000														28			8		0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100912350	100912350	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:100912350G>A	uc010nnt.2	-	4	1034	c.225C>T	c.(223-225)gtC>gtT	p.V75V	ARMCX2_uc004eid.2_Silent_p.V75V|ARMCX2_uc004eie.3_Silent_p.V75V|ARMCX2_uc004eif.3_Silent_p.V75V|ARMCX2_uc004eig.3_Silent_p.V75V|ARMCX2_uc022caq.1_Silent_p.V75V	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	75						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTTCAGCACGGACTGGGGTTG	0.617000														16			11		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930495	46930495	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:46930495C>T	uc003gxg.3	-	8	2395	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	GABRA4_uc021xnz.1_Missense_Mutation_p.G452E|GABRA4_uc021xoa.1_Missense_Mutation_p.G401E	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	471					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAAGCAGATCCAACTGAAGC	0.473000														47			6		0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49224060	49224060	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:49224060G>A	uc002pki.3	-	11	3084	c.2887C>T	c.(2887-2889)Cct>Tct	p.P963S	MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.3_Missense_Mutation_p.P224S	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	963					signal transduction	Golgi stack|perinuclear region of cytoplasm		p.P963A(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGTTCTCAAGGAGACGTGGCC	0.592000														208			26		0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23828960	23828960	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:23828960C>T	uc001wjo.3	-	3	1335	c.727G>A	c.(727-729)Ggg>Agg	p.G243R	EFS_uc001wjp.3_Missense_Mutation_p.G150R|EFS_uc010tnm.2_Intron	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	243	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CCGCCCTCCCCGTCTGCCAGC	0.647000														74			8		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152382559	152382559	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:152382559C>T	uc021vrb.1	-	120	17000	c.16971G>A	c.(16969-16971)aaG>aaA	p.K5657K	NEB_uc002txr.3_Silent_p.K2123K|NEB_uc002txu.3_Silent_p.K7358K|NEB_uc021vrc.1_Silent_p.K7358K|NEB_uc010fnx.3_Silent_p.K5645K|NEB_uc021vrd.1_Silent_p.K5657K|NEB_uc002txt.4_Silent_p.K162K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5657					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)		CCAAGTGCTTCTTGACATGGT	0.517000														144			34		0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35870205	35870205	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:35870205T>C	uc011lph.2	-	0	194	c.194A>G	c.(193-195)aAc>aGc	p.N65S		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily J, member 1 (OR13J1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GGTAGAGAGGTTGCCCAGGAA	0.582000														14			8		0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100225925	100225925	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:100225925G>A	uc003uvv.1	-	10	1464	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	TFR2_uc010lhc.1_Silent_p.F6F|TFR2_uc003uvu.1_Silent_p.F294F	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	465					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCGGGGCCGGAAGCCTGGGG	0.627000														51			10		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287673	16287673	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:16287673C>G	uc010gqp.2	-	0	265	c.213G>C	c.(211-213)tgG>tgC	p.W71C	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	71								p.W71C(2)|p.P70T(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCACCAGGGGAAGC	0.582000														119			4		0	0	1	0	0
LRRC20	55222	broad.mit.edu	37	10	72100374	72100374	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:72100374G>A	uc001jqx.1	-	2	389	c.167C>T	c.(166-168)aCc>aTc	p.T56I	LRRC20_uc001jqy.1_Missense_Mutation_p.T56I|LRRC20_uc001jqz.1_Intron	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	56										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GTTAGCCAGGGTGATGAGGTG	0.567000														22			12		0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41003741	41003741	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:41003741C>T	uc002ibv.3	+	0	541	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	127					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.I127T(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CACTGGCCATCGTCTTCTTTG	0.647000														24			7		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590199	156590199	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:156590199C>T	uc003lwn.3	-	1	1177	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	359						nucleus		p.S359S(2)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCCCGCCATCGAGGTGGAAG	0.572000														37			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598099	179598099	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:179598099G>A	uc021vsy.1	-	50	12414	c.12189C>T	c.(12187-12189)taC>taT	p.Y4063Y	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.Y724Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4990							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)			AACTTATTCGGTATTTTTTAC	0.468000														67			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449483	179449483	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:179449483C>T	uc021vsy.1	-	258	57406	c.57181G>A	c.(57181-57183)Gag>Aag	p.E19061K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12756K|TTN_uc021vta.1_Missense_Mutation_p.E12689K|TTN_uc021vtb.1_Missense_Mutation_p.E12564K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19988	Fibronectin type-III 38.						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)			AAGATGTACTCCTGGCCTGGG	0.498000														174			30		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906319	13906319	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:13906319G>A	uc001rbt.2	-	2	1121	c.942C>T	c.(940-942)atC>atT	p.I314I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	314					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)	TGGGCTCAGGGATGAAGCTGT	0.488000														51			15		0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120181835	120181835	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:120181835G>A	uc004eto.3	+	0	374	c.297G>A	c.(295-297)cgG>cgA	p.R99R		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	99					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|GTP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCAGAAGCGGAACCGGGTGC	0.622000														27			30		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45292945	45292945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:45292945C>T	uc010olf.2	-	15	2420	c.2408G>A	c.(2407-2409)gGg>gAg	p.G803E	PTCH2_uc021omv.1_Missense_Mutation_p.G803E|PTCH2_uc010olg.2_Missense_Mutation_p.G501E	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	803					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)					GGTGATGCGCCCAGAAGCCCA	0.622000									Basal Cell Nevus syndrome					45			28		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38738864	38738864	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:38738864C>T	uc003ciq.3	-	26	5847	c.5847G>A	c.(5845-5847)atG>atA	p.M1949I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1949					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)	CAATCAGCTCCATACTGGTGG	0.473000														43			3		0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52416749	52416749	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:52416749T>G	uc002abt.1	-	11	1162	c.1097A>C	c.(1096-1098)cAt>cCt	p.H366P	GNB5_uc002abr.1_Missense_Mutation_p.H324P|GNB5_uc002abs.1_Missense_Mutation_p.H254P	NM_016194	NP_057278	O14775	GBB5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA.	366						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCGGTTTTCATGTCCAAACAG	0.502000														35			20		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40135956	40135956	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:40135956C>T	uc021qgf.1	-	0	1887	c.1887G>A	c.(1885-1887)atG>atA	p.M629I	LRRC4C_uc001mxc.1_Missense_Mutation_p.M625I|LRRC4C_uc001mxd.1_Missense_Mutation_p.M625I|LRRC4C_uc001mxa.1_Missense_Mutation_p.M629I|LRRC4C_uc001mxb.1_Missense_Mutation_p.M625I	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	629					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTTTAGAGTTCATTCGGATCA	0.303000														35			4		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43216976	43216976	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:43216976G>A	uc002lbe.3	+	5	1488	c.672G>A	c.(670-672)ttG>ttA	p.L224L	SLC14A2_uc002lbb.3_Silent_p.L224L|SLC14A2_uc010dnj.3_Silent_p.L224L	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	224						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTAGTGCCTTGAATTCCATCT	0.507000														219			70		0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32438053	32438053	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:32438053C>T	uc001mtn.2	-	4	1174	c.984G>A	c.(982-984)tgG>tgA	p.W328*	WT1_uc001mtl.2_Nonsense_Mutation_p.W116*|WT1_uc001mtm.2_Intron|WT1_uc001mto.2_Nonsense_Mutation_p.W328*|WT1_uc001mtq.2_Intron|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	260					RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.Y327H(1)|p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GCCCTTCTGTCCATTTCACTG	0.557000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome					268			46		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62209576	62209576	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:62209576C>T	uc002agz.3	-	59	8110	c.8019G>A	c.(8017-8019)cgG>cgA	p.R2673R	VPS13C_uc002aha.3_Silent_p.R2630R|VPS13C_uc002ahb.2_Silent_p.R2673R|VPS13C_uc002ahc.2_Silent_p.R2630R|VPS13C_uc002ahd.1_Silent_p.R50R	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2673					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGAGAAGATTCCGCAAAGTGA	0.358000														37			3		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150761	247150761	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:247150761G>A	uc009xgu.3	-	3	1241	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	352					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTCACATCGGAAGGTTTTCT	0.388000														14			4		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487278	248487278	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:248487278A>C	uc010pzk.2	-	0	593	c.593T>G	c.(592-594)gTt>gGt	p.V198G		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V198V(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGAAAATAACCTCTTCAAA	0.433000														216			89		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106963009	106963009	+	RNA	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:106963009C>T	uc021ser.1	-	268		c.10721G>A								Parts of antibodies, mostly variable regions.																		TAGACCTGTCCCTGGTAATGG	0.507000														99			46		0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29908761	29908761	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:29908761G>A	uc021qwi.1	-	3	671	c.612C>T	c.(610-612)ttC>ttT	p.F204F	TMTC1_uc001rjb.3_Silent_p.F96F|TMTC1_uc001rjc.1_Silent_p.F96F	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	204						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGAGCAGCAAGAAGAAGGGAG	0.463000														21			10		0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57922304	57922304	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:57922304G>A	uc001soj.1	+	9	3005	c.2781G>A	c.(2779-2781)aaG>aaA	p.K927K	MBD6_uc001sok.1_Silent_p.K795K|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	927						chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTGAGCCCAAGGATCCACCCC	0.587000														62			7		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127671160	127671160	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:127671160C>T	uc003kuu.3	-	28	4273	c.3834G>A	c.(3832-3834)ggG>ggA	p.G1278G	FBN2_uc003kuv.2_Silent_p.G1245G	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1278	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACACGATCTCCCATCTGGCA	0.433000														119			16		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346880	48346880	+	Missense_Mutation	SNP	C	T	T	rs144142268		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:48346880C>T	uc010rhv.2	+	0	388	c.388C>T	c.(388-390)Cat>Tat	p.H130Y		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	103					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						CTTTGGAGCTCATTTTTTGGG	0.458000														167			32		0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44549970	44549970	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:44549970C>T	uc002ruf.3	-	11	2879	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	PREPL_uc002rug.3_Silent_p.T574T|PREPL_uc002ruh.3_Silent_p.T578T|PREPL_uc010fax.3_Silent_p.T640T|PREPL_uc002rui.4_Silent_p.T551T|PREPL_uc002ruj.2_Silent_p.T551T|PREPL_uc002ruk.2_Silent_p.T640T	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	640					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTCATATGCCGTTATGTGAA	0.388000														63			24		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169143026	169143026	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:169143026G>A	uc003irp.3	-	35	5123	c.4831C>T	c.(4831-4833)Cta>Tta	p.L1611L	DDX60_uc003iro.3_Silent_p.L82L	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1611							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATTGTGCCTAGAGTAACCTGA	0.363000														22			3		0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155090268	155090268	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:155090268C>T	uc003wly.3	+	1	484	c.273C>T	c.(271-273)ctC>ctT	p.L91L	INSIG1_uc003wlz.3_Silent_p.L91L|INSIG1_uc011kvu.2_Intron	NM_005542	NP_005533	O15503	INSI1_HUMAN	Homo sapiens insulin induced gene 1 (INSIG1), transcript variant 1, mRNA.	91					ER-nuclear sterol response pathway|cell proliferation	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTCGTGCTCTTCTCGGTTG	0.647000														9			4		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189026387	189026387	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:189026387C>T	uc011cle.1	-	0	358	c.136G>A	c.(136-138)Gag>Aag	p.E46K	TRIML2_uc003izl.2_5'UTR|TRIML2_uc011clf.1_Missense_Mutation_p.E46K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	0							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGTTTGTGCTCCTGGGACTGG	0.478000														99			20		0	0	1	0	0
NUDT2	318	broad.mit.edu	37	9	34343217	34343217	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:34343217G>A	uc003zuc.3	+	4	510	c.223G>A	c.(223-225)Ggg>Agg	p.G75R	NUDT2_uc003zub.3_Missense_Mutation_p.G75R|NUDT2_uc003zud.3_Missense_Mutation_p.G75R|NUDT2_uc022bga.1_Missense_Mutation_p.G75R	NM_147172	NP_671701	P50583	AP4A_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 2 (NUDT2), transcript variant 2, mRNA.	75	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		GTP binding|bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CATTATTGAGGGGTTCAAAAG	0.522000														68			39		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633044	32633044	+	Missense_Mutation	SNP	C	T	T	rs34787787		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:32633044C>T	uc003zrg.1	-	0	2624	c.2534G>A	c.(2533-2535)cGa>cAa	p.R845Q	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.	845			R -> Q (in dbSNP:rs34787787).		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.R845Q(2)		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)		ATCTTCCATTCGTATCCTCCG	0.458000														58			26		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13616159	13616159	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:13616159C>A	uc003gmz.1	-	3	952	c.835G>T	c.(835-837)Gag>Tag	p.E279*	BOD1L1_uc010idr.1_5'UTR|BOD1L1_uc010ids.1_Non-coding_Transcript	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	279							DNA binding										TCGCTGAACTCTTCAGACTTT	0.398000														35			16		6.49762e-13	6.66883e-13	1	1	0
MYH4	4622	broad.mit.edu	37	17	10348605	10348605	+	Silent	SNP	G	A	A	rs149221663		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:10348605G>A	uc002gmn.3	-	35	5355	c.5244C>T	c.(5242-5244)atC>atT	p.I1748I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1748					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						CTTCCTGGACGATGTCCTCCA	0.468000														78			26		0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198508932	198508932	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:198508932G>A	uc002uuo.4	-	2	790	c.388C>T	c.(388-390)Cta>Tta	p.L130L		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	Homo sapiens raftlin family member 2 (RFTN2), mRNA.	130						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TCAGAAGTTAGGGGACATTCC	0.428000														36			12		0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351222	60351222	+	Silent	SNP	T	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:60351222T>C	uc002izq.2	-	2	205	c.93A>G	c.(91-93)ccA>ccG	p.P31P	TBC1D3P2_uc010woz.2_Non-coding_Transcript					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						CCTTGTCCTCTGGCAGCCCAG	0.597000														154			50		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29553544	29553544	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:29553544C>T	uc002hgg.3	+	17	2476	c.2093C>T	c.(2092-2094)cCt>cTt	p.P698L	NF1_uc002hgh.3_Missense_Mutation_p.P698L|NF1_uc010csn.2_Missense_Mutation_p.P558L|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	698					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGTGGAACCCTGACACTGAA	0.547000			"""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)				68			24		0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197002303	197002303	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:197002303G>A	uc002utk.3	-	7	1311	c.987C>T	c.(985-987)tcC>tcT	p.S329S	STK17B_uc010fsh.3_Silent_p.S329S	NM_004226	NP_004217	O94768	ST17B_HUMAN	Homo sapiens serine/threonine kinase 17b (STK17B), mRNA.	329					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TTCCATTACAGGAGGATTTAG	0.418000														58			6		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524991	187524991	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:187524991G>A	uc003izf.3	-	18	10877	c.10689C>T	c.(10687-10689)gtC>gtT	p.V3563V		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3563	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTTCCCAATGACGCCACCTG	0.493000										HNSCC(5;0.00058)				14			7		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686783	53686783	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:53686783G>A	uc002ehp.3	-	14	1880	c.1816C>T	c.(1816-1818)Cta>Tta	p.L606L	RPGRIP1L_uc002eho.4_Silent_p.L606L|RPGRIP1L_uc010vgy.2_Silent_p.L606L|RPGRIP1L_uc010cbx.3_Silent_p.L606L|RPGRIP1L_uc010vgz.1_Silent_p.L606L	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	606					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATTTCAAATAGATTTTCGCCT	0.378000														37			10		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764646	82764646	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:82764646G>A	uc003uhx.2	-	2	2509	c.2220C>T	c.(2218-2220)gtC>gtT	p.V740V	PCLO_uc003uhv.2_Silent_p.V740V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	686	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTCAGATGGGACAGAAGGTT	0.517000														39			11		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117657	117657	+	RNA	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrGL000205.1:117657G>A	uc002kgk.4	+	0		c.1035G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGGAAGGCACGCGAGTTCAGA	0.622000														19			3		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176309036	176309036	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:176309036C>T	uc003mfa.3	-	15	2238	c.2146G>A	c.(2146-2148)Ggc>Agc	p.G716S	HK3_uc003mez.3_Missense_Mutation_p.G272S	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	716	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAAAGGCGCCCCACTCCATG	0.632000														75			28		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10323480	10323480	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:10323480G>A	uc002gmm.2	-	2	160	c.65C>T	c.(64-66)tCa>tTa	p.S22L	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	22	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						CTCCTTTTCTGATTTTCGAAG	0.483000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					73			27		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47870327	47870327	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:47870327C>T	uc010xyn.2	+	6	2032	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	DHX34_uc010elc.1_Silent_p.L476L	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	561						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TCCTCTACCTCCGGGACCAGG	0.627000														27			12		0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11892470	11892470	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:11892470G>A	uc010dyj.3	+	3	2025	c.1831G>A	c.(1831-1833)Gga>Aga	p.G611R	ZNF441_uc002msn.4_Missense_Mutation_p.G567R	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTCACACTGGAGAGAAACC	0.393000														29			13		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949514	89949514	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:89949514G>A	uc003kju.3	+	19	4219	c.4123G>A	c.(4123-4125)Gat>Aat	p.D1375N	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1375					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)		TATAGCGAAGGATGACGGTAA	0.403000														17			3		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28714649	28714649	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:28714649C>T	uc002kwn.3	-	11	2024	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	DSC1_uc002kwm.3_Missense_Mutation_p.E588K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	588	Cadherin 5.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCAAAATCCTCATTATTCTGA	0.393000														12			12		0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30974848	30974848	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:30974848C>T	uc002ead.1	+	4	1298	c.612C>T	c.(610-612)ttC>ttT	p.F204F	SETD1A_uc002eae.1_Silent_p.F204F	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	204					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	p.K203*(1)|p.K203N(1)		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						GTGAGAAGTTCCAAGGCTCGG	0.572000														67			34		0	0	1	0	0
SMCR7	125170	broad.mit.edu	37	17	18167550	18167550	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:18167550C>T	uc010vxq.2	+	3	896	c.870C>T	c.(868-870)atC>atT	p.I290I	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Silent_p.I279I	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	279						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GGTGCCTGATCCGGCCCAGCA	0.667000														35			14		0	0	1	0	0
MEF2A	4205	broad.mit.edu	37	15	100215612	100215612	+	Silent	SNP	T	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:100215612T>C	uc010urw.2	+	5	984	c.625T>C	c.(625-627)Ttg>Ctg	p.L209L	MEF2A_uc002bve.3_Silent_p.L207L|MEF2A_uc002bvg.3_Silent_p.L207L|MEF2A_uc010urv.2_Silent_p.L139L|MEF2A_uc010bos.3_Silent_p.L207L|MEF2A_uc002bvf.3_Silent_p.L209L|MEF2A_uc002bvi.3_Silent_p.L207L|MEF2A_uc010bot.3_Silent_p.L139L	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	209					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			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)			AGGTGGGATGTTGAGCACTAC	0.433000														43			6		0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72183972	72183972	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:72183972T>G	uc003kck.4	+	12	1518	c.1371T>G	c.(1369-1371)gaT>gaG	p.D457E	TNPO1_uc011csj.1_Missense_Mutation_p.D407E|TNPO1_uc003kci.4_Missense_Mutation_p.D449E|TNPO1_uc003kcg.4_Missense_Mutation_p.D449E	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	457					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCCTCTCTGATAAAAAGGCTC	0.448000														60			13		0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101904856	101904856	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:101904856T>G	uc004azc.3	+	4	920	c.844T>G	c.(844-846)Tat>Gat	p.Y282D	TGFBR1_uc004azd.3_Missense_Mutation_p.Y205D|TGFBR1_uc004aze.3_Missense_Mutation_p.Y286D|TGFBR1_uc011lvc.2_Missense_Mutation_p.Y213D	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	282	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of SMAD protein import into nucleus|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGTGTCAGATTATCATGAGCA	0.413000														31			12		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702583	30702583	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:30702583G>A	uc003xil.3	-	0	3951	c.3951C>T	c.(3949-3951)ttC>ttT	p.F1317F		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1317										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)		GGCCCATAAGGAAGTTTCCTG	0.373000														79			19		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78666819	78666819	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:78666819C>T	uc003dqe.2	-	26	4456	c.4248G>A	c.(4246-4248)ctG>ctA	p.L1416L	ROBO1_uc003dqc.2_Silent_p.L1316L|ROBO1_uc003dqd.2_Silent_p.L1371L|ROBO1_uc003dqb.2_Silent_p.L1377L|ROBO1_uc010hoh.2_Silent_p.L608L|ROBO1_uc011bgl.1_Silent_p.L988L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1416					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding	p.E1416V(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTGCTACTTTCAGACCAGCAT	0.493000														50			6		0	0	1	0	0
DRAM2	128338	broad.mit.edu	37	1	111663232	111663232	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:111663232G>A	uc001ead.4	-	5	680	c.423C>T	c.(421-423)atC>atT	p.I141I	DRAM2_uc001eae.4_Silent_p.I141I|DRAM2_uc009wfy.3_Non-coding_Transcript	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	Homo sapiens DNA-damage regulated autophagy modulator 2 (DRAM2), mRNA.	141					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						GGTAGGAAAGGATGGTCTGAA	0.428000														27			5		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080314	5080314	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:5080314C>T	uc010qyw.2	-	0	544	c.544G>A	c.(544-546)Gag>Aag	p.E182K		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCCATGTGCTCACAGTAGGTG	0.398000														20			3		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82838004	82838004	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:82838004C>T	uc003kii.3	+	7	9538	c.9182C>T	c.(9181-9183)tCc>tTc	p.S3061F	VCAN_uc003kij.3_Missense_Mutation_p.S2074F|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S1725F	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3061	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.S3061F(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCACCATTTTCCCTTCTGGAG	0.423000														61			5		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108380723	108380723	+	Splice_Site	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:108380723G>A	uc003dxd.3	+	20	2622	c.2200_splice	c.e20-1	p.G734_splice	DZIP3_uc003dxf.1_Splice_Site_p.G734_splice|DZIP3_uc011bhm.2_Splice_Site_p.G185_splice	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	734					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTGCTCAATAGGGCTCAGCTG	0.353000														18			6		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4207943	4207943	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:4207943C>T	uc010dtt.1	+	9	1086	c.810C>T	c.(808-810)gcC>gcT	p.A270A	ANKRD24_uc002lzs.2_Silent_p.A241A|ANKRD24_uc002lzt.2_Silent_p.A242A	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	270										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AAGAGGCGGCCCAGCGCCCCT	0.627000											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		5			5		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058043	114058043	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:114058043G>A	uc003ebi.3	-	4	2215	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	ZBTB20_uc003ebj.3_Nonsense_Mutation_p.R606*|ZBTB20_uc010hqp.3_Nonsense_Mutation_p.R606*|ZBTB20_uc003ebk.3_Nonsense_Mutation_p.R606*|ZBTB20_uc003ebl.3_Nonsense_Mutation_p.R606*|ZBTB20_uc003ebm.3_Nonsense_Mutation_p.R606*|ZBTB20_uc003ebn.3_Nonsense_Mutation_p.R606*	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCCACGTGTCGCTCCAGGAGG	0.652000														62			6		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129785672	129785672	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:129785672G>A	uc001qfm.3	-	16	2653	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	PRDM10_uc001qfj.3_Silent_p.L721L|PRDM10_uc001qfk.3_Silent_p.L717L|PRDM10_uc001qfl.3_Silent_p.L721L|PRDM10_uc010sbx.2_Silent_p.L717L|PRDM10_uc001qfn.3_Silent_p.L803L|PRDM10_uc009zcs.1_5'UTR	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAGCGGGTCGGAGCTTCCGAA	0.607000														72			32		0	0	1	0	0
RPL22	6146	broad.mit.edu	37	1	6253009	6253009	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:6253009C>A	uc001amd.3	-	2	269	c.223G>T	c.(223-225)Gag>Tag	p.E75*	RPL22_uc001ame.3_Nonsense_Mutation_p.E75*	NM_000983	NP_000974	P35268	RL22_HUMAN	Homo sapiens ribosomal protein L22 (RPL22), mRNA.	75					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|heparin binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AAAGGCACCTCGGATGTCACG	0.567000			T	RUNX1	"""AML, CML"""									47			28		2.46105e-21	2.55281e-21	1	1	0
TRIM10	10107	broad.mit.edu	37	6	30128214	30128214	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:30128214G>A	uc003npo.3	-	0	498	c.422C>T	c.(421-423)cCc>cTc	p.P141L	TRIM10_uc003npn.2_Missense_Mutation_p.P141L|TRIM15_uc010jrx.3_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	141						cytoplasm	zinc ion binding			ovary(1)	1						TACCCTATAGGGAGCCGCTGC	0.577000														35			18		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25572674	25572674	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:25572674C>T	uc002kwg.2	-	8	1748	c.1289G>A	c.(1288-1290)cGg>cAg	p.R430Q	CDH2_uc010xbn.1_Missense_Mutation_p.R399Q	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	430	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATGGCGAACCGTCCAGTAGG	0.527000														57			18		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996371	19996371	+	Silent	SNP	T	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:19996371T>C	uc002ktv.1	-	0	1508	c.1404A>G	c.(1402-1404)gaA>gaG	p.E468E		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	468						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAGGATCTTTTTCTAAAAGTT	0.378000														45			17		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137271876	137271876	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:137271876C>T	uc003vtt.3	-	12	1393	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G	DGKI_uc003vtu.3_Silent_p.G164G	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	464	DAGKc.				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						CCAGGTCATTCCCAGTCCCCA	0.577000														54			18		0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32953892	32953892	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:32953892C>T	uc001mty.3	+	3	968	c.701C>T	c.(700-702)tCc>tTc	p.S234F	QSER1_uc001mtz.1_Missense_Mutation_p.S234F|QSER1_uc001mua.3_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	234	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCATCTTTATCCTGTAGCCCA	0.443000														31			8		0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66113976	66113976	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:66113976G>A	uc001ohr.3	-	0	1186	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank|TRNA_Ser_uc021qlw.1_5'Flank	NM_006876	NP_006867	O43505	B3GN1_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1), mRNA.	347					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TGATTCGGTTGAAGCCGTACT	0.622000														102			38		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65342558	65342558	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:65342558C>T	uc003dmn.3	-	22	4410	c.3884G>A	c.(3883-3885)cGa>cAa	p.R1295Q	MAGI1_uc003dmm.3_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1324					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTCCTTGGGTCGGCATGCCCC	0.672000														71			6		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086790	39086790	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:39086790C>T	uc011aej.1	-	2	723	c.670G>A	c.(670-672)Gta>Ata	p.V224I	KCNJ6_uc002ywo.2_Missense_Mutation_p.V224I	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	224					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.R223R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AGGTCCCCTACCCGGAACATC	0.517000														60			9		0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35423924	35423924	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:35423924C>T	uc003oko.1	+	1	834	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S	FANCE_uc010jvw.1_Missense_Mutation_p.P217S	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	217	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GAAGAGGGTCCCCAAAAGATT	0.542000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					42			8		0	0	1	0	0
C1orf55	163859	broad.mit.edu	37	1	226180625	226180625	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:226180625C>T	uc001hpu.4	-	2	370	c.317G>A	c.(316-318)gGa>gAa	p.G106E		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	106										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					TAGTCTCCTTCCACTGAGATC	0.418000														34			14		0	0	1	0	0
RWDD3	25950	broad.mit.edu	37	1	95710055	95710055	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:95710055A>G	uc009wdu.3	+	1	450	c.374A>G	c.(373-375)gAa>gGa	p.E125G	TMEM56_uc001drd.4_3'UTR|RWDD3_uc010oty.2_Missense_Mutation_p.E110G|RWDD3_uc009wdt.3_Missense_Mutation_p.E125G|RWDD3_uc001drh.4_Missense_Mutation_p.E110G|RWDD3_uc001dri.4_Missense_Mutation_p.E125G|RWDD3_uc001drf.4_Missense_Mutation_p.E125G|RWDD3_uc009wdv.3_Intron|RWDD3_uc001drg.4_Non-coding_Transcript	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	Homo sapiens RWD domain containing 3 (RWDD3), transcript variant 1, mRNA.	125						cytoplasm|nucleus	protein binding	p.S124R(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGTGGCAGTGAAAAGTGTACT	0.428000														65			8		0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71318529	71318529	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:71318529C>T	uc001dfk.1	-	3	1349	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	PTGER3_uc001dfg.1_3'UTR|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.G364E	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GTTTTAATTTCCCCAAAATTC	0.338000														106			36		0	0	1	0	0
MDM4	4194	broad.mit.edu	37	1	204511992	204511992	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:204511992C>T	uc001hba.3	+	7	758	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	MDM4_uc001hbd.2_Non-coding_Transcript|MDM4_uc010pqw.2_Non-coding_Transcript|MDM4_uc010pqx.2_Silent_p.L71L|MDM4_uc001hay.2_Silent_p.L198L|MDM4_uc021phx.1_Intron|MDM4_uc001hbb.3_Silent_p.L71L|MDM4_uc010pqy.2_Intron|MDM4_uc001hbc.3_Non-coding_Transcript|MDM4_uc009xbe.1_Non-coding_Transcript	NM_002393	NP_002384	O15151	MDM4_HUMAN	Homo sapiens Mdm4 p53 binding protein homolog (mouse) (MDM4), transcript variant 1, mRNA.	198					G0 to G1 transition|apoptosis|cell proliferation|cellular response to hypoxia|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGTAGCTGGCCTGCCTTGGTG	0.383000			A		"""GBM, bladder, retinoblastoma"""									45			33		0	0	1	0	0
HIGD2B	123346	broad.mit.edu	37	15	72968607	72968607	+	RNA	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:72968607C>T	uc002ava.3	-	2		c.633G>A								Homo sapiens HIG1 hypoxia inducible domain family, member 2B (HIGD2B), non-coding RNA.																		AGGAACTTTTCCTTGAAACCC	0.577000														15			3		0	0	1	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228785	95228785	+	RNA	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:95228785G>A	uc001tdk.2	+	0		c.612G>A								Homo sapiens keratin 19 pseudogene 2 (KRT19P2), non-coding RNA.																		CAGCAGTATTGAAGCCCAGCT	0.582000														16			6		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123518165	123518166	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:123518165_123518166GG>AA	uc010nqy.3	-	29	6679_6680	c.6615_6616CC>TT	c.(6613-6618)ctccga>ctTTga	p.R2206*	ODZ1_uc011muj.2_Nonsense_Mutation_p.R2205*|ODZ1_uc004euj.3_Nonsense_Mutation_p.R2199*	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2199					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ATGCGGTCTCGGAGGTCATATC	0.416000														19			19		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7505163	7505163	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:7505163C>T	uc002mgi.3	+	0	590	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	ARHGEF18_uc010xjm.1_Intron|ARHGEF18_uc002mgh.3_Intron	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	113					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCGGGGCTTCCGCGCCGGGGA	0.632000														2			4		0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960392	7960392	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:7960392G>A	uc010rbi.2	-	0	676	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCATCTTCAGGATGGCAAAC	0.433000														44			14		0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120774820	120774820	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:120774820A>C	uc003you.3	-	18	2663	c.2393T>G	c.(2392-2394)aTg>aGg	p.M798R		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	798					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGCATCAATCATTTCTGCACG	0.328000														19			5		0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7618866	7618866	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:7618866C>T	uc001mfj.4	+	4	836	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	PPFIBP2_uc010rbb.1_Nonsense_Mutation_p.Q73*|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Nonsense_Mutation_p.Q73*|PPFIBP2_uc010rbd.1_5'UTR|PPFIBP2_uc010rbe.2_Nonsense_Mutation_p.Q38*	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	150					DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGAAGGACACCAGGTGAAACT	0.522000														8			3		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37464744	37464744	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:37464744G>A	uc002xje.3	+	1	365	c.176G>A	c.(175-177)gGc>gAc	p.G59D	PPP1R16B_uc010ggc.3_Missense_Mutation_p.G59D	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	59					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGCACGGGCGGCCGCCGCAAG	0.672000														29			12		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940532	22940532	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:22940532G>A	uc021urt.1	-	3	2334	c.2179C>T	c.(2179-2181)Cat>Tat	p.H727Y		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTCCAGTATGAATTATCTCA	0.358000														25			7		0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1828138	1828138	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:1828138G>A	uc002lua.4	-	1	745	c.650C>T	c.(649-651)cCc>cTc	p.P217L	REXO1_uc010dsr.1_Missense_Mutation_p.P171L	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	217						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGCCACTGGGAACGGGGCG	0.677000														69			14		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149502620	149502620	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:149502620C>T	uc010lpk.3	+	56	8424	c.8424C>T	c.(8422-8424)tcC>tcT	p.S2808S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2811	TSP type-1 7.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGATTCATCCTGCCCAGGAG	0.682000														53			8		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63991031	63991031	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:63991031C>G	uc002amp.3	-	25	4949	c.4801G>C	c.(4801-4803)Gga>Cga	p.G1601R	HERC1_uc010uil.1_Missense_Mutation_p.G585R	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1601					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCCACATCTCCACTCACAAAG	0.448000														22			4		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125660611	125660611	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:125660611G>A	uc010flu.3	+	21	3953	c.3589G>A	c.(3589-3591)Gaa>Aaa	p.E1197K	CNTNAP5_uc002tno.3_Missense_Mutation_p.E1196K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1196	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACCTTGACGGAATCCAGCTG	0.547000														10			4		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165218847	165218847	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:165218847G>A	uc001gcz.2	-	3	488	c.294C>T	c.(292-294)ttC>ttT	p.F98F	LMX1A_uc021pdz.1_Silent_p.F98F	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	98	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGATGGCCTCGAAGCAGCCCC	0.542000														18			4		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80732899	80732899	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:80732899G>A	uc001szd.3	+	41	4884	c.4878G>A	c.(4876-4878)caG>caA	p.Q1626Q		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTCAAGTCAGGAACTGTCCA	0.343000														42			19		0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34184278	34184278	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:34184278G>A	uc001mvl.2	-	9	2488	c.2063C>T	c.(2062-2064)gCc>gTc	p.A688V		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	502							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CACACCCTCGGCCAGGATCTC	0.657000														36			14		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47870341	47870342	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:47870341_47870342CC>TT	uc010xyn.2	+	6	2046_2047	c.1697_1698CC>TT	c.(1696-1698)gcc>gTT	p.A566V	DHX34_uc010elc.1_Missense_Mutation_p.A481V	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	566						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GACCAGGGGGCCCTGGACAGCT	0.639000														28			8		0	0	1	0	0
G3BP1	10146	broad.mit.edu	37	5	151166205	151166206	+	Silent	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:151166205_151166206CC>TT	uc003lun.3	+	1	195_196	c.24_25CC>TT	c.(22-27)cccctg>ccTTtg	p.8_9PL>PL	G3BP1_uc010jhy.1_Silent_p.8_9PL>PL|G3BP1_uc003lum.3_Silent_p.8_9PL>PL|G3BP1_uc011dcu.2_5'UTR|G3BP1_uc010jhz.3_5'UTR|AX747080_uc003luo.1_5'Flank|AX747080_uc003lup.1_5'Flank	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	8					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|RNA binding|endonuclease activity|protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGCCTAGTCCCCTGCTGGTCGG	0.475000														54			24		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158541472	158541472	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:158541472G>A	uc003qrc.2	-	10	1293	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	SERAC1_uc003qrb.2_Missense_Mutation_p.P112L	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	384					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TCGATATTGGGGATGCAGCAC	0.438000														70			14		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49425644	49425644	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:49425644G>A	uc001rta.4	-	38	12844	c.12844C>T	c.(12844-12846)Cga>Tga	p.R4282*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4282	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCCTGAGGTCGAGGCCCTGCC	0.677000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				28			3		0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	64041132	64041132	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:64041132G>A	uc001srp.1	-	4	783	c.602C>T	c.(601-603)tCc>tTc	p.S201F	DPY19L2_uc009zqk.1_Non-coding_Transcript	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	201					multicellular organismal development|spermatid development	integral to membrane		p.S201A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCAATACCAGGAGGCTATGAT	0.299000														43			7		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29008254	29008254	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:29008254G>A	uc001usb.3	-	4	902	c.617C>T	c.(616-618)aCc>aTc	p.T206I	FLT1_uc010aar.1_Missense_Mutation_p.T206I|FLT1_uc001usc.3_Missense_Mutation_p.T206I|FLT1_uc010tdp.1_Missense_Mutation_p.T206I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	206	Ig-like C2-type 2.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.T206N(3)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGCTTCACAGGTCAGAAGCCC	0.418000														41			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179427855	179427855	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:179427855C>T	uc021vsy.1	-	274	75525	c.75300G>A	c.(75298-75300)gaG>gaA	p.E25100E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E18795E|TTN_uc021vta.1_Silent_p.E18728E|TTN_uc021vtb.1_Silent_p.E18603E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26027	Fibronectin type-III 82.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCTATCCTCTCCTGAGCAA	0.443000														114			38		0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57282366	57282366	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:57282366C>T	uc003dio.3	+	9	997	c.850C>T	c.(850-852)Ctt>Ttt	p.L284F	APPL1_uc010hnb.3_Missense_Mutation_p.L284F|APPL1_uc011bey.1_Missense_Mutation_p.L267F	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	284	PH.|Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GGCTGGATACCTTAATGCTAG	0.343000														45			7		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195320	19195320	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:19195320G>A	uc002dfw.3	+	4	1133	c.802G>A	c.(802-804)Gag>Aag	p.E268K	SYT17_uc002dfx.3_Missense_Mutation_p.E207K|SYT17_uc002dfy.3_Missense_Mutation_p.E264K	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	268	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CCCCTTCCTGGAGGCCCAGAG	0.547000														106			41		0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74227972	74227972	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:74227972G>A	uc003phi.3	-	5	2037	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	EEF1A1_uc003phj.3_Missense_Mutation_p.H349Y|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	349						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TGGCCTGGATGGTTCAGGATA	0.428000														32			9		0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71663316	71663316	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:71663316C>T	uc002fau.3	+	1	577	c.514C>T	c.(514-516)Cga>Tga	p.R172*	MARVELD3_uc002fas.1_Nonsense_Mutation_p.R172*|MARVELD3_uc002fat.3_Nonsense_Mutation_p.R172*|MARVELD3_uc010cge.3_Silent_p.D117D	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	172						integral to membrane		p.R172R(3)		NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CAGGCCTGGACGAGAGGAGGT	0.517000														46			14		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43904693	43904693	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:43904693C>T	uc001cjk.2	+	46	6634	c.4024C>T	c.(4024-4026)Cta>Tta	p.L1342L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2241						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGCATGGTACCTACGGCAGAA	0.577000														63			26		0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56657115	56657115	+	Silent	SNP	A	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:56657115A>G	uc003did.4	-	22	4881	c.4780T>C	c.(4780-4782)Tta>Cta	p.L1594L	FAM208A_uc003dib.4_Silent_p.L713L|FAM208A_uc003dic.4_Silent_p.L1218L|FAM208A_uc003die.4_3'UTR	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.	1655										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CCCCAACTTAAGGGAGGTGGA	0.353000														42			5		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57860100	57860100	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:57860100G>A	uc001snx.3	+	7	934	c.840G>A	c.(838-840)agG>agA	p.R280R	GLI1_uc021qzi.1_Silent_p.R239R|GLI1_uc009zpq.3_Silent_p.R152R	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	280					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGGAGCTGAGGCCCTTCAAAG	0.602000														93			23		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85672726	85672726	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:85672726G>A	uc003hpd.3	-	35	6291	c.5883C>T	c.(5881-5883)ttC>ttT	p.F1961F		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1961						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)		AGTCAAAAACGAACTTTTTAG	0.443000														62			24		0	0	1	0	0
TAC4	255061	broad.mit.edu	37	17	47921434	47921434	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:47921434C>T	uc002ipo.1	-	1	209	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	TAC4_uc002ipp.1_Missense_Mutation_p.R64Q|TAC4_uc002ipq.1_Missense_Mutation_p.R64Q|TAC4_uc002ipr.1_Missense_Mutation_p.R64Q|TAC4_uc002ips.1_Missense_Mutation_p.R64Q|TAC4_uc002ipt.3_Non-coding_Transcript|TAC4_uc002ipu.3_Non-coding_Transcript|FLJ45513_uc021tzt.1_5'Flank	NM_170685	NP_733786	Q86UU9	TKN4_HUMAN	Homo sapiens tachykinin 4 (hemokinin) (TAC4), transcript variant alpha, mRNA.	70					regulation of blood pressure	extracellular region		p.R70*(1)		breast(1)|large_intestine(1)|lung(3)	5						ACCTCCCACTCGCTTCCCCAT	0.562000														161			27		0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183515287	183515287	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:183515287C>T	uc001gqg.3	+	16	2807	c.2557C>T	c.(2557-2559)Ccc>Tcc	p.P853S	SMG7_uc010pob.2_Missense_Mutation_p.P836S|SMG7_uc021pga.1_Missense_Mutation_p.P765S|SMG7_uc001gqf.3_Missense_Mutation_p.P807S|SMG7_uc001gqh.3_Missense_Mutation_p.P807S|SMG7_uc010poc.2_Missense_Mutation_p.P811S	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	853					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAAGCCTTTTCCCATGGAGCC	0.448000														43			27		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889227	147889228	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:147889227_147889228GG>AA	uc021yfj.1	-	4	914_915	c.867_868CC>TT	c.(865-870)gtccct>gtTTct	p.P290S	HTR4_uc021yfg.1_Missense_Mutation_p.P290S|HTR4_uc021yfh.1_Missense_Mutation_p.P290S|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.P290S|HTR4_uc011dby.1_Missense_Mutation_p.P290S|HTR4_uc003lpn.3_Missense_Mutation_p.P290S|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.P290S	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	290					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	p.P290R(1)		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)	ACCTGCCCAGGGACAGTGTAGT	0.490000														29			10		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150844576	150844576	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:150844576G>A	uc004fev.4	+	15	2615	c.2283G>A	c.(2281-2283)ttG>ttA	p.L761L		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	761						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGACCAGATTGATGCCTGCAG	0.552000														21			19		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1259342	1259342	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:1259342C>T	uc002cks.3	+	16	3922	c.3674C>T	c.(3673-3675)cCc>cTc	p.P1225L	CACNA1H_uc002ckt.3_Missense_Mutation_p.P1225L|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1225					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GTGGCCCTGCCCAGCGACTTC	0.731000														29			9		0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129519149	129519150	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:129519149_129519150GG>AA	uc011muv.2	-	0	362_363	c.272_273CC>TT	c.(271-273)gcc>gTT	p.A91V		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	Homo sapiens G protein-coupled receptor 119 (GPR119), mRNA.	91						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						TGAGGACAGAGGCAGCTGCGGA	0.584000														78			21		0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50360315	50360315	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:50360315C>T	uc002pqf.1	+	5	812	c.642C>T	c.(640-642)ttC>ttT	p.F214F	PTOV1_uc002pqb.4_Silent_p.F182F|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	214	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		p.F214L(2)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AGAAGATCTTCATGGGCCTCA	0.647000														199			57		0	0	1	0	0
PSMF1	9491	broad.mit.edu	37	20	1145691	1145691	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:1145691C>T	uc002wel.4	+	7	951	c.783C>T	c.(781-783)ctC>ctT	p.L261L	PSMF1_uc010zpo.2_Intron|PSMF1_uc010zpp.2_Intron|PSMF1_uc002wen.4_Silent_p.L261L|PSMF1_uc002wep.4_Silent_p.L212L	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	Homo sapiens proteasome (prosome, macropain) inhibitor subunit 1 (PI31) (PSMF1), transcript variant 2, mRNA.	261	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CAGACCATCTCCCCCCGCCGG	0.577000														95			9		0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	69255270	69255270	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:69255270C>T	uc004dxs.3	+	7	1229	c.987C>T	c.(985-987)ttC>ttT	p.F329F	EDA_uc011mpj.2_Silent_p.F324F|EDA_uc004dxr.3_Silent_p.F327F	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	329					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						AGAAGCCCTTCCTGCAGTGCA	0.547000														10			4		0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	140001789	140001789	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:140001789C>T	uc004cld.2	+	10	1689	c.1654C>T	c.(1654-1656)Ctc>Ttc	p.L552F	MAN1B1_uc011mep.2_Missense_Mutation_p.L552F|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_Missense_Mutation_p.L225F	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	552					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)		GGCCCAGGAGCTCATGGAGAC	0.642000														49			25		0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98991178	98991178	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:98991178C>T	uc003yic.3	+	5	1254	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	MATN2_uc003yib.1_Silent_p.S341S|MATN2_uc010mbh.1_Silent_p.S341S|MATN2_uc003yid.3_Silent_p.S341S|MATN2_uc003yie.1_Silent_p.S341S|MATN2_uc010mbi.1_Silent_p.S174S	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	341	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CTGATGGCTCCTACCTTTGCC	0.418000														29			9		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					40			9		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078209	111078209	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:111078209G>A	uc004epl.1	-	6	2755	c.1836C>T	c.(1834-1836)tcC>tcT	p.S612S	TRPC5_uc004epm.1_Silent_p.S612S	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	612					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCACTACCAGGGAGATGACAT	0.418000														102			71		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87060865	87060865	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:87060865G>T	uc003uiv.1	-	14	1824	c.1748C>A	c.(1747-1749)aCc>aAc	p.T583N	ABCB4_uc003uiw.1_Missense_Mutation_p.T583N|ABCB4_uc003uix.1_Missense_Mutation_p.T583N	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	583	ABC transporter 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CACAATGGTGGTCCGGCCTTC	0.473000														81			8		0.000157383	0.00015943	1	1	0
KCNMB1	3779	broad.mit.edu	37	5	169805786	169805786	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:169805786G>A	uc003maq.1	-	3	898	c.498C>T	c.(496-498)ttC>ttT	p.F166F	KCNIP1_uc003map.3_Intron	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1 (KCNMB1), mRNA.	166					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CGGTCAGCAGGAAGGTGGGCC	0.607000														40			14		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189898825	189898825	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:189898825C>T	uc002uqk.3	-	53	4746	c.4471G>A	c.(4471-4473)Gtt>Att	p.V1491I	COL5A2_uc010frx.3_Missense_Mutation_p.V1067I	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1491	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G1490G(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAATTTCAACGCCGAATTCC	0.473000														50			4		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73821101	73821101	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:73821101G>A	uc011dyh.2	+	6	1447	c.1100G>A	c.(1099-1101)aGg>aAg	p.R367K	KCNQ5_uc003pgj.4_Missense_Mutation_p.R367K|KCNQ5_uc011dyi.2_Missense_Mutation_p.R367K|KCNQ5_uc010kat.3_Missense_Mutation_p.R367K|KCNQ5_uc003pgk.3_Missense_Mutation_p.R367K|KCNQ5_uc011dyj.2_Missense_Mutation_p.R367K|KCNQ5_uc011dyk.2_Missense_Mutation_p.R126K	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	367					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GAGAAAAGAAGGAACCCAGCT	0.408000														49			18		0	0	1	0	0
AAGAB	79719	broad.mit.edu	37	15	67528372	67528372	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:67528372G>A	uc002aqk.4	-	3	501	c.396C>T	c.(394-396)atC>atT	p.I132I	AAGAB_uc010uju.2_Silent_p.I23I	NM_024666	NP_078942	Q6PD74	AAGAB_HUMAN	Homo sapiens alpha- and gamma-adaptin binding protein (AAGAB), mRNA.	132			I -> L (in dbSNP:rs7173826).		protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGCCATGTTTGATGCACCATT	0.343000														41			14		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42264381	42264381	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:42264381G>A	uc001uyj.3	-	32	3967	c.3897C>T	c.(3895-3897)atC>atT	p.I1299I		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1299						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)		CCTCAGATTCGATGTGTGCAG	0.403000														47			5		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128867249	128867249	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:128867249T>G	uc002tps.3	+	4	628	c.450T>G	c.(448-450)ttT>ttG	p.F150L	UGGT1_uc010fme.1_Missense_Mutation_p.F25L|UGGT1_uc002tpr.3_Missense_Mutation_p.F126L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	150					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTAATTCGTTTTTTTCAGTGC	0.373000														59			9		0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:149639635A>T	uc011mxu.2	+	2	2025	c.1715A>T	c.(1714-1716)cAg>cTg	p.Q572L	MAMLD1_uc011mxt.1_Missense_Mutation_p.Q559L|MAMLD1_uc004fee.2_Missense_Mutation_p.Q597L|MAMLD1_uc011mxv.2_Missense_Mutation_p.Q572L|MAMLD1_uc011mxw.2_Missense_Mutation_p.Q524L	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	597					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607000														48			3		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955855	35955855	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:35955855C>T	uc003jjv.2	-	5	1380	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.G396E|UGT3A1_uc011cor.2_Missense_Mutation_p.G362E	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	396						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)			GACCATGTTTCCATGCTGGTC	0.478000														59			12		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226829796	226829796	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:226829796G>A	uc010pvo.2	-	4	2617	c.2277C>T	c.(2275-2277)gcC>gcT	p.A759A		NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	759							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTTCTTCCGGGCCTTCGTGA	0.647000														121			67		0	0	1	0	0
LOC442459	442459	broad.mit.edu	37	X	98975299	98975299	+	RNA	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:98975299G>A	uc011mrd.1	-	7		c.1044C>T								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		TTTGTTTTCCGATAGAGTTTT	0.438000														13			20		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11513721	11513721	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:11513721C>T	uc002gne.3	+	2	691	c.623C>T	c.(622-624)tCt>tTt	p.S208F	DNAH9_uc002gnd.1_Missense_Mutation_p.S208F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	208	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)		AGCTTGGATTCTATAGATAAG	0.433000														26			11		0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132688134	132688134	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:132688134G>A	uc001ukc.4	-	6	1295	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	GALNT9_uc009zyr.3_Silent_p.A167A|GALNT9_uc001ukb.3_Silent_p.A250A|GALNT9_uc001uka.3_Silent_p.A27A	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.	393					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)		CGTTGCGCTTGGCATAGTAGT	0.627000														44			24		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139691909	139691909	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:139691909C>T	uc003yvd.3	-	39	3470	c.3023G>A	c.(3022-3024)gGa>gAa	p.G1008E	COL22A1_uc011ljo.2_Intron	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1008	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)			TCTGACTTTTCCGCAAGCAGC	0.418000										HNSCC(7;0.00092)				70			13		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826784	46826784	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:46826784C>T	uc003oyo.3	-	16	3145	c.2856G>A	c.(2854-2856)acG>acA	p.T952T	GPR116_uc011dwj.1_Silent_p.T507T|GPR116_uc011dwk.1_Silent_p.T381T|GPR116_uc003oyp.3_Silent_p.T810T|GPR116_uc003oyq.3_Silent_p.T952T|GPR116_uc010jzi.1_Silent_p.T624T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T952A(2)|p.T952M(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGACACACTTCGTTTCGCCGC	0.483000														62			9		0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7195347	7195347	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:7195347G>A	uc002gfq.2	-	2	424	c.367C>T	c.(367-369)Cag>Tag	p.Q123*		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	123	CSD.|Required for cytoplasmic retention (By similarity).				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GCTCTTACCTGGTGAACAAAG	0.527000														45			16		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90012538	90012538	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:90012538C>T	uc003kju.3	+	42	9535	c.9439C>T	c.(9439-9441)Cga>Tga	p.R3147*	GPR98_uc003kjt.3_Nonsense_Mutation_p.R853*|GPR98_uc003kjv.3_Nonsense_Mutation_p.R747*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3147	Calx-beta 22.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.R3147Q(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAGGTGTTCGATTCAAGGT	0.328000														22			7		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487923	63487924	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:63487923_63487924CC>TT	uc001nxq.3	+	2	2136_2137	c.1949_1950CC>TT	c.(1948-1950)tcc>tTT	p.S650F	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.S538F|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.S631F|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	650					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GATGATTCCTCCCCAGAGGACC	0.351000														27			7		0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64023076	64023076	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:64023076C>T	uc009ypi.3	+	6	712	c.585C>T	c.(583-585)ctC>ctT	p.L195L	PLCB3_uc009ypg.2_Silent_p.L195L|PLCB3_uc009yph.2_Silent_p.L128L	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	195					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCTGTGGCCTCAAATTCAACC	0.647000														38			5		0	0	1	0	0
BMF	90427	broad.mit.edu	37	15	40398134	40398134	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:40398134G>A	uc001zkv.3	-	1	240	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F	BMF_uc001zkt.3_Missense_Mutation_p.L52F|BMF_uc001zku.3_Missense_Mutation_p.L52F|BMF_uc001zkw.3_Missense_Mutation_p.L52F	NM_033503	NP_277038	Q96LC9	BMF_HUMAN	Homo sapiens Bcl2 modifying factor (BMF), transcript variant 2, mRNA.	52					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding	p.P51fs*38(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CAGTGGGTGAGAGGGAAGAGC	0.642000														32			13		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136569980	136569980	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:136569980G>A	uc002tuu.1	-	6	2265	c.2254C>T	c.(2254-2256)Ctt>Ttt	p.L752F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	752	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)		TTCCCGGCAAGGTATATTGGA	0.458000														54			24		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129337	152129337	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:152129337G>A	uc001ezs.1	-	2	303	c.238C>T	c.(238-240)Cag>Tag	p.Q80*		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	80	EF-hand 2.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGGACCAACTGGAACACCAAC	0.463000														130			15		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148613	34148613	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:34148613C>T	uc004ddg.3	-	0	1835	c.1783G>A	c.(1783-1785)Gtt>Att	p.V595I		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	595										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGTCAGAAACGCACTCTTTT	0.453000														11			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179398154	179398154	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:179398154C>T	uc021vsy.1	-	306	95709	c.95484G>A	c.(95482-95484)tgG>tgA	p.W31828*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W25523*|TTN_uc021vta.1_Nonsense_Mutation_p.W25456*|TTN_uc021vtb.1_Nonsense_Mutation_p.W25331*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32755	Fibronectin type-III 131.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTTTCTCCCATTTTAATG	0.468000														33			13		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21250989	21250989	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:21250989C>T	uc009yid.3	+	14	1775	c.1622C>T	c.(1621-1623)aCc>aTc	p.T541I	NELL1_uc010rdp.2_Missense_Mutation_p.T273I|NELL1_uc001mqe.3_Missense_Mutation_p.T513I|NELL1_uc001mqf.3_Missense_Mutation_p.T513I|NELL1_uc010rdo.2_Missense_Mutation_p.T456I	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	513	EGF-like 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.T513N(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGAACGGGACCATCTGCAGA	0.577000														28			5		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130475993	130475993	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:130475993G>A	uc003qbw.3	-	8	1328	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SAMD3_uc003qbx.3_Missense_Mutation_p.P334S	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	334										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)		TTCAAGAAAGGAAACAGTTTA	0.323000														24			11		0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340365	29340365	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:29340365G>A	uc002kxa.2	-	0	479	c.260C>T	c.(259-261)cCa>cTa	p.P87L		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	87					transport	integral to membrane|mitochondrial inner membrane											CTGCATCAATGGGGGAAGGAT	0.478000														56			22		0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44585982	44585982	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:44585982G>A	uc002lco.3	+	4	484	c.290G>A	c.(289-291)aGa>aAa	p.R97K	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	169						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CATATATCAAGAATCCGTAAA	0.443000														94			33		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46305285	46305285	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:46305285G>A	uc002xto.3	-	9	1663	c.1333C>T	c.(1333-1335)Ctg>Ttg	p.L445L	SULF2_uc002xtr.3_Silent_p.L445L|SULF2_uc002xtq.3_Silent_p.L445L	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	445					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CGCTGACACAGGTCCTTCACA	0.602000														5			3		0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	39980086	39980086	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:39980086G>A	uc001rmb.2	-	6	2086	c.1660C>T	c.(1660-1662)Ctt>Ttt	p.L554F		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	554	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGACTTCCAAGAGACATATAT	0.393000														36			9		0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693277	45693277	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:45693277G>A	uc001wwf.3	-	10	2972	c.2513C>T	c.(2512-2514)tCc>tTc	p.S838F		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	838					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTCTTTGACGGAAGGTCTAGC	0.358000														32			15		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188321	152188321	+	Silent	SNP	A	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:152188321A>G	uc001ezt.1	-	2	5860	c.5784T>C	c.(5782-5784)tcT>tcC	p.S1928S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1928					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACGGGAGCCAGACCCATGCT	0.577000														759			15		0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72987747	72987748	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:72987747_72987748GG>AA	uc003tyh.3	-	3	634_635	c.500_501CC>TT	c.(499-501)acc>aTT	p.T167I	TBL2_uc011kex.2_Missense_Mutation_p.T131I|TBL2_uc010lbg.3_Missense_Mutation_p.T72I|TBL2_uc003tyi.3_Missense_Mutation_p.T2I|TBL2_uc011key.2_Missense_Mutation_p.T38I	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	167										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCTCCCGCTTGGTCATCTTGAA	0.564000														60			33		0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42264480	42264480	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:42264480A>T	uc003cky.3	+	15	2329	c.2113A>T	c.(2113-2115)Aaa>Taa	p.K705*	TRAK1_uc011azi.2_Nonsense_Mutation_p.K684*	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	705					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CAGCCACTTGAAATCCACGCC	0.547000														40			21		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294201	31294201	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:31294201G>T	uc021sia.1	-	26	5067	c.4753C>A	c.(4753-4755)Cca>Aca	p.P1585T	TRPM1_uc010azy.3_Missense_Mutation_p.P1453T|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.P1568T|TRPM1_uc001zfm.3_Missense_Mutation_p.P1546T	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1546					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGAGAGATGGGAATCCCAAA	0.433000														90			36		8.73648e-17	9.03814e-17	1	1	0
MAGEH1	28986	broad.mit.edu	37	X	55479047	55479047	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:55479047C>T	uc004dum.3	+	0	510	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	Homo sapiens melanoma antigen family H, 1 (MAGEH1), mRNA.	80	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						CTTCAGTGCCCCGGAGCAATT	0.562000														7			16		0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44691374	44691374	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:44691374T>G	uc003gww.4	+	9	1357	c.1150T>G	c.(1150-1152)Tcc>Gcc	p.S384A	GUF1_uc010ifz.1_Non-coding_Transcript	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	Homo sapiens GUF1 GTPase homolog (S. cerevisiae) (GUF1), mRNA.	384					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTAAATGATTCCAGTGTGAC	0.398000														46			16		0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202911260	202911260	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:202911260C>A	uc001gyq.4	-	6	1159	c.892G>T	c.(892-894)Ggc>Tgc	p.G298C	ADIPOR1_uc010pqd.2_Missense_Mutation_p.G222C|ADIPOR1_uc001gyr.4_Missense_Mutation_p.G97C|ADIPOR1_uc001gys.4_Missense_Mutation_p.G298C	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	298					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCCATCTGGCCCACTGTGGTG	0.532000														51			5		1.024e-07	1.04274e-07	1	1	0
AGPAT1	10554	broad.mit.edu	37	6	32139098	32139098	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:32139098C>T	uc003oae.3	-	1	511	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	EGFL8_uc003nzy.2_Non-coding_Transcript|AGPAT1_uc011dpk.2_Silent_p.A52A|AGPAT1_uc003oag.3_Silent_p.A52A|AGPAT1_uc003oah.3_Missense_Mutation_p.R59Q|AGPAT1_uc003oai.1_Missense_Mutation_p.R59Q|AGPAT1_uc011dpl.2_5'UTR	NM_006411	NP_116130	Q99943	PLCA_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA.	59					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GTTGCGTCCTCGCACGGCACA	0.562000														84			19		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123937	12123937	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:12123937C>T	uc003nac.3	+	3	4088	c.3909C>T	c.(3907-3909)tcC>tcT	p.S1303S	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1303					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.S1303F(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCACTCTCTCCAGGAGTCTAA	0.453000														33			19		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44268882	44268883	+	Splice_Site	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:44268882_44268883CC>TT	uc010xcy.1	-	5	988	c.420_splice	c.e5-1	p.K140_splice	ST8SIA5_uc002lci.1_Intron|ST8SIA5_uc002lcj.1_Splice_Site_p.K104_splice|ST8SIA5_uc010xcz.1_Splice_Site_p.K73_splice	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	104					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						ACAGAGTAGACCTGCCAGGCAG	0.584000														30			5		0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100626688	100626688	+	Splice_Site	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:100626688C>T	uc010nno.2	-	4	576	c.343_splice	c.e4-1	p.R115_splice	BTK_uc004ehg.2_Splice_Site_p.R81_splice|BTK_uc010nnn.2_Splice_Site_p.R81_splice|BTK_uc004ehi.3_Splice_Site_p.R81_splice	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	81	PH.		S -> F (in XLA).		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						TTCACCTCTTCTCTGTAATGA	0.383000									Agammaglobulinemia, X-linked					18			26		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184105217	184105217	+	Silent	SNP	C	T	T	rs144610754		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:184105217C>T	uc003fov.3	+	18	2649	c.2403C>T	c.(2401-2403)ccC>ccT	p.P801P	CHRD_uc003fow.3_Silent_p.P431P|CHRD_uc003fox.3_Silent_p.P801P|CHRD_uc003foy.3_Silent_p.P431P|CHRD_uc010hyc.3_Silent_p.P391P|CHRD_uc011brr.2_Silent_p.P343P	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	801	VWFC 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.P801P(2)|p.P801L(1)		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)			GGTGGCACCCCGTTGTGCCCC	0.592000														29			14		0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67767143	67767143	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:67767143C>T	uc001omw.1	-	3	480	c.400G>A	c.(400-402)Gga>Aga	p.G134R		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	134					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											CACTTCGTTCCAAAAAACCTG	0.602000														10			4		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106691941	106691941	+	RNA	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:106691941C>T	uc021ser.1	-	1156		c.25052G>A								Parts of antibodies, mostly variable regions.																		GACCAGGCCTCCCCCAGACTC	0.567000														81			12		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48655766	48655766	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:48655766G>A	uc002irk.1	+	8	2514	c.2142G>A	c.(2140-2142)cgG>cgA	p.R714R	CACNA1G_uc002iri.1_Silent_p.R714R|CACNA1G_uc002irj.1_Silent_p.R714R|CACNA1G_uc002irl.1_Silent_p.R714R|CACNA1G_uc002irm.1_Silent_p.R714R|CACNA1G_uc002irn.1_Silent_p.R714R|CACNA1G_uc002iro.1_Silent_p.R714R|CACNA1G_uc002irp.1_Silent_p.R714R|CACNA1G_uc002irq.1_Silent_p.R714R|CACNA1G_uc002irr.1_Silent_p.R714R|CACNA1G_uc002irs.1_Silent_p.R714R|CACNA1G_uc002irt.1_Silent_p.R714R|CACNA1G_uc002iru.1_Silent_p.R714R|CACNA1G_uc002irv.1_Silent_p.R714R|CACNA1G_uc002irw.1_Silent_p.R714R|CACNA1G_uc002irx.1_Silent_p.R627R|CACNA1G_uc002iry.1_Silent_p.R627R|CACNA1G_uc002isg.1_Silent_p.R627R|CACNA1G_uc002ish.1_Silent_p.R627R|CACNA1G_uc002isi.1_Silent_p.R627R|CACNA1G_uc002irz.1_Silent_p.R627R|CACNA1G_uc002isa.1_Silent_p.R627R|CACNA1G_uc002isd.1_Silent_p.R627R|CACNA1G_uc002isb.1_Silent_p.R627R|CACNA1G_uc002isc.1_Silent_p.R627R|CACNA1G_uc002ise.1_Silent_p.R627R|CACNA1G_uc002isf.1_Silent_p.R627R	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	714					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)	GGCGGCAACGGAGCCTGGGCC	0.607000														61			27		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54649535	54649535	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:54649535C>T	uc002qdj.2	+	7	1009	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	CNOT3_uc010yel.2_Silent_p.L229L|CNOT3_uc002qdi.3_Silent_p.L142L|CNOT3_uc002qdk.2_Silent_p.L229L|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	229					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTACGATGACCTGGACCTCGA	0.567000														31			16		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43855557	43855557	+	Splice_Site	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:43855557C>T	uc001cjk.2	+	1	1	c.-2609_splice	c.e1-1		MED8_uc001cje.1_5'Flank|MED8_uc001cjg.4_5'Flank|MED8_uc001cjf.4_5'Flank|SZT2_uc001cjh.3_Splice_Site|SZT2_uc001cji.1_Splice_Site|SZT2_uc009vws.1_Splice_Site	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTTCCGGTTCCTGCTGGGTG	0.627000														13			8		0	0	1	0	0
TP53I3	9540	broad.mit.edu	37	2	24300518	24300518	+	Silent	SNP	G	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:24300518G>T	uc002rey.2	-	5	1420	c.930C>A	c.(928-930)atC>atA	p.I310I	LOC375190_uc002rew.3_Intron|SF3B14_uc002rev.3_5'Flank|SF3B14_uc010eyb.3_5'Flank|TP53I3_uc002rex.2_Missense_Mutation_p.P245T|TP53I3_uc002rez.2_Silent_p.I310I|TP53I3_uc010ykk.2_Silent_p.I221I	NM_147184	NP_671713	Q53FA7	QORX_HUMAN	Homo sapiens tumor protein p53 inducible protein 3 (TP53I3), transcript variant 2, mRNA.	310					NADP metabolic process|induction of apoptosis by oxidative stress		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	p.E309K(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCTCCTGGATTTCGGTCA	0.572000														45			10		4.68919e-08	4.78125e-08	1	1	0
APBA3	9546	broad.mit.edu	37	19	3759811	3759811	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:3759811G>A	uc002lyp.1	-	1	629	c.452C>T	c.(451-453)tCc>tTc	p.S151F	MRPL54_uc002lyq.4_5'Flank	NM_004886	NP_004877	O96018	APBA3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA.	151					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		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)		CCATTCTGGGGAGTCAGAATC	0.637000														28			10		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262099	15262099	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:15262099G>A	uc001rcs.3	-	3	685	c.545C>T	c.(544-546)tCc>tTc	p.S182F	RERG_uc001rct.3_Missense_Mutation_p.S182F|RERG_uc010shu.2_Missense_Mutation_p.S163F	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	182					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ATGCGTGGTGGAGCTGCGTCG	0.532000														106			25		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349916	233349916	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:233349916C>T	uc002vsv.2	-	2	1053	c.848G>A	c.(847-849)aGt>aAt	p.S283N	ECEL1_uc010fya.1_Missense_Mutation_p.S283N|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	283					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACCTTCTCACTGTCCTCATC	0.667000														23			8		0	0	1	0	0
HOXC12	3228	broad.mit.edu	37	12	54348980	54348980	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:54348980G>A	uc010soq.2	+	0	267	c.267G>A	c.(265-267)gaG>gaA	p.E89E		NM_173860	NP_776272	P31275	HXC12_HUMAN	Homo sapiens homeobox C12 (HOXC12), mRNA.	89					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CGCGCGTGGAGGACGGCAAGG	0.751000														14			5		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15639266	15639266	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:15639266C>T	uc001ioc.1	-	20	2151	c.2151G>A	c.(2149-2151)atG>atA	p.M717I	ITGA8_uc010qcb.1_Missense_Mutation_p.M702I	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	717					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTACATTTTCCATCTTGTACT	0.453000														37			15		0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56041171	56041171	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:56041171C>T	uc010ygc.2	-	3	991	c.976G>A	c.(976-978)Ggg>Agg	p.G326R		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	326	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CAGGGGCGCCCCAGGTGCTCC	0.731000														36			11		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839057	15839057	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:15839057C>T	uc002nbm.2	+	0	224	c.204C>T	c.(202-204)gtC>gtT	p.V68V		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCCTCTCAGTCTCCGAGATCC	0.632000														78			18		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238050087	238050087	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:238050087G>A	uc001hym.3	-	5	1110	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	275	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R275G(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATGCTGTCACGAGTGACAGAG	0.488000														45			32		0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121106693	121106693	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:121106693G>A	uc002tmn.2	+	1	513	c.467G>A	c.(466-468)cGg>cAg	p.R156Q		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	156					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	p.R156Q(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GCCTCCTCCCGGGTCCGCCTA	0.557000														71			5		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183522121	183522121	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:183522121C>T	uc003ivd.1	+	2	631	c.556C>T	c.(556-558)Ccg>Tcg	p.P186S	ODZ3_uc021xux.1_Missense_Mutation_p.P93S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	186	Teneurin N-terminal.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCAGCCCTTGCCGCCTTCCCA	0.443000														135			4		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:84628811C>T	uc003uic.3	-	16	2319	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_uc010led.3_Missense_Mutation_p.R760Q|SEMA3D_uc003uib.3_Missense_Mutation_p.R399Q	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	760	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R760Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453000														41			16		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212989568	212989568	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:212989568G>T	uc002veg.1	-	1	241	c.143C>A	c.(142-144)gCc>gAc	p.A48D	ERBB4_uc002veh.1_Missense_Mutation_p.A48D|ERBB4_uc010zji.1_Missense_Mutation_p.A48D|ERBB4_uc010zjj.1_Missense_Mutation_p.A48D|ERBB4_uc010fut.1_Missense_Mutation_p.A48D	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.	48					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	p.R47L(1)		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)		CTTGCGCAAGGCTCGGTACTG	0.488000										TSP Lung(8;0.080)				29			5		0.217242	0.217242	1	1	0
JPH2	57158	broad.mit.edu	37	20	42788274	42788274	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:42788274C>T	uc002xli.1	-	1	2026	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	385	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGCAATCTCGGCCTTCTGG	0.682000														16			9		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26507084	26507084	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:26507084G>A	uc001bln.4	+	1	251	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.E65K|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	65	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCGGGGTGGAACAGCTCCA	0.657000														43			22		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76631515	76631515	+	RNA	SNP	G	A	A	rs61737189	by1000genomes	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:76631515G>A	uc011kgn.1	+	3		c.656G>A			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.									p.A7A(1)									TGTCCGCAGCGTCTGGATACA	0.617000														17			8		0	0	1	0	0
NFYC	4802	broad.mit.edu	37	1	41236337	41236337	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:41236337C>T	uc001cge.3	+	9	1222	c.1214C>T	c.(1213-1215)cCt>cTt	p.P405L	NFYC_uc001cfx.4_Intron|NFYC_uc009vwd.3_Intron|NFYC_uc001cfz.3_Intron|NFYC_uc010ojn.2_Intron|NFYC_uc001cfy.4_Intron|NFYC_uc001cgc.3_Intron|NFYC_uc001cgb.3_Missense_Mutation_p.P386L	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	Homo sapiens nuclear transcription factor Y, gamma (NFYC), transcript variant 1, mRNA.	405					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CTGCATGCCCCTCTCCCAGGG	0.637000														39			10		0	0	1	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66498492	66498492	+	RNA	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:66498492C>T	uc011dxw.2	+	0		c.721C>T								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		AGCTGTATGGCATCAAAACCC	0.458000														42			11		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099508	142099508	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:142099508G>A	uc003vyz.1	-	1	294	c.294C>T	c.(292-294)atC>atT	p.I98I	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_Non-coding_Transcript|TCRB_uc022ane.1_Silent_p.I98I					SubName: Full=Uncharacterized protein;																		GTGTGCGCTGGATCTTCAGAG	0.532000														69			6		0	0	1	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384058	62384058	+	Missense_Mutation	SNP	G	C	C	rs149098151		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:62384058G>C	uc001ntw.3	-	3	1057	c.829C>G	c.(829-831)Cgg>Ggg	p.R277G	B3GAT3_uc001ntx.3_Non-coding_Transcript|B3GAT3_uc009ynz.3_Missense_Mutation_p.R270G|B3GAT3_uc010rlz.2_Missense_Mutation_p.R277G	NM_012200	NP_036332	O94766	B3GA3_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3), mRNA.	277					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	p.R277L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						AGGTGGCCCCGGGGAGCGGTG	0.612000														47			9		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7722072	7722072	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:7722072G>A	uc002giu.1	+	68	10662	c.10648G>A	c.(10648-10650)Gag>Aag	p.E3550K	DNAH2_uc010cnm.1_Missense_Mutation_p.E488K	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3550	AAA 5 (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)				GAAGCTCAAGGAGCTGGAGGA	0.627000														51			15		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798333	38798333	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:38798333C>T	uc003ciq.3	-	8	1122	c.1122G>A	c.(1120-1122)atG>atA	p.M374I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	374					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAAAAAAGATCATATAGATTT	0.473000														83			10		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52942858	52942858	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:52942858C>T	uc002lga.3	-	10	1147	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	TCF4_uc021ukg.1_Missense_Mutation_p.E101K|TCF4_uc021ukh.1_Missense_Mutation_p.E101K|TCF4_uc002lfw.4_Missense_Mutation_p.E101K|TCF4_uc010xdu.1_Missense_Mutation_p.E131K|TCF4_uc010xdv.1_Missense_Mutation_p.E131K|TCF4_uc021uki.1_Missense_Mutation_p.E190K|TCF4_uc002lfx.2_Missense_Mutation_p.E190K|TCF4_uc010xdw.1_Missense_Mutation_p.E131K|TCF4_uc002lfy.2_Missense_Mutation_p.E219K|TCF4_uc010xdx.1_Missense_Mutation_p.E237K|TCF4_uc021ukj.1_Missense_Mutation_p.E201K|TCF4_uc021ukk.1_Missense_Mutation_p.E201K|TCF4_uc021ukl.1_Missense_Mutation_p.E259K|TCF4_uc002lfz.2_Missense_Mutation_p.E261K|TCF4_uc010dph.1_Missense_Mutation_p.E261K|TCF4_uc010dpi.3_Missense_Mutation_p.E267K|TCF4_uc010xdy.1_Missense_Mutation_p.E237K|TCF4_uc002lgc.4_Missense_Mutation_p.E182K|TCF4_uc021ukm.1_3'UTR	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	261					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ACCAAACGTTCATGTGGATGC	0.488000														96			29		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785615	1785616	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:1785615_1785616GG>AA	uc002ltw.3	-	25	3479_3480	c.3245_3246CC>TT	c.(3244-3246)gcc>gTT	p.A1082V	ATP8B3_uc002ltv.3_Missense_Mutation_p.A1045V|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1082					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGGGCGATGGCTTGGACGAA	0.614000														33			7		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9417752	9417752	+	Missense_Mutation	SNP	G	A	A	rs112585987		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:9417752G>A	uc021wam.1	+	25	2696	c.2681G>A	c.(2680-2682)aGa>aAa	p.R894K	PLCB4_uc010gbw.1_Missense_Mutation_p.R894K|PLCB4_uc010gbx.3_Missense_Mutation_p.R906K|PLCB4_uc021wal.1_Missense_Mutation_p.R894K|PLCB4_uc002wnh.3_Missense_Mutation_p.R741K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	894					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCTGAGCTCAGACCAACCACC	0.532000														27			3		0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145631424	145631425	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:145631424_145631425CC>TA	uc003lnz.4	+	8	1596_1597	c.1430_1431CC>TA	c.(1429-1431)acc>aTA	p.T477I	RBM27_uc003lny.2_Intron	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	477					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGCCCTACCCCTCTGGTTC	0.550000														128			51		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41630625	41630625	+	Splice_Site	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:41630625C>T	uc002opu.1	+	8	1021	c.965_splice	c.e8-1	p.A322_splice	CYP2F1_uc010xvv.1_Splice_Site_p.P303_splice|CYP2F1_uc002opv.1_Splice_Site	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	322					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTCTCCAGCCCGCGTGCAGG	0.682000														27			8		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52265336	52265336	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:52265336C>T	uc002lfq.1	+	2	639	c.593C>T	c.(592-594)tCc>tTc	p.S198F		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	198	Thr-rich.					integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		GCCACCACTTCCACAGAACCT	0.453000														70			17		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212530049	212530049	+	Splice_Site	SNP	C	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:212530049C>A	uc002veg.1	-	15	1969	c.1871_splice	c.e15+1	p.G624_splice	ERBB4_uc002veh.1_Splice_Site_p.G624_splice|ERBB4_uc010zji.1_Splice_Site_p.G624_splice|ERBB4_uc010zjj.1_Splice_Site_p.G624_splice|ERBB4_uc010fut.1_Splice_Site_p.G624_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.	624	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)		AATGCTTACCCTTGGGTGCAG	0.463000										TSP Lung(8;0.080)				32			8		0.000274275	0.000277121	1	1	0
FAM49A	81553	broad.mit.edu	37	2	16769383	16769383	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:16769383C>T	uc010exm.2	-	1	153	c.5G>A	c.(4-6)gGa>gAa	p.G2E	FAM49A_uc002rck.2_Missense_Mutation_p.G2E	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	2						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GAGCAGGTTTCCCATCCCAGC	0.378000														19			10		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55700682	55700682	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:55700682G>A	uc010qhy.1	-	24	3586	c.3191C>T	c.(3190-3192)tCt>tTt	p.S1064F	PCDH15_uc010qhq.2_Missense_Mutation_p.S1064F|PCDH15_uc010qhr.2_Missense_Mutation_p.S1059F|PCDH15_uc021pqv.1_Missense_Mutation_p.S1059F|PCDH15_uc021pqw.1_Missense_Mutation_p.S1071F|PCDH15_uc010qht.2_Missense_Mutation_p.S1066F|PCDH15_uc021pqx.1_Missense_Mutation_p.S1059F|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.S1059F|PCDH15_uc021pqz.1_Missense_Mutation_p.S1037F|PCDH15_uc010qhv.1_Missense_Mutation_p.S1059F|PCDH15_uc010qhw.1_Missense_Mutation_p.S1022F|PCDH15_uc010qhx.1_Missense_Mutation_p.S988F|PCDH15_uc010qhz.1_Missense_Mutation_p.S1059F|PCDH15_uc010qia.1_Missense_Mutation_p.S1037F|PCDH15_uc001jju.1_Missense_Mutation_p.S1059F|PCDH15_uc010qib.1_Missense_Mutation_p.S1037F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1059	Cadherin 10.				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)				GGCAGCAGCAGAAATTACACC	0.368000										HNSCC(58;0.16)				16			3		0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926251	67926252	+	Missense_Mutation	DNP	GG	AA	AA	rs140037372		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:67926251_67926252GG>AA	uc001onm.1	-	10	1817_1818	c.1561_1562CC>TT	c.(1561-1563)cct>TTt	p.P521F	SUV420H1_uc009yse.1_Missense_Mutation_p.P107F|SUV420H1_uc001onn.1_Missense_Mutation_p.P349F|SUV420H1_uc009ysf.2_Missense_Mutation_p.P281F	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACCTCTCACAGGATTCTGTCTG	0.554000														71			12		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564905	58564906	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:58564905_58564906CC>TT	uc002qrc.1	+	5	960_961	c.713_714CC>TT	c.(712-714)ccc>cTT	p.P238L		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	238					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ATCTCGAGCCCCAAGGGTCCAA	0.614000														41			11		0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	35996873	35996873	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:35996873G>A	uc002nzm.4	-	7	1237	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S	DMKN_uc002nzj.3_Missense_Mutation_p.P26S|DMKN_uc002nzl.4_Missense_Mutation_p.P65S|DMKN_uc002nzk.4_5'UTR|DMKN_uc002nzo.4_Missense_Mutation_p.P341S|DMKN_uc002nzn.4_Missense_Mutation_p.P311S|DMKN_uc002nzu.2_5'UTR|DMKN_uc002nzv.2_5'UTR|DMKN_uc002nzw.2_Missense_Mutation_p.P8S|DMKN_uc002nzq.2_Missense_Mutation_p.P28S|DMKN_uc002nzp.2_Missense_Mutation_p.P46S|DMKN_uc002nzr.2_Missense_Mutation_p.P8S|DMKN_uc002nzs.2_5'UTR|DMKN_uc002nzt.2_5'UTR|DMKN_uc010xsw.2_Missense_Mutation_p.P48S|DMKN_uc010xsv.1_5'UTR|DMKN_uc002nzx.4_Non-coding_Transcript|DMKN_uc002nzy.4_Non-coding_Transcript|DMKN_uc002nzz.3_Missense_Mutation_p.P402S|DMKN_uc002oaa.4_Missense_Mutation_p.P364S|DMKN_uc002oab.4_Missense_Mutation_p.P352S|DMKN_uc002oac.4_Missense_Mutation_p.P335S	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	352						extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AACATCCCAGGAGACGTCTCA	0.527000														94			23		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62193515	62193516	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:62193515_62193516GG>AA	uc002yfm.2	-	10	7330_7331	c.6438_6439CC>TT	c.(6436-6441)atcccc>atTTcc	p.P2147S	PRIC285_uc002yfl.1_Missense_Mutation_p.P1578S	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2147					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGGCCTCCGGGGATGTTGTAGG	0.658000														9			7		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10398498	10398498	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:10398498C>T	uc002mnr.2	+	1	650	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	ICAM4_uc002mns.2_Silent_p.P227P|ICAM4_uc002mnt.2_Silent_p.P227P|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCTCGGCACCCATTACACTGA	0.637000														99			23		0	0	1	0	0
CLLU1OS	574016	broad.mit.edu	37	12	92814806	92814806	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:92814806C>T	uc001tcb.1	-	2	288	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	Homo sapiens chronic lymphocytic leukemia up-regulated 1 opposite strand (CLLU1OS), mRNA.	96										large_intestine(1)|lung(7)	8						TCCTGTGCTTCCTTCTTCCCA	0.433000														193			75		0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45175893	45175893	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:45175893C>T	uc002ozo.4	+	1	561	c.81C>T	c.(79-81)ctC>ctT	p.L27L	CEACAM19_uc002ozp.4_Silent_p.L27L	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	27						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				TCTGGATGCTCCAAGGCTCCC	0.562000														44			14		0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74097455	74097455	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:74097455G>A	uc002jqs.3	-	3	409	c.314C>T	c.(313-315)cCc>cTc	p.P105L	EXOC7_uc010dgv.2_Missense_Mutation_p.P52L|EXOC7_uc010wsv.2_Missense_Mutation_p.P64L|EXOC7_uc010wsw.2_Missense_Mutation_p.P105L|EXOC7_uc002jqq.3_Missense_Mutation_p.P105L|EXOC7_uc010wsx.2_Missense_Mutation_p.P105L|EXOC7_uc002jqr.3_Missense_Mutation_p.P105L|EXOC7_uc002jqu.2_Missense_Mutation_p.P105L|EXOC7_uc002jqv.2_Missense_Mutation_p.P105L	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	105					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CCTACCTGTGGGGCTGGGAAA	0.512000														58			26		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69978066	69978066	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:69978066C>T	uc001opj.3	+	10	1444	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.P352L|ANO1_uc010rqk.2_Missense_Mutation_p.P115L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	380					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ACCATGTGCCCGCTTTGCGAC	0.602000														14			4		0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74771116	74771116	+	Silent	SNP	T	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:74771116T>G	uc002jta.2	+	11	1885	c.912T>G	c.(910-912)cgT>cgG	p.R304R	MFSD11_uc002jtd.4_Silent_p.R304R|MFSD11_uc002jtb.3_Silent_p.R304R|MFSD11_uc002jtc.3_Silent_p.R304R|MFSD11_uc002jte.3_Silent_p.R304R|MFSD11_uc010dhb.3_Silent_p.R252R|MFSD11_uc010dha.3_Silent_p.R252R	NM_001242534	NP_001229463	O43934	MFS11_HUMAN	Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 3, mRNA.	304						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						AGAACAATCGTTTTGGTAGAA	0.473000														129			60		0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38374047	38374047	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:38374047G>A	uc003aun.1	-	2	802	c.524C>T	c.(523-525)cCc>cTc	p.P175L	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P175L	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	175						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCGCCGCCTGGGCTGGTACTT	0.667000														5			4		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67249754	67249754	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:67249754G>A	uc002jif.2	-	32	5593	c.4375C>T	c.(4375-4377)Cca>Tca	p.P1459S	ABCA5_uc002jib.2_Missense_Mutation_p.P425S|ABCA5_uc002jic.2_Missense_Mutation_p.P682S|ABCA5_uc002jid.2_Missense_Mutation_p.P376S|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.P1459S	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1459	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCTGTAGATGGTTCATCTAGC	0.378000														46			16		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185878583	185878583	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:185878583G>A	uc001grq.1	+	4	965	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	246					response to stimulus|visual perception	basement membrane	calcium ion binding	p.E246V(1)		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						CAGCCTGAAAGAGGTCACTGT	0.383000														40			12		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196973942	196973942	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:196973942T>G	uc001gts.4	+	8	1610	c.1482T>G	c.(1480-1482)aaT>aaG	p.N494K		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	494	Sushi 8.				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						CATGCAGAAATAAACAGTGGT	0.388000														41			18		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30706277	30706277	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:30706277A>T	uc003xil.3	-	0	257	c.257T>A	c.(256-258)aTa>aAa	p.I86K	TEX15_uc011lbc.2_Missense_Mutation_p.I473K	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	86										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)		TGTCGATTTTATTTCTGAATT	0.393000														49			18		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70557415	70557416	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:70557415_70557416GG>AA	uc002ezc.3	-	0	42_43	c.31_32CC>TT	c.(31-33)cct>TTt	p.P11F	COG4_uc002ezd.3_Missense_Mutation_p.P11F|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR|SF3B3_uc002ezf.3_5'Flank	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	7	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.P11H(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CAGCTTCGGAGGCGAATCAAGG	0.649000														34			9		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34649405	34649405	+	Missense_Mutation	SNP	A	G	G	rs144668484		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:34649405A>G	uc010ucc.2	+	7	3578	c.3196A>G	c.(3196-3198)Agt>Ggt	p.S1066G	C15orf55_uc010ucd.2_Missense_Mutation_p.S1056G|C15orf55_uc001zif.3_Missense_Mutation_p.S1038G	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	1038						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)		GCATCCCCTCAGTCCTCACCA	0.532000			T	"""BRD3, BRD4"""	lethal midline carcinoma									35			10		0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52520388	52520388	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:52520388G>A	uc002pyj.3	-	4	865	c.463C>T	c.(463-465)Cct>Tct	p.P155S	ZNF614_uc002pyi.4_Missense_Mutation_p.P155S|ZNF614_uc010epj.3_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AACTCAACAGGGTTATTTATT	0.318000														23			11		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2928815	2928815	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:2928815C>T	uc003bpc.3	+	9	1186	c.847C>T	c.(847-849)Cct>Tct	p.P283S	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.P283S|CNTN4_uc003bpd.1_Missense_Mutation_p.P283S	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	283	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)		TCTTGAGATCCCTAATTTTCA	0.418000														34			3		0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704986	23704986	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:23704986C>A	uc003zpu.3	-	3	692	c.417G>T	c.(415-417)aaG>aaT	p.K139N	ELAVL2_uc003zps.3_Missense_Mutation_p.K139N|ELAVL2_uc003zpt.3_Missense_Mutation_p.K139N|ELAVL2_uc003zpv.3_Missense_Mutation_p.K139N|ELAVL2_uc003zpw.3_Missense_Mutation_p.K139N	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	139	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTTCCAACTCCTTCTGGGTCA	0.423000														38			23		1.10513e-12	1.13276e-12	1	1	0
MCF2	4168	broad.mit.edu	37	X	138679654	138679654	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:138679654C>T	uc011mwn.1	-	20	2461	c.2455G>A	c.(2455-2457)Gat>Aat	p.D819N	MCF2_uc004fav.3_Missense_Mutation_p.D690N|MCF2_uc004fau.3_Missense_Mutation_p.D674N|MCF2_uc010nsh.2_Missense_Mutation_p.D674N|MCF2_uc011mwm.2_Missense_Mutation_p.D635N|MCF2_uc011mwl.2_Missense_Mutation_p.D651N|MCF2_uc011mwo.1_Missense_Mutation_p.D750N|MCF2_uc004faw.2_Missense_Mutation_p.D734N|Mir_548_uc022cfd.1_5'Flank	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	674					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TGCATAGAATCATTAACTGAC	0.373000														20			13		0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459978	107459978	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:107459978G>A	uc002tdq.3	-	1	575	c.456C>T	c.(454-456)tcC>tcT	p.S152S	ST6GAL2_uc002tdr.3_Silent_p.S152S|ST6GAL2_uc002tds.3_Silent_p.S152S	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	152					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCTCCCCGGGGGAAGGGAATC	0.612000														162			17		0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	853268	853268	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:853268C>T	uc002lqb.3	+	2	269	c.231C>T	c.(229-231)gtC>gtT	p.V77V		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	77	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCAGAAACGTCCGCGCGGTGC	0.741000														12			5		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686568	54686568	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:54686568G>A	uc009znk.3	-	1	1222	c.712C>T	c.(712-714)Cct>Tct	p.P238S	NFE2_uc001sfq.3_Missense_Mutation_p.P238S|NFE2_uc001sfr.4_Missense_Mutation_p.P238S|NFE2_uc009znl.3_Missense_Mutation_p.P238S	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	238					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TTGTCCGTAGGAAAAGGAATC	0.582000														32			6		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398203	77398203	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:77398203G>A	uc002ffc.4	-	4	1273	c.854C>T	c.(853-855)tCa>tTa	p.S285L	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.	285					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S285*(2)|p.R284K(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTTTCCAGCTGATCTTCTGGG	0.483000														44			8		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21125066	21125066	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:21125066G>A	uc002kum.4	-	11	2079	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	NPC1_uc010xaz.2_Missense_Mutation_p.S335F|NPC1_uc010xba.1_Missense_Mutation_p.S447F	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	602					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGCAGTGAAGGAAATGGTCAG	0.318000														35			9		0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	54060312	54060312	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:54060312G>A	uc001cvr.1	-	2	831	c.264C>T	c.(262-264)tcC>tcT	p.S88S		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	88					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGCGGATGATGGAGGTGACGT	0.687000														34			14		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73932595	73932596	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:73932595_73932596CC>TT	uc003uaq.3	+	4	941_942	c.548_549CC>TT	c.(547-549)ccc>cTT	p.P183L	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.P215L|GTF2IRD1_uc003uap.3_Missense_Mutation_p.P183L|GTF2IRD1_uc003uar.1_Missense_Mutation_p.P183L	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	183						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGTATGACCCCAAGGCCCTCA	0.683000														29			5		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270451	84270452	+	Nonsense_Mutation	DNP	GG	TA	TA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:84270451_84270452GG>TA	uc010voc.2	-	1	761_762	c.640_641CC>TA	c.(640-642)ccg>TAg	p.P214*	KCNG4_uc002fhu.1_Nonsense_Mutation_p.P214*	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	214						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						CCCGGACTGCGGGTTTTCCACC	0.678000														53			25		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11317043	11317043	+	Silent	SNP	G	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:11317043G>T	uc001asd.3	-	3	572	c.451C>A	c.(451-453)Cga>Aga	p.R151R		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	151					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						TCCAGGGCTCGCTTCACCTCA	0.572000														16			7		2.0095e-06	2.03828e-06	1	1	0
ANAPC5	51433	broad.mit.edu	37	12	121746388	121746388	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:121746388G>A	uc001uag.3	-	16	2285	c.2163C>T	c.(2161-2163)taC>taT	p.Y721Y	ANAPC5_uc010szu.2_Silent_p.Y387Y|ANAPC5_uc001uae.3_Silent_p.Y285Y|ANAPC5_uc010szv.2_Silent_p.Y323Y|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Silent_p.Y609Y	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	721					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGGGTATGGTAGAGTCTGG	0.542000														69			19		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50148380	50148380	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:50148380G>T	uc002poq.3	+	1	221	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	33					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)		TTCTCCTTCTGCCTTTATCCT	0.637000														22			3		0.004672	0.00470826	1	1	0
KBTBD3	143879	broad.mit.edu	37	11	105924856	105924856	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:105924856G>A	uc001pja.3	-	3	1200	c.560C>T	c.(559-561)tCc>tTc	p.S187F	KBTBD3_uc001pjb.3_Missense_Mutation_p.S187F|KBTBD3_uc009yxm.3_Missense_Mutation_p.S108F	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	183	BACK.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GAAATCACTGGATTTAAATAA	0.318000														18			7		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32209435	32209435	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:32209435C>T	uc003tco.2	-	2	306	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_001191058	NP_001177987	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA.	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.Q90H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCTATCCAGCTGTGGCAATT	0.483000														42			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433511	179433511	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:179433511C>T	uc021vsy.1	-	274	69869	c.69644G>A	c.(69643-69645)cGg>cAg	p.R23215Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R16910Q|TTN_uc021vta.1_Missense_Mutation_p.R16843Q|TTN_uc021vtb.1_Missense_Mutation_p.R16718Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24142	Fibronectin type-III 68.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAAGGGACCGAGGATCACT	0.413000														37			8		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175086161	175086161	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:175086161G>A	uc001gkl.1	+	9	2319	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	736	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGCCACCATTGACAGGTATGT	0.587000														63			27		0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101826401	101826401	+	RNA	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:101826401C>T	uc004ejf.1	+	16		c.3395C>T								Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						TAAAAGGAGCCCTTCGATGTC	0.517000														4			7		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32053956	32053956	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:32053956G>A	uc003jhl.3	+	9	2255	c.1867G>A	c.(1867-1869)Gga>Aga	p.G623R	PDZD2_uc003jhm.3_Missense_Mutation_p.G623R|PDZD2_uc011cnx.1_Missense_Mutation_p.G449R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	623	PDZ 3.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTTCCCAAATGGATCAGCTGC	0.483000														43			8		0	0	1	0	0
ANG	283	broad.mit.edu	37	14	21161793	21161793	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:21161793G>A	uc021rok.1	+	0	70	c.70G>A	c.(70-72)Gct>Act	p.A24T	ANG_uc001vxw.4_Missense_Mutation_p.A24T|RNASE4_uc001vxy.4_Intron|RNASE4_uc001vxx.4_Non-coding_Transcript|ANG_uc001vxz.3_Missense_Mutation_p.A24T|RNASE4_uc001vya.3_Intron	NM_001145	NP_001136	P03950	ANGI_HUMAN	Homo sapiens angiogenin, ribonuclease, RNase A family, 5 (ANG), transcript variant 1, mRNA.	24					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|rRNA transcription|response to hormone stimulus|response to hypoxia	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|rRNA binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		ACCGACCCTGGCTCAGGATAA	0.567000														41			21		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15210680	15210680	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:15210680C>T	uc002wou.3	+	5	777	c.513C>T	c.(511-513)ctC>ctT	p.L171L	MACROD2_uc002wot.3_Silent_p.L171L|MACROD2_uc002woz.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	171	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTCTGAAGCTCGTGAAAGAAA	0.358000														26			8		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19490826	19490826	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:19490826C>T	uc002dgc.4	+	13	2992	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F	TMC5_uc010vaq.2_Missense_Mutation_p.S696F|TMC5_uc002dgb.4_Missense_Mutation_p.S748F|TMC5_uc010var.2_Missense_Mutation_p.S748F|TMC5_uc002dgd.1_Missense_Mutation_p.S502F|TMC5_uc002dge.4_Missense_Mutation_p.S502F|TMC5_uc002dgf.4_Missense_Mutation_p.S431F|TMC5_uc002dgg.4_Missense_Mutation_p.S389F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	748						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						TTAGTCAATTCCTTCCTGGGG	0.458000														115			42		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000423	56000423	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:56000423C>T	uc010rjc.2	-	0	239	c.239G>A	c.(238-240)gGa>gAa	p.G80E		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G80E(2)|p.M79R(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TCCTAAATTTCCCATGAGAGT	0.413000														29			13		0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	878385	878385	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:878385G>T	uc001abw.1	+	10	1591	c.1511G>T	c.(1510-1512)gGg>gTg	p.G504V	SAMD11_uc001abx.1_Missense_Mutation_p.G367V	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	504						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTTTTCCCAGGGTCCACACTG	0.682000														1			5		0.014758	0.014815	1	1	0
THSD7B	80731	broad.mit.edu	37	2	138169367	138169368	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:138169367_138169368GG>AA	uc002tva.1	+	12	2791_2792	c.2791_2792GG>AA	c.(2791-2793)ggc>AAc	p.G931N	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G821N	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)		ATGTGGAGAAGGCCTGCGCTTT	0.515000														42			19		0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56958729	56958729	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:56958729G>A	uc002adu.3	-	15	2075	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	ZNF280D_uc002adv.3_Missense_Mutation_p.R607C|ZNF280D_uc010bfq.3_Missense_Mutation_p.R620C|ZNF280D_uc002adw.1_Missense_Mutation_p.R648C|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		ATGCCCCGACGATACCTTAGG	0.313000														36			4		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26166122	26166122	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:26166122C>T	uc003abz.1	+	4	1808	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	MYO18B_uc003aca.1_Nonsense_Mutation_p.Q401*|MYO18B_uc010guy.1_Nonsense_Mutation_p.Q401*|MYO18B_uc010guz.1_Nonsense_Mutation_p.Q401*|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Nonsense_Mutation_p.Q33*	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	520						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTGGCTGGCTCAGAAGGATGG	0.517000														24			24		0	0	1	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42538870	42538870	+	Missense_Mutation	SNP	A	C	C	rs2982057	by1000genomes	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:42538870A>C	uc003bci.3	-	2	475	c.94T>G	c.(94-96)Tcg>Gcg	p.S32A	CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_Intron|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000														30			5		0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622857	64622857	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:64622857G>A	uc010rnq.1	-	4	1106	c.1059C>T	c.(1057-1059)taC>taT	p.Y353Y	EHD1_uc021qkz.1_Silent_p.Y22Y|EHD1_uc001obu.1_Silent_p.Y339Y|EHD1_uc001obv.1_Silent_p.Y339Y	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	339					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CAATCTTCTGGTAGATCTCTC	0.557000											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		49			12		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114476878	114476878	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:114476878G>C	uc004bfr.3	-	14	2205	c.2070C>G	c.(2068-2070)atC>atG	p.I690M	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.I651M|C9orf84_uc010mug.3_Missense_Mutation_p.I601M	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	690										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTGTTGTAGATATCTTTTG	0.348000														13			12		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720848	140720848	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:140720848C>T	uc003ljk.2	+	0	2495	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Silent_p.F770F|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	779					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGATTTTCCCCCAGCCCA	0.552000														79			47		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52960824	52960824	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:52960824C>T	uc001sap.1	-	8	1567	c.1519G>A	c.(1519-1521)Ggg>Agg	p.G507R		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	507	Tail.					keratin filament	structural molecule activity	p.R506*(1)		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)		AGGTCTCCCCCTCGCGCCTCT	0.667000														74			35		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853753	122853753	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:122853753G>A	uc003ieg.2	-	1	734	c.660C>T	c.(658-660)ttC>ttT	p.F220F	TRPC3_uc010inr.2_Silent_p.F147F|TRPC3_uc003ief.2_Silent_p.F147F|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	135					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CGTAAGCGTAGAAGTCGTCGT	0.622000														31			13		0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43427388	43427389	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:43427388_43427389CC>TT	uc001mxi.3	+	12	1718_1719	c.1648_1649CC>TT	c.(1648-1650)cct>TTt	p.P550F	TTC17_uc001mxh.3_Missense_Mutation_p.P550F|TTC17_uc010rfj.2_Missense_Mutation_p.P493F|TTC17_uc001mxj.3_Missense_Mutation_p.P320F	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	550							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GGCCCAAACCCCTGACTGTTCC	0.421000														57			17		0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111590639	111590639	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:111590639C>T	uc001plt.3	+	9	1525	c.1407C>T	c.(1405-1407)gcC>gcT	p.A469A		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	469					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.H468Y(1)		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						CCGCTCATGCCTTTGAGGCAT	0.587000														35			6		0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10463611	10463611	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:10463611G>A	uc002moc.4	-	21	3569	c.3191C>T	c.(3190-3192)cCc>cTc	p.P1064L	TYK2_uc010dxe.3_Missense_Mutation_p.P879L	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	1064	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGAACACGGGGCTGTCCCC	0.632000														53			4		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117307056	117307056	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:117307056G>A	uc003vjd.3	+	26	4469	c.4337G>A	c.(4336-4338)aGg>aAg	p.R1446K	CFTR_uc011knq.2_Missense_Mutation_p.R852K	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1446					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)	CCCTCCGACAGGGTGAAGCTC	0.532000									Cystic Fibrosis					28			7		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26620532	26620532	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:26620532G>A	uc001mqt.4	+	15	1803	c.1658G>A	c.(1657-1659)gGa>gAa	p.G553E	ANO3_uc010rdr.2_Missense_Mutation_p.G537E|ANO3_uc010rds.2_Missense_Mutation_p.G392E|ANO3_uc010rdt.2_Missense_Mutation_p.G407E	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	553						chloride channel complex	chloride channel activity	p.S552S(1)		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						TCTGTCTCAGGAATATTCTTC	0.368000														21			6		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103908354	103908354	+	Missense_Mutation	SNP	G	A	A	rs115891405	by1000genomes	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:103908354G>A	uc001phr.2	+	0	1047	c.804G>A	c.(802-804)atG>atA	p.M268I	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	268					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGACCATTATGAGCCAGGCTT	0.527000														83			17		0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112299604	112299604	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:112299604G>A	uc003dze.3	+	5	885	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	Homo sapiens solute carrier family 35, member A5 (SLC35A5), mRNA.	214						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						GACTTTTCCTGAAGCTAAATG	0.423000														40			4		0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869134	52869134	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:52869134C>T	uc002pyx.4	+	5	909	c.503C>T	c.(502-504)tCt>tTt	p.S168F	ZNF610_uc002pyy.4_Missense_Mutation_p.S168F|ZNF610_uc002pyz.4_Missense_Mutation_p.S125F|ZNF610_uc002pza.3_Missense_Mutation_p.S168F	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CAAAAAATTTCTTCTAGTTTC	0.323000														58			15		0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184368027	184368027	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:184368027C>T	uc003ivp.1	+	2	1352	c.1190C>T	c.(1189-1191)gCt>gTt	p.A397V	CDKN2AIP_uc003ivq.1_Missense_Mutation_p.A142V	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	Homo sapiens CDKN2A interacting protein (CDKN2AIP), mRNA.	397	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TCCCAGTTGGCTTCTAAGAGT	0.458000														34			7		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124288315	124288315	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:124288315A>T	uc001uft.4	+	15	2393	c.2368A>T	c.(2368-2370)Ata>Tta	p.I790L	DNAH10_uc010tav.1_Missense_Mutation_p.I332L|DNAH10_uc010taw.1_Missense_Mutation_p.I275L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	790	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTGACATTAATAGAGGCCAT	0.408000														33			5		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416734	145416734	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:145416734C>T	uc001eni.2	+	3	1404	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	HFE2_uc001enk.2_Missense_Mutation_p.S247F|HFE2_uc001enj.2_Missense_Mutation_p.S134F|HFE2_uc001enl.2_Missense_Mutation_p.S134F|HFE2_uc021oux.1_Missense_Mutation_p.S134F	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	360					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACTTCCATTCCTGTGTCTTT	0.517000														24			5		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753570	76753570	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:76753570G>A	uc002lmt.3	+	1	1579	c.1579G>A	c.(1579-1581)Ggg>Agg	p.G527R	SALL3_uc010dra.3_Missense_Mutation_p.G134R	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V526M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACGTCCGTGGGGCTGCAACT	0.741000														8			4		0	0	1	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10224938	10224938	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:10224938C>T	uc002mnc.3	+	1	850	c.649C>T	c.(649-651)Ccg>Tcg	p.P217S	PPAN-P2RY11_uc002mna.3_Missense_Mutation_p.P637S|PPAN-P2RY11_uc010xla.2_3'UTR	NM_002566	NP_002557	Q9NQ55	SSF1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 11 (P2RY11), mRNA.	0	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CTGCGGCCTGCCGCTGCTGCT	0.701000														78			17		0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42875398	42875398	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:42875398C>T	uc001uys.2	+	7	2691	c.2516C>T	c.(2515-2517)cCt>cTt	p.P839L		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	839					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATTTGTTTACCTTCAGAACAC	0.338000														28			5		0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30857429	30857429	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:30857429C>T	uc003ahy.3	-	10	1038	c.949G>A	c.(949-951)Gga>Aga	p.G317R	SEC14L3_uc003ahz.3_Missense_Mutation_p.G240R|SEC14L3_uc003aia.3_Missense_Mutation_p.G258R|SEC14L3_uc003aib.3_Missense_Mutation_p.G258R	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	317	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGGAAAACTCCGAAGCCGATG	0.602000														29			21		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212683	26212683	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:26212683C>T	uc022buc.1	+	0	720	c.720C>T	c.(718-720)acC>acT	p.T240T	MAGEB6_uc004dbr.3_Silent_p.T240T	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	240	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCAACAGAACCTCCCAACATT	0.498000														33			14		0	0	1	0	0
APRT	353	broad.mit.edu	37	16	88876198	88876198	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:88876198G>A	uc002flv.3	-	4	486	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	APRT_uc002flw.3_Intron	NM_000485	NP_000476	P07741	APT_HUMAN	Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA.	151					purine ribonucleoside salvage	cytosol|nucleus	AMP binding|adenine phosphoribosyltransferase activity|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	ACGCACTCCAGGACCTCAGCC	0.632000														44			5		0	0	1	0	0
ZNF167	55888	broad.mit.edu	37	3	44611958	44611958	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:44611958C>T	uc003cnj.3	+	5	1772	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	ZNF167_uc003cnk.3_Intron|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Silent_p.S452S|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Silent_p.S301S	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	452					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GGCACAGCTCCCATCTCATTC	0.478000														16			9		0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	33991859	33991859	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:33991859G>A	uc002nur.4	-	3	511	c.378C>T	c.(376-378)gtC>gtT	p.V126V	PEPD_uc010xrs.2_Intron|PEPD_uc010xrr.2_Silent_p.V126V	NM_000285	NP_000276	P12955	PEPD_HUMAN	Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.	126					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CTACGTACTGGACGTCGTCCA	0.552000														88			40		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6264003	6264003	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:6264003C>T	uc002kmz.4	-	4	322	c.162G>A	c.(160-162)tgG>tgA	p.W54*	L3MBTL4_uc002kmy.4_Nonsense_Mutation_p.W54*|L3MBTL4_uc010dkt.3_Nonsense_Mutation_p.W54*	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	54					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AGTACCACTCCCAAGACCATG	0.433000														49			3		0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132399018	132399019	+	Silent	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:132399018_132399019GG>AA	uc010sck.2	-	2	512_513	c.462_463CC>TT	c.(460-465)accctg>acTTtg	p.154_155TL>TL	OPCML_uc001qgu.3_Silent_p.147_148TL>TL|OPCML_uc001qgs.3_Silent_p.154_155TL>TL|OPCML_uc001qgt.3_Silent_p.154_155TL>TL|OPCML_uc010scl.2_Silent_p.113_114TL>TL	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	154	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.T154T(2)|p.T147T(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGACACAGCAGGGTCACACTGC	0.470000														36			5		0	0	1	0	0
TRIM13	10206	broad.mit.edu	37	13	50586194	50586194	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:50586194G>A	uc001vdp.1	+	3	545	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|TRIM13_uc001vdq.1_Missense_Mutation_p.G40R|TRIM13_uc001vdr.1_Missense_Mutation_p.G40R|TRIM13_uc001vds.1_Missense_Mutation_p.G40R|TRIM13_uc021rjq.1_Missense_Mutation_p.G40R	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	40					ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TATCTTAGAAGGGAGTGTGCG	0.438000														42			16		0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57670630	57670630	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:57670630C>T	uc002qoa.1	-	2	242	c.197G>A	c.(196-198)cGa>cAa	p.R66Q		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	66						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R66*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CCTAGCTCTTCGATTCTGAAA	0.423000														50			16		0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33248017	33248017	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:33248017G>A	uc001bvy.1	-	8	1818	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S	YARS_uc001bvw.1_5'Flank|YARS_uc001bvx.1_5'UTR	NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	344					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TGCTTTGAGGGATCTGGGTAG	0.502000														64			5		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107911634	107911634	+	Silent	SNP	C	T	T	rs104886391		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:107911634C>T	uc022ccg.1	+	40	3892	c.3690C>T	c.(3688-3690)ttC>ttT	p.F1230F	COL4A5_uc004enz.1_Silent_p.F1230F	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1230	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTCACGGTTTCCCTGGTGTGC	0.587000									Alport syndrome with Diffuse Leiomyomatosis					10			9		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43479502	43479502	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:43479502A>G	uc002lbm.3	-	26	4776	c.4676T>C	c.(4675-4677)gTt>gCt	p.V1559A	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.V113A|EPG5_uc002lbn.2_Missense_Mutation_p.V434A	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1559					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						ATCCAGAGCAACCTGCTGAGA	0.458000														32			12		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52263740	52263740	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:52263740G>A	uc003ddd.3	-	7	970	c.819C>T	c.(817-819)tcC>tcT	p.S273S	TLR9_uc003ddb.3_Silent_p.S77S|TLR9_uc003ddc.1_5'UTR	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					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)	TCTTGCAGCTGGAGTAGAGCA	0.622000														45			9		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61623078	61623078	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:61623078G>A	uc002jay.3	+	13	2880	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	KCNH6_uc010wpl.2_Missense_Mutation_p.E775K|KCNH6_uc010wpm.2_Missense_Mutation_p.E898K|KCNH6_uc002jaz.1_Missense_Mutation_p.E845K	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	934					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ACCATCCTCAGAACAGGAACA	0.577000														73			15		0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104819285	104819285	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:104819285G>A	uc001pid.1	-	5	973	c.900C>T	c.(898-900)ttC>ttT	p.F300F	CASP4_uc001pib.1_Silent_p.F244F|CASP4_uc009yxg.1_Silent_p.F209F	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	300					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGAAAGCAATGAAGTCCTTCT	0.468000														18			8		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102069868	102069868	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:102069868G>A	uc003pqp.4	+	1	453	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	GRIK2_uc021zdj.1_Missense_Mutation_p.E54K|GRIK2_uc003pqn.3_Missense_Mutation_p.E54K|GRIK2_uc010kcw.3_Missense_Mutation_p.E54K|GRIK2_uc003pqo.4_Missense_Mutation_p.E54K|GRIK2_uc021zdk.1_Missense_Mutation_p.E54K|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	54					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E54K(3)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GGGAGCTGAGGAACTTGCATT	0.348000														35			5		0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108568024	108568024	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:108568024G>A	uc003dxi.1	+	4	370	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	TRAT1_uc010hpx.1_Missense_Mutation_p.E39K	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	76					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ACCAATGGATGAAAATTGCTA	0.343000														37			8		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155067	100155067	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:100155067C>T	uc001dsg.3	+	6	1694	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	417					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CAATGATTTTCATGGGGTATC	0.443000														25			15		0	0	1	0	0
TIPRL	261726	broad.mit.edu	37	1	168153290	168153290	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:168153290G>A	uc001gfg.3	+	1	400	c.255G>A	c.(253-255)gtG>gtA	p.V85V	TIPRL_uc001gff.3_Silent_p.V85V	NM_152902	NP_690866	O75663	TIPRL_HUMAN	Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.	85					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TGCTTAAAGTGGCCTGTGCTG	0.383000														39			6		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250784	24250784	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:24250784G>A	uc003xdz.2	+	2	437	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_5'UTR	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	73					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GGAAAGGTATGAACCTGAAGT	0.289000														26			5		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48382302	48382302	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:48382302C>T	uc002phr.2	-	3	698	c.558G>A	c.(556-558)gaG>gaA	p.E186E		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	186					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CCTGTTTCAGCTCCTCATAAC	0.473000														102			23		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21231412	21231412	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:21231412G>A	uc001bec.3	-	9	1804	c.1548C>T	c.(1546-1548)acC>acT	p.T516T	EIF4G3_uc010odi.2_Silent_p.T120T|EIF4G3_uc010odj.2_Silent_p.T515T|EIF4G3_uc009vpz.3_Silent_p.T236T|EIF4G3_uc001bef.3_Silent_p.T515T|EIF4G3_uc001bee.3_Silent_p.T522T	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	516					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)		CAGTGGTTCGGGTCCGATCTT	0.413000														64			8		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515201	56515201	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:56515201C>T	uc002qmj.3	+	1	182	c.182C>T	c.(181-183)tCc>tTc	p.S61F	NLRP5_uc002qmi.3_Missense_Mutation_p.S61F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	61	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)		CTCACCTTTTCCAGCTACGGG	0.433000														54			14		0	0	1	0	0
MIXL1	83881	broad.mit.edu	37	1	226411643	226411643	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:226411643C>T	uc010pvm.2	+	0	261	c.261C>T	c.(259-261)cgC>cgT	p.R87R		NM_031944	NP_114150	Q9H2W2	MIXL1_HUMAN	Homo sapiens Mix paired-like homeobox (MIXL1), mRNA.	87					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CGTCGCAGCGCCGCAAGCGCA	0.776000														22			3		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854774	88854774	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:88854774C>T	uc010kbz.3	-	1	350	c.220G>A	c.(220-222)Gac>Aac	p.D74N	CNR1_uc011dzr.2_Missense_Mutation_p.D74N|CNR1_uc011dzs.2_Missense_Mutation_p.D74N|CNR1_uc003pmq.4_Missense_Mutation_p.D74N|CNR1_uc011dzt.2_Missense_Mutation_p.D74N|CNR1_uc010kca.3_Missense_Mutation_p.D41N|CNR1_uc021zco.1_Missense_Mutation_p.D74N	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	74					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TTCACCTGGTCTGCTGGGACT	0.473000														25			11		0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159092156	159092156	+	Silent	SNP	G	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:159092156G>C	uc003ipq.4	-	1	779	c.372C>G	c.(370-372)acC>acG	p.T124T	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Silent_p.T124T|FAM198B_uc003ipr.4_Silent_p.T124T|FAM198B_uc003ips.3_Silent_p.T124T|AK126266_uc003ipt.1_Non-coding_Transcript	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	124						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGGGCTTCACGGTGCCACGGA	0.627000														55			15		0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133336016	133336016	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:133336016G>A	uc003eps.3	-	21	3879	c.3747C>T	c.(3745-3747)caC>caT	p.H1249H		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1249					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTCTCTAGGGTGCGGAGCCA	0.468000								Other conserved DNA damage response genes						30			7		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32136376	32136376	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:32136376C>T	uc001rks.3	+	3	2901	c.2487C>T	c.(2485-2487)acC>acT	p.T829T		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	829										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			CAACATCAACCAAGATTTTTC	0.368000														42			12		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958764	111958765	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:111958764_111958765GG>AA	uc003dyu.3	-	11	1590_1591	c.1368_1369CC>TT	c.(1366-1371)gccctt>gcTTtt	p.L457F	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.L409F	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	457					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TCAAATTTAAGGGCAGAGGCTG	0.356000														23			6		0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124012337	124012337	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:124012337C>T	uc001pzu.3	+	15	2121	c.1912C>T	c.(1912-1914)Cct>Tct	p.P638S	VWA5A_uc001pzt.3_Missense_Mutation_p.P638S	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	638										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TGACCGTCCTCCTTCTGCATC	0.478000														50			19		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42606724	42606724	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:42606724G>A	uc003bcj.1	-	0	4722	c.4588C>T	c.(4588-4590)Cca>Tca	p.P1530S	TCF20_uc003bck.1_Missense_Mutation_p.P1530S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.P1529H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TATCCCTTTGGAGGGAAACCC	0.527000														40			23		0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	8	8095944	8095944	+	RNA	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:8095944C>T	uc011kwt.2	+	7		c.1139C>T			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Intron			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						CTCGGCAGCTCCAGTCAGGCC	0.652000														1			2		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946505	144946505	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:144946505G>A	uc003zaa.1	-	0	930	c.917C>T	c.(916-918)aCc>aTc	p.T306I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	306						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGTGCTCGGTGGCAGCCTG	0.682000														79			16		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95206159	95206159	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:95206159C>T	uc003htb.4	+	22	3141	c.2964C>T	c.(2962-2964)tcC>tcT	p.S988S	SMARCAD1_uc003htc.4_Silent_p.S986S|SMARCAD1_uc003htd.4_Silent_p.S988S|SMARCAD1_uc010ila.3_Silent_p.S851S|SMARCAD1_uc011cdw.2_Silent_p.S556S	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	986	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTGAAGAATCCATGCTAAAAA	0.289000														29			4		0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158412723	158412723	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:158412723G>A	uc002tzk.4	-	2	669	c.426C>T	c.(424-426)tcC>tcT	p.S142S	ACVR1C_uc002tzl.4_Intron|ACVR1C_uc010fof.3_Intron|ACVR1C_uc010foe.3_Silent_p.S92S	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	142					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TCTTCCTGTAGGAGCACTGTC	0.483000														15			8		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904204	21904204	+	RNA	SNP	G	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:21904204G>T	uc002gza.2	+	0		c.143G>T								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctgccaggacggtgttcgggt	0.677000														42			3		0.00909568	0.00914263	1	1	0
ZNF317	57693	broad.mit.edu	37	19	9272036	9272036	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:9272036C>T	uc002mku.3	+	6	2020	c.1715C>T	c.(1714-1716)tCc>tTc	p.S572F	ZNF317_uc002mkv.3_Missense_Mutation_p.S431F|ZNF317_uc002mkw.3_Missense_Mutation_p.S540F|ZNF317_uc002mkx.3_Missense_Mutation_p.S487F|ZNF317_uc002mky.3_Missense_Mutation_p.S455F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GACCACTCATCCCTCAGGAGC	0.567000														40			15		0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62370125	62370125	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:62370125T>G	uc002ygp.4	+	5	1709	c.760T>G	c.(760-762)Tat>Gat	p.Y254D	ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_3'UTR|SLC2A4RG_uc002ygq.3_5'Flank|SLC2A4RG_uc002ygr.3_5'Flank|SLC2A4RG_uc011abj.2_5'Flank|SLC2A4RG_uc002ygs.3_5'Flank	NM_017806	NP_060276	Q8N5A5	ZGPAT_HUMAN	Homo sapiens Lck interacting transmembrane adaptor 1 (LIME1), mRNA.	306					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GGAAAACGTGTATGAGAGCAT	0.701000														27			9		0	0	1	0	0
FOXI2	399823	broad.mit.edu	37	10	129537091	129537091	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:129537091G>A	uc009yas.2	+	1	819	c.819G>A	c.(817-819)ggG>ggA	p.G273G	BC132944_uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	Homo sapiens forkhead box I2 (FOXI2), mRNA.	273					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				TTTCTTTCGGGAGGCGGCCAC	0.706000														9			4		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35770194	35770194	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:35770194G>A	uc021rid.1	+	30	5655	c.5121G>A	c.(5119-5121)ttG>ttA	p.L1707L	NBEA_uc021ric.1_Silent_p.L1704L|NBEA_uc010abi.3_Silent_p.L363L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1707						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)		TATCCACTTTGTCATCCGAAG	0.433000														38			6		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	400004	400005	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:400004_400005GG>AA	uc021qbk.1	+	6	1385_1386	c.1356_1357GG>AA	c.(1354-1359)aaggac>aaAAac	p.D453N	PKP3_uc001lpc.3_Missense_Mutation_p.D438N	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	438					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCACCTGAAGGACCGCCTGGC	0.658000														12			3		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750624	140750624	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:140750624C>T	uc003ljw.2	+	0	663	c.663C>T	c.(661-663)tcC>tcT	p.S221S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Silent_p.S221S	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	221	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)			GCGAGCCCTCCAGAAGCTGTA	0.542000														54			18		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703870	4703870	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:4703870G>A	uc001lzk.2	-	1	316	c.72C>T	c.(70-72)ttC>ttT	p.F24F	OR51E2_uc021qcr.1_Silent_p.F24F	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGCCAACCCAGAAATGGGCTT	0.512000														24			5		0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59940566	59940566	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:59940566C>T	uc010rla.2	-	6	1143	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	MS4A6A_uc001noq.3_Missense_Mutation_p.G161E|MS4A6A_uc009ymv.3_Missense_Mutation_p.E196K|MS4A6A_uc001not.3_Missense_Mutation_p.E196K|MS4A6A_uc010rlb.2_Missense_Mutation_p.E151K	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	196						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						AGGCAGAATTCCAGCAGAGTG	0.498000														95			31		0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681053	142681053	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:142681053T>C	uc003evg.3	-	0	1126	c.1126A>G	c.(1126-1128)Aaa>Gaa	p.K376E	PAQR9_uc003evf.1_Non-coding_Transcript	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	Homo sapiens progestin and adipoQ receptor family member IX (PAQR9), mRNA.	376						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCTCACTTTTTACTGCAGAAT	0.488000														110			19		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	19999087	19999087	+	Splice_Site	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:19999087C>T	uc001umd.3	-	20	1677	c.1466_splice	c.e20+1	p.R489_splice	TPTE2_uc009zzk.3_Splice_Site|TPTE2_uc009zzl.3_Splice_Site_p.R378_splice|TPTE2_uc001ume.3_Splice_Site_p.R412_splice|TPTE2_uc009zzm.3_Splice_Site_p.R160_splice|TPTE2_uc010tcm.2_Splice_Site|TPTE2_uc010tcl.2_Splice_Site_p.R160_splice	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	489	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATATTCATACCTGTTATTTTG	0.279000														12			5		0	0	1	0	0
ACOT8	10005	broad.mit.edu	37	20	44472223	44472223	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:44472223G>A	uc002xqa.2	-	4	878	c.784C>T	c.(784-786)Cac>Tac	p.H262Y	ACOT8_uc010zxe.2_3'UTR|ACOT8_uc002xqc.2_3'UTR|ACOT8_uc010zxf.2_Missense_Mutation_p.H142Y	NM_005469	NP_005460	O14734	ACOT8_HUMAN	Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA.	262					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				AAGGGGGCGTGGAACCACATG	0.592000														19			10		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38138100	38138100	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:38138100G>A	uc003chp.1	+	14	2233	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N	DLEC1_uc003cho.1_Missense_Mutation_p.D738N|DLEC1_uc010hgv.1_Missense_Mutation_p.D738N|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	738					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTACTCTGTGGATGATGTGAT	0.517000														65			16		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107869502	107869502	+	Missense_Mutation	SNP	G	A	A	rs104886216		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:107869502G>A	uc022ccg.1	+	35	3371	c.3169G>A	c.(3169-3171)Gga>Aga	p.G1057R	COL4A5_uc004enz.1_Missense_Mutation_p.G1057R|COL4A5_uc004eob.1_Missense_Mutation_p.G665R	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1057	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGCTCCCCAGGATTACCTGG	0.448000									Alport syndrome with Diffuse Leiomyomatosis					17			23		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118523903	118523903	+	Silent	SNP	T	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:118523903T>C	uc001ehk.2	-	42	6062	c.5994A>G	c.(5992-5994)aaA>aaG	p.K1998K	SPAG17_uc021osr.1_Silent_p.K508K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1998						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCAGGAGATTTTGTTAAAT	0.398000														45			25		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237729900	237729900	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:237729900A>T	uc001hyl.1	+	27	3368	c.3248A>T	c.(3247-3249)gAa>gTa	p.E1083V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1083	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCACCGGGGAAAGGTTCCGA	0.527000														46			13		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94275871	94275871	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:94275871C>T	uc003kkx.2	-	4	1090	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	MCTP1_uc003kkv.2_Missense_Mutation_p.D143N|MCTP1_uc003kkw.2_Missense_Mutation_p.D143N|MCTP1_uc003kkz.2_Missense_Mutation_p.D25N	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	364					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TAATGAGGATCTTTCAGAGTA	0.383000														65			21		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23830533	23830533	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:23830533G>A	uc003sws.4	+	21	2795	c.2728G>A	c.(2728-2730)Gac>Aac	p.D910N	STK31_uc003swt.4_Missense_Mutation_p.D887N|STK31_uc011jze.2_Missense_Mutation_p.D910N|STK31_uc010kuq.3_Missense_Mutation_p.D887N|STK31_uc003swv.1_Missense_Mutation_p.D76N	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	910	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCAGGTTCAGACTTATATGC	0.353000														26			9		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683425	100683425	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:100683425C>T	uc003uxp.1	+	2	8781	c.8728C>T	c.(8728-8730)Cct>Tct	p.P2910S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2910	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCTTCTCCTACAACTGC	0.507000														195			56		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936885	21936885	+	RNA	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:21936885C>T	uc010tzj.1	-	0		c.3855G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ATAAGCCTTCCGTGTAACCAC	0.507000														108			10		0	0	1	0	0
ZNF764	92595	broad.mit.edu	37	16	30567174	30567174	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:30567174G>A	uc002dyq.3	-	2	707	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	ZNF764_uc002dyr.2_Silent_p.L189L	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	Homo sapiens zinc finger protein 764 (ZNF764), transcript variant 1, mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						TGCTCCACCAGTGTGGAGCGC	0.667000														18			8		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94316852	94316852	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:94316852C>T	uc011cdt.2	+	8	1598	c.1340C>T	c.(1339-1341)aCt>aTt	p.T447I	GRID2_uc011cdu.2_Missense_Mutation_p.T352I	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	447					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CGTGTAGTAACTGTTCTGGTA	0.383000														65			8		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47230774	47230774	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:47230774C>T	uc002pfm.3	-	8	1237	c.1204G>A	c.(1204-1206)Ggg>Agg	p.G402R	STRN4_uc002pfl.3_Missense_Mutation_p.G395R|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	395						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	p.G395R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTCACCTCCCCGCCCCCGATA	0.617000														23			3		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173043	126173043	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:126173043A>T	uc003vlr.2	-	7	2704	c.2393T>A	c.(2392-2394)aTc>aAc	p.I798N	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.I798N|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	798					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AAAGATGGGGATGAAAGCTAA	0.393000										HNSCC(24;0.065)				32			11		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023862	18023862	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:18023862C>T	uc001ban.3	+	28	3986	c.3827C>T	c.(3826-3828)cCc>cTc	p.P1276L	ARHGEF10L_uc001bao.3_Missense_Mutation_p.P1237L|ARHGEF10L_uc001bap.3_Missense_Mutation_p.P1232L|ARHGEF10L_uc001baq.3_Missense_Mutation_p.P1037L|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.P1049L|ARHGEF10L_uc001bar.3_Missense_Mutation_p.P979L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript|ARHGEF10L_uc001bas.3_Missense_Mutation_p.P300L	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1276					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGGCAGGTGCCCTTGATGCTA	0.677000														40			14		0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563587	75563587	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:75563587G>A	uc002fej.1	-	4	1035	c.714C>T	c.(712-714)tcC>tcT	p.S238S	CHST5_uc002fei.3_Silent_p.S232S|CHST5_uc021tlk.1_Silent_p.S232S	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	232					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CCGCCTCCCGGGAGCGCAGCA	0.706000														59			22		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55062969	55062969	+	RNA	SNP	T	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:55062969T>A	uc021qjb.1	-	2		c.669A>T			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		TATGGCACATTTTCTTCAGAT	0.443000														24			9		0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890950	32890950	+	Missense_Mutation	SNP	A	G	G	rs151263854	by1000genomes	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:32890950A>G	uc002edh.1	-	2	280	c.104T>C	c.(103-105)gTc>gCc	p.V35A	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		ATACACCCAGACCACCACCAC	0.637000														32			3		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18376911	18376911	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:18376911G>A	uc010ebn.2	-	2	1655	c.1439C>T	c.(1438-1440)tCa>tTa	p.S480L	KIAA1683_uc002nin.2_Missense_Mutation_p.S480L|KIAA1683_uc010xqe.1_Missense_Mutation_p.S434L	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	480						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCTCTGGGATGAAGTCTTGGA	0.612000														59			20		0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34485777	34485777	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:34485777A>T	uc001mvm.3	+	9	1410	c.1321A>T	c.(1321-1323)Act>Tct	p.T441S	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	441					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGATAACGTTACTCAGGTAAT	0.483000														69			12		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117666	117666	+	RNA	SNP	G	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrGL000205.1:117666G>C	uc002kgk.4	+	0		c.1044G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CGCGAGTTCAGAGCGTGGAGC	0.612000														22			3		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40042035	40042035	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:40042035G>A	uc002xka.1	-	34	7238	c.7060C>T	c.(7060-7062)Ccc>Tcc	p.P2354S	CHD6_uc002xjz.1_5'UTR	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2354					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCTTGCTGGGAATGGATTTC	0.592000														29			8		0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128040226	128040226	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:128040226G>A	uc011kol.1	-	5	648	c.542C>T	c.(541-543)cCa>cTa	p.P181L	IMPDH1_uc011kom.1_Missense_Mutation_p.P176L|IMPDH1_uc003vmt.2_Missense_Mutation_p.P156L|IMPDH1_uc003vmu.2_Missense_Mutation_p.P266L|IMPDH1_uc003vmx.2_Missense_Mutation_p.P189L|IMPDH1_uc003vmy.2_Missense_Mutation_p.P197L|IMPDH1_uc003vmw.2_Missense_Mutation_p.P256L|IMPDH1_uc011kon.1_Missense_Mutation_p.P233L|IMPDH1_uc003vmv.2_Missense_Mutation_p.P230L	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	181	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	TTCAATCCTTGGCGTCATCAC	0.562000														92			34		0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53476659	53476659	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:53476659G>A	uc002ehi.4	+	2	579	c.461G>A	c.(460-462)aGa>aAa	p.R154K	RBL2_uc010vgv.1_Missense_Mutation_p.R80K	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	154					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGATTAGAAAGAAACTTCACT	0.373000														25			7		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63995572	63995572	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:63995572G>A	uc003peh.3	-	2	284	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	LGSN_uc003pei.3_Missense_Mutation_p.R84C|LGSN_uc003pej.1_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	84					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)	AACTGGAGGCGATTTTTGGCC	0.433000														33			11		0	0	1	0	0
LOC442459	442459	broad.mit.edu	37	X	98974484	98974484	+	RNA	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:98974484C>T	uc011mrd.1	-	7		c.1859G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		GTCTTCAGCTCCTCTTCTGAA	0.468000														11			5		0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799018	16799018	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:16799018C>T	uc002nes.3	+	5	827	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	246						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTACATCTGCCCCGTGCTGTT	0.632000														298			85		0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27736695	27736695	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:27736695G>A	uc001bof.2	-	7	1055	c.830C>T	c.(829-831)cCa>cTa	p.P277L	WASF2_uc010ofl.2_Intron	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	277					G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GTTGTCCACTGGGTAACTAAA	0.493000														19			3		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121345544	121345544	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:121345544C>T	uc003eeg.2	+	3	2127	c.1917C>T	c.(1915-1917)atC>atT	p.I639I		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	639					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTCAACAGATCTGGCAGTTCA	0.438000														95			27		0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958248	61958248	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:61958248C>T	uc002jcl.1	-	3	402	c.340G>A	c.(340-342)Gag>Aag	p.E114K	GH2_uc002jcn.1_Missense_Mutation_p.E99K|GH2_uc002jco.1_Missense_Mutation_p.E114K|GH2_uc002jcm.1_Missense_Mutation_p.E114K	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	114						extracellular region	hormone activity	p.L113L(1)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGCACGGGCTCCAGCCATGAC	0.632000														60			10		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68248218	68248219	+	Missense_Mutation	DNP	GG	TA	TA	rs138543433	byFrequency	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:68248218_68248219GG>TA	uc001xka.2	-	21	4539_4540	c.4400_4401CC>TA	c.(4399-4401)ccc>cTA	p.P1467L	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P1467L	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1467					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)		CATCCTTCACGGGAAACAGGTA	0.500000														46			6		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841871	5841871	+	Silent	SNP	G	A	A	rs139425458		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:5841871G>A	uc010qzp.2	+	0	306	c.306G>A	c.(304-306)caG>caA	p.Q102Q	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTGGCCCAGATGTTTTTTG	0.517000														53			26		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102342683	102342683	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:102342683C>T	uc003knt.3	+	17	2355	c.1982C>T	c.(1981-1983)cCa>cTa	p.P661L	PAM_uc003knw.3_Missense_Mutation_p.P661L|PAM_uc003kns.3_Missense_Mutation_p.P554L|PAM_uc003knu.3_Missense_Mutation_p.P661L|PAM_uc011cuz.2_Missense_Mutation_p.P564L|PAM_uc003knv.3_Missense_Mutation_p.P661L|PAM_uc003knz.3_5'Flank	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	661	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CAGTTTTCACCAAGTGGAAAG	0.443000														25			10		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209961817	209961817	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:209961817G>A	uc001hhq.2	-	8	1656	c.1352C>T	c.(1351-1353)cCc>cTc	p.P451L	IRF6_uc010psm.2_Missense_Mutation_p.P356L	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	451					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)		GGGCTGCATGGGCTGCCAGCT	0.517000										HNSCC(57;0.16)				52			24		0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17654374	17654374	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:17654374C>T	uc021uqj.1	+	12	1719	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	FAM129C_uc021uqi.1_Silent_p.I527I|FAM129C_uc002ngy.4_Silent_p.I253I|FAM129C_uc010xpu.2_Silent_p.I253I|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Intron|FAM129C_uc002nhb.3_Silent_p.I156I	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	527										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGAGGTTCATCCGAGGCTGGG	0.557000														41			4		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515023	149515023	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:149515023G>A	uc010lpk.3	+	79	11404	c.11404G>A	c.(11404-11406)Gac>Aac	p.D3802N		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3805					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTGCTCCCTGGACGACTGCTT	0.697000														40			11		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	A	A	rs77484671		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000														35			4		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138492	126138492	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:126138492G>A	uc001uhe.1	+	8	2481	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K	TMEM132B_uc001uhf.1_Missense_Mutation_p.E337K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	825						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGAAACCAGGAGAGAGCAGT	0.498000														33			5		0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	140001791	140001791	+	Silent	SNP	C	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:140001791C>A	uc004cld.2	+	10	1691	c.1656C>A	c.(1654-1656)ctC>ctA	p.L552L	MAN1B1_uc011mep.2_Silent_p.L552L|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_Silent_p.L225L	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	552					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)		CCCAGGAGCTCATGGAGACTT	0.642000														51			25		6.32553e-13	6.50078e-13	1	1	0
SLC4A8	9498	broad.mit.edu	37	12	51853752	51853752	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:51853752G>A	uc001rys.1	+	7	1051	c.873G>A	c.(871-873)atG>atA	p.M291I	SLC4A8_uc010sni.2_Missense_Mutation_p.M238I|SLC4A8_uc001rym.3_Missense_Mutation_p.M238I|SLC4A8_uc001ryn.3_Missense_Mutation_p.M238I|SLC4A8_uc001ryo.2_Missense_Mutation_p.M238I|SLC4A8_uc001ryp.1_Missense_Mutation_p.M238I|SLC4A8_uc010snj.2_Missense_Mutation_p.M318I|SLC4A8_uc001ryq.4_Missense_Mutation_p.M291I|SLC4A8_uc001ryr.3_Missense_Mutation_p.M291I|SLC4A8_uc010snk.2_Missense_Mutation_p.M238I	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	291					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.F290F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTCATTTCATGAAAAAAATTC	0.413000														93			22		0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96512941	96512941	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:96512941C>T	uc003kmz.3	-	3	487	c.377G>A	c.(376-378)aGa>aAa	p.R126K	RIOK2_uc003kna.3_Missense_Mutation_p.R126K	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.	126							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TCTTCCTAGTCTGTGAAGCTT	0.338000														30			14		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52860648	52860648	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:52860648G>A	uc003gzi.3	-	3	2547	c.2540C>T	c.(2539-2541)tCa>tTa	p.S847L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	847						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTCCACATTTGAAAATTCTAA	0.423000														34			9		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24810395	24810395	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:24810395G>A	uc003xee.3	-	4	1662	c.1560C>T	c.(1558-1560)acC>acT	p.T520T		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	520	Tail, subdomain B (acidic).|Tail.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		cagcttctttggtttcctctc	0.403000														32			14		0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596993	39596993	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:39596993G>A	uc002hwq.1	-	0	604	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	61	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CGGCCCAGGGGAGTGGACCCC	0.637000														60			10		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133485236	133485237	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:133485236_133485237CC>TT	uc003epu.2	+	16	3173_3174	c.1445_1446CC>TT	c.(1444-1446)ccc>cTT	p.P482L	TF_uc011blt.2_Missense_Mutation_p.P355L|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.P482L	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	482	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGGAACATCCCCATGGGCCTGC	0.540000														95			35		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505705	159505705	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:159505705G>A	uc010piw.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGACAGTTAGGAAAACCACAA	0.378000														87			14		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928454	137928454	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:137928454G>A	uc002tva.1	+	5	1576	c.1576G>A	c.(1576-1578)Gga>Aga	p.G526R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G416R	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.G526R(1)|p.G557R(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCCTGATCATGGAAAATGTGG	0.522000														19			11		0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373088	27373088	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:27373088C>G	uc010ylg.2	+	1	377	c.320C>G	c.(319-321)cCg>cGg	p.P107R		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	107	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		p.V106M(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGCCGTGCCGCCCGACACC	0.692000														71			26		0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59620489	59620490	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:59620489_59620490GG>AA	uc001noj.2	-	8	1358_1359	c.1260_1261CC>TT	c.(1258-1263)gtccgc>gtTTgc	p.R421C		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	421					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCCATTGCGGACAACGTAAC	0.411000														100			12		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198672472	198672472	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:198672472G>A	uc001gur.1	+	6	803	c.623G>A	c.(622-624)gGa>gAa	p.G208E	PTPRC_uc001gut.1_Missense_Mutation_p.G47E|PTPRC_uc009wze.1_Missense_Mutation_p.G96E|PTPRC_uc009wzf.1_Missense_Mutation_p.G96E|PTPRC_uc021pgy.1_Missense_Mutation_p.G162E|PTPRC_uc010ppg.1_Missense_Mutation_p.G144E|PTPRC_uc001guu.1_Missense_Mutation_p.G251E|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Non-coding_Transcript	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	208					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGCCCTTCTGGAAGCGCTGTC	0.438000														126			34		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1096334	1096334	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:1096334C>T	uc001lsx.1	+	35	6374	c.6347C>T	c.(6346-6348)aCg>aTg	p.T2116M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4482						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGCTACTGCACGGGCTGGGGC	0.662000														25			6		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135589	156135589	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:156135589C>T	uc003ioq.3	+	1	987	c.498C>T	c.(496-498)ttC>ttT	p.F166F	NPY2R_uc003ior.3_Silent_p.F166F|NPY2R_uc021xtm.1_Silent_p.F166F	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	166					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.S165I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GAATCAGCTTCCTGATTATTG	0.532000														22			6		0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132688163	132688163	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:132688163G>A	uc001ukc.4	-	6	1266	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	GALNT9_uc009zyr.3_Missense_Mutation_p.P158S|GALNT9_uc001ukb.3_Missense_Mutation_p.P241S|GALNT9_uc001uka.3_Missense_Mutation_p.P18S	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.	384					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)		TTGTTGTAGGGCTTCCTGGTG	0.652000														63			11		0	0	1	0	0
SLC10A1	6554	broad.mit.edu	37	14	70263783	70263783	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:70263783G>A	uc001xlr.2	-	0	224	c.90C>T	c.(88-90)atC>atT	p.I30I		NM_003049	NP_003040	Q14973	NTCP_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 1 (SLC10A1), mRNA.	30					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.V29I(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		TGAACACCAGGATGACGCTCA	0.567000														58			10		0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130947941	130947941	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:130947941G>A	uc011mas.2	-	4	728	c.563C>T	c.(562-564)tCc>tTc	p.S188F	CIZ1_uc004btr.3_Missense_Mutation_p.S158F|CIZ1_uc004bts.3_Missense_Mutation_p.S134F|CIZ1_uc011maq.2_Missense_Mutation_p.S158F|CIZ1_uc004btu.3_Missense_Mutation_p.S134F|CIZ1_uc004btt.3_Missense_Mutation_p.S158F|CIZ1_uc011mar.2_Missense_Mutation_p.S57F|CIZ1_uc004btw.3_Missense_Mutation_p.S158F|CIZ1_uc004btv.3_Missense_Mutation_p.S158F|CIZ1_uc004btx.2_Missense_Mutation_p.S134F	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	158						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TCCCAGCAAGGACTGGCGAGT	0.612000														39			4		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160260356	160260356	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:160260356G>A	uc001fvv.4	-	31	3962	c.3568C>T	c.(3568-3570)Cca>Tca	p.P1190S	COPA_uc009wti.3_Missense_Mutation_p.P1181S	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	1181					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTTCTACTGGCTTTCCACGG	0.468000														52			16		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541273	55541273	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:55541273C>T	uc003xsd.1	+	3	4979	c.4831C>T	c.(4831-4833)Ccc>Tcc	p.P1611S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1611					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)			CAGTGATGATCCCAATGACAG	0.383000														53			21		0	0	1	0	0
SSX9	280660	broad.mit.edu	37	X	48163047	48163047	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:48163047C>T	uc022bvu.1	-	2	274	c.272G>A	c.(271-273)aGg>aAg	p.R91K						RecName: Full=Protein SSX9;											breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						ACCCTGATTCCTGTGGTTACG	0.488000														66			24		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935695	30935695	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:30935695C>T	uc002nsu.1	+	1	1364	c.1226C>T	c.(1225-1227)cCc>cTc	p.P409L	ZNF536_uc010edd.1_Missense_Mutation_p.P409L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D408E(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCAGCGACCCCGAGGTGCCT	0.627000														43			17		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18872381	18872381	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:18872381G>A	uc021qvx.1	-	4	744	c.553C>T	c.(553-555)Ctt>Ttt	p.L185F	PLCZ1_uc001rdv.4_Missense_Mutation_p.L81F|PLCZ1_uc001rdw.4_Intron|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	185	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TATCCCCAAAGGTCACTTGGT	0.308000														22			7		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152419175	152419175	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:152419175C>T	uc021vrb.1	-	90	13767	c.13738G>A	c.(13738-13740)Gaa>Aaa	p.E4580K	NEB_uc002txr.3_Missense_Mutation_p.E1046K|NEB_uc002txu.3_Missense_Mutation_p.E6281K|NEB_uc021vrc.1_Missense_Mutation_p.E6281K|NEB_uc010fnx.3_Missense_Mutation_p.E4568K|NEB_uc021vrd.1_Missense_Mutation_p.E4580K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4580					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)		TTGGGTTCTTCCAGAAGAGAC	0.498000														9			4		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976856	106976856	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:106976856G>A	uc001kyi.1	+	18	2937	c.2710G>A	c.(2710-2712)Gct>Act	p.A904T	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	904	PKD.					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)		CTCAGACACAGCTGTCCTCTT	0.507000														33			10		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891609	18891609	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:18891609G>A	uc001rdy.3	+	0	565	c.407G>A	c.(406-408)gGa>gAa	p.G136E	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	136					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.G136A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TATCCAAAAGGAAATTGCAAC	0.403000														48			7		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10921986	10921986	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:10921986C>T	uc002yip.1	-	17	1405	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.G328E|TPTE_uc002yir.1_Missense_Mutation_p.G308E|TPTE_uc010gkv.1_Missense_Mutation_p.G208E	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	346	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACCATAGTTCCTGTTCTATC	0.328000														59			16		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157488500	157488500	+	Silent	SNP	C	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:157488500C>A	uc009wsm.3	-	13	2891	c.2733G>T	c.(2731-2733)gtG>gtT	p.V911V	FCRL5_uc001fqu.3_Silent_p.V911V	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	911						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)				CATTAGTGTACACTGGTTGCA	0.567000														31			11		4.36969e-10	4.46718e-10	1	1	0
TTLL5	23093	broad.mit.edu	37	14	76330135	76330135	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:76330135C>T	uc010ask.2	+	29	3772	c.3497C>T	c.(3496-3498)gCc>gTc	p.A1166V	TTLL5_uc001xrx.3_Missense_Mutation_p.A1151V|TTLL5_uc001xrz.3_Missense_Mutation_p.A726V|TTLL5_uc001xsa.3_Missense_Mutation_p.A225V	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	1151					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTTCAATTTGCCCTGCAGCAA	0.517000														62			19		0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79094702	79094702	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:79094702C>T	uc010dia.3	-	10	3114	c.3034G>A	c.(3034-3036)Gag>Aag	p.E1012K	AATK_uc010dhz.3_Non-coding_Transcript|AATK_uc021ueu.1_Missense_Mutation_p.E909K	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	1012						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P1011T(1)		endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CACTTCTTCTCTGGGCCTGAG	0.667000														5			4		0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:146059006G>A	uc003ika.4	-	20	2864	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000														135			4		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147488380	147488380	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:147488380G>A	uc003lox.2	+	17	1745	c.1672G>A	c.(1672-1674)Gtt>Att	p.V558I	SPINK5_uc010jgs.1_Missense_Mutation_p.V530I|SPINK5_uc010jgr.2_Missense_Mutation_p.V539I|SPINK5_uc003low.2_Missense_Mutation_p.V558I|SPINK5_uc003loy.2_Missense_Mutation_p.V558I	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	558					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)			ggctgaaaaagttaagagaga	0.388000														68			9		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782218	62782218	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:62782218C>T	uc009yon.3	-	1	334	c.213G>A	c.(211-213)gaG>gaA	p.E71E	SLC22A8_uc009yom.3_Intron|SLC22A8_uc001nwo.3_Silent_p.E71E|SLC22A8_uc010rmm.2_Intron|SLC22A8_uc001nwp.2_Silent_p.E71E	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	71					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GGAGGCACCTCTCAGGCTTCC	0.627000														155			32		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882394	167882394	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:167882394C>T	uc003lzu.3	+	18	2785	c.2692C>T	c.(2692-2694)Cca>Tca	p.P898S	WWC1_uc003lzv.3_Missense_Mutation_p.P898S|WWC1_uc011den.2_Missense_Mutation_p.P898S|WWC1_uc003lzw.3_Missense_Mutation_p.P697S|WWC1_uc010jjf.1_Missense_Mutation_p.P170S	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	898	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GACCCCGGCCCCATCCCCCAC	0.607000														97			21		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11304351	11304351	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:11304351G>A	uc002mqm.3	-	1	484	c.405C>T	c.(403-405)ctC>ctT	p.L135L	KANK2_uc021upe.1_Silent_p.L135L|KANK2_uc002mqo.4_Silent_p.L135L|KANK2_uc002mqp.1_5'UTR|KANK2_uc002mqq.3_Silent_p.L135L	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	135										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCTGGTCCTCGAGACGGCGAC	0.716000														33			13		0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145115842	145115842	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:145115842G>T	uc001eml.1	+	5	738	c.598G>T	c.(598-600)Gta>Tta	p.V200L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA.	201					ER to Golgi vesicle-mediated transport|protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome	protein binding										AGCAGTAGCTGTATTTTTCAT	0.413000														183			12		4.93089e-13	5.07419e-13	1	1	0
ABCC6P1	653190	broad.mit.edu	37	16	18602531	18602531	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:18602531G>A	uc002dfg.3	+	7	929	c.729G>A	c.(727-729)ctG>ctA	p.L243L	ABCC6P1_uc010vam.2_Silent_p.L186L					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		GCCCACTGCTGAAGGCCATCT	0.567000														46			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066578	9066578	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:9066578G>A	uc002mkp.3	-	2	21072	c.20868C>T	c.(20866-20868)acC>acT	p.T6956T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6958	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T6956T(3)|p.T2589T(1)|p.E6955D(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						GGGAAATGCTGGTCTCTCTCA	0.448000														98			30		0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21240381	21240381	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:21240381C>T	uc002npj.3	+	4	1448	c.1267C>T	c.(1267-1269)Cat>Tat	p.H423Y	ZNF430_uc002npk.3_Missense_Mutation_p.H422Y	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TAAAAGAATTCATACTGGAGA	0.353000														30			8		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192177	66192177	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:66192177C>G	uc001ohx.1	+	6	1992	c.1816C>G	c.(1816-1818)Ccc>Gcc	p.P606A	NPAS4_uc010rpc.1_Missense_Mutation_p.P396A	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	606					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCCCCTGGTGCCCGAAGGCCT	0.592000														110			9		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42415028	42415028	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:42415028C>T	uc003gwr.2	-	36	3632	c.3400G>A	c.(3400-3402)Ggg>Agg	p.G1134R	ATP8A1_uc003gwq.2_Missense_Mutation_p.G360R|ATP8A1_uc003gws.2_Missense_Mutation_p.G1119R|ATP8A1_uc021xnv.1_5'Flank	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1134					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.G1134E(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AACGCATACCCATCTGTAGGT	0.423000														16			4		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70534965	70534965	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:70534965G>A	uc002ezc.3	-	8	1102	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I	COG4_uc002ezd.3_Missense_Mutation_p.T364I|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_Missense_Mutation_p.T58I	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	360					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ATTCATCAGGGTGACCTCAGT	0.493000														33			8		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43984263	43984263	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:43984263G>A	uc010yny.2	+	25	3884	c.3801G>A	c.(3799-3801)gaG>gaA	p.E1267E		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	1267	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATTAGGTAGAGATTGGAGATT	0.303000														33			5		0	0	1	0	0
AK301968	0	broad.mit.edu	37	15	85788521	85788521	+	RNA	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:85788521G>A	uc010upk.1	+	0		c.61G>A								Homo sapiens cDNA FLJ61448 complete cds, highly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA.																		GAGAGGCTGCGGGAGCTGGAG	0.672000														1			3		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91686137	91686137	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:91686137A>T	uc004aqf.2	-	4	1067	c.760T>A	c.(760-762)Tcc>Acc	p.S254T		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	254	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GAGGCGAAGGAGATGGACCGC	0.498000														18			8		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:16279248C>T	uc010gqp.2	-	3	1027	c.975G>A	c.(973-975)gtG>gtA	p.V325V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000														154			6		0	0	1	0	0
KIAA1967	57805	broad.mit.edu	37	8	22475940	22475940	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:22475940G>A	uc003xch.3	+	16	2401	c.2152G>A	c.(2152-2154)Ggc>Agc	p.G718S	KIAA1967_uc003xci.3_Missense_Mutation_p.G718S|KIAA1967_uc003xcj.1_Missense_Mutation_p.G387S	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	718					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAACTGGTGTGGCTACTTGCA	0.542000														122			31		0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73021967	73021967	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:73021967A>G	uc002avd.3	+	9	1015	c.677A>G	c.(676-678)tAc>tGc	p.Y226C	BBS4_uc010ukv.2_Missense_Mutation_p.Y206C|BBS4_uc002avb.3_Missense_Mutation_p.Y218C|BBS4_uc002avc.3_Missense_Mutation_p.Y46C|BBS4_uc010bja.3_Intron	NM_001252678	NP_001239607	Q96RK4	BBS4_HUMAN	Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA.	218	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CTCGGCATTTACCAGAAGGCA	0.468000									Bardet-Biedl syndrome					80			3		0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30198152	30198152	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:30198152G>A	uc010bzq.3	+	4	772	c.337G>A	c.(337-339)Gat>Aat	p.D113N	BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.2_Missense_Mutation_p.D113N|CORO1A_uc002dww.3_Missense_Mutation_p.D113N|CORO1A_uc002dwx.3_Missense_Mutation_p.D7N|CORO1A_uc002dwy.1_5'UTR|CORO1A_uc002dwz.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	113					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GGAGATCCCAGATGGGGGCCT	0.652000														45			6		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21228752	21228752	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:21228752C>T	uc002red.3	-	25	11116	c.10988G>A	c.(10987-10989)gGa>gAa	p.G3663E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3663					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)	TTCTAAGGATCCTGCAATGTC	0.438000														31			7		0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82536106	82536106	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:82536106G>A	uc001ozs.3	-	8	1446	c.1333C>T	c.(1333-1335)Ctg>Ttg	p.L445L	PRCP_uc001ozr.3_Silent_p.L466L	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	445					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACTGCAACCAGAGTGTCTGTG	0.468000														26			5		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38758136	38758136	+	Silent	SNP	A	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:38758136A>G	uc021yzh.1	+	19	2845	c.2736A>G	c.(2734-2736)caA>caG	p.Q912Q	DNAH8_uc003ooe.2_Silent_p.Q695Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTTCTTTCAAGAAGTCGAAT	0.338000														46			17		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160526076	160526076	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:160526076C>T	uc003qta.3	+	47	7584	c.7436C>T	c.(7435-7437)tCc>tTc	p.S2479F		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	2479					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AAGCTGGTGTCCTTCCATGAC	0.607000														20			5		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1807634	1807634	+	Silent	SNP	G	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:1807634G>T	uc003gdr.3	+	12	2059	c.1803G>T	c.(1801-1803)gtG>gtT	p.V601V	FGFR3_uc003gdu.2_Silent_p.V603V|FGFR3_uc003gds.3_Silent_p.V489V|FGFR3_uc003gdq.3_Silent_p.V602V	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	601	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTACCAGGTGGCCCGGGGCA	0.701000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					68			22		2.89027e-11	2.95863e-11	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31324832	31324832	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:31324832G>A	uc010dmg.1	+	11	5075	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K	ASXL3_uc002kxq.2_Missense_Mutation_p.E1381K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAACTTCACGAAGCAGACAA	0.478000														40			25		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54880844	54880844	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:54880844C>T	uc002rxu.3	+	26	5925	c.5676C>T	c.(5674-5676)gcC>gcT	p.A1892A	SPTBN1_uc002rxx.3_Silent_p.A1879A|SPTBN1_uc002rxy.3_Silent_p.A37A	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1892	Interaction with ANK2.				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)			TCCTGGAAGCCTGGAAGTCCC	0.642000														48			7		0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27426990	27426990	+	Silent	SNP	A	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:27426990A>G	uc001bnm.3	-	11	2882	c.2256T>C	c.(2254-2256)gcT>gcC	p.A752A	SLC9A1_uc001bnl.3_Silent_p.A256A|SLC9A1_uc010ofk.2_Silent_p.A413A	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	752					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)	CGTCCTCCTCAGCCACCTTTG	0.617000														144			55		0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121212236	121212236	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:121212236G>A	uc001led.3	+	13	1691	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V	GRK5_uc009xzh.3_Silent_p.V351V	NM_005308	NP_005299	P34947	GRK5_HUMAN	Homo sapiens G protein-coupled receptor kinase 5 (GRK5), mRNA.	486	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCTCCACTGTGAAGGGCGTCA	0.607000														23			7		0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77576282	77576282	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:77576282C>T	uc001xtd.3	+	2	443	c.264C>T	c.(262-264)acC>acT	p.T88T	KIAA1737_uc001xtc.1_5'UTR	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Homo sapiens KIAA1737 (KIAA1737), mRNA.	88										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CCTTCCCTACCCTGTCTCCCA	0.493000														33			19		0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15767060	15767060	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:15767060C>T	uc001awi.1	+	2	227	c.204C>T	c.(202-204)ttC>ttT	p.F68F	CTRC_uc001awj.1_Silent_p.F68F	NM_007272	NP_009203	Q99895	CTRC_HUMAN	Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA.	68	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTAGCAACTTCGTCCTCACTG	0.592000														20			6		0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58056015	58056015	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:58056015C>T	uc021rtp.1	-	2	552	c.503G>A	c.(502-504)tGg>tAg	p.W168*	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Nonsense_Mutation_p.W46*	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.									p.L168I(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATAATGTTCCAGTTTGTTGA	0.343000														35			11		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421006	55421006	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:55421006G>A	uc001sgp.4	+	1	1161	c.783G>A	c.(781-783)ggG>ggA	p.G261G	NEUROD4_uc021qyr.1_Silent_p.G261G	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	261					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S260N(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GCATCAGTGGGAACTTCTCCT	0.502000														92			19		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575445	136575445	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:136575445G>A	uc002tuu.1	-	5	1184	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	391	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)		AGGCTCCTGTGGAGGCACCCC	0.597000														60			27		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202739	140202739	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:140202739C>T	uc003lhl.2	+	0	1379	c.1379C>T	c.(1378-1380)aCc>aTc	p.T460I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.T460I|PCDHAC2_uc003lhj.1_Missense_Mutation_p.T460I	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	475	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCAGTATACCGTGTTCGTG	0.667000														95			25		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241685279	241685279	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:241685279G>A	uc010fzk.3	-	30	3497	c.3250C>T	c.(3250-3252)Ctg>Ttg	p.L1084L	KIF1A_uc002vzy.3_Silent_p.L983L|KIF1A_uc002vzz.2_Silent_p.L1084L	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	983					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)		GGCCCATCCAGGGCGGCTTTC	0.612000														19			3		0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20038380	20038380	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:20038380G>A	uc011kyq.2	-	2	567	c.96C>T	c.(94-96)ctC>ctT	p.L32L	SLC18A1_uc003wzm.3_Silent_p.L32L|SLC18A1_uc011kyr.2_Silent_p.L32L|SLC18A1_uc003wzn.3_Silent_p.L32L|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	32					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		TGTTGTCCAGGAGCAAAGCGA	0.577000														25			9		0	0	1	0	0
TCF19	6941	broad.mit.edu	37	6	31130407	31130407	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:31130407C>T	uc003nss.3	+	3	1475	c.951C>T	c.(949-951)ttC>ttT	p.F317F	TCF19_uc003nst.3_Silent_p.F317F	NM_001077511	NP_009040	Q9Y242	TCF19_HUMAN	Homo sapiens transcription factor 19 (TCF19), transcript variant 2, mRNA.	317					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						ACGTCTGGTTCCATGTGGCCT	0.637000														48			13		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641225	36641225	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:36641225G>A	uc002xhl.3	-	2	1203	c.994C>T	c.(994-996)Ctt>Ttt	p.L332F	TTI1_uc002xhm.3_Missense_Mutation_p.L332F	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	332							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GCCTTCAGAAGGGGACCAGCA	0.453000														67			19		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197030924	197030924	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:197030924C>T	uc001gtt.1	-	2	485	c.441G>A	c.(439-441)agG>agA	p.R147R		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	147	Sushi 2.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CATGTTCTTTCCTACAGGTTG	0.358000														28			17		0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33769300	33769300	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:33769300G>C	uc002hjk.1	-	2	1534	c.1204C>G	c.(1204-1206)Cca>Gca	p.P402A	SLFN13_uc010wch.1_Missense_Mutation_p.P402A|SLFN13_uc002hjl.2_Missense_Mutation_p.P402A|SLFN13_uc002hjm.2_Missense_Mutation_p.P71A|SLFN13_uc010ctt.2_Missense_Mutation_p.P84A	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	402						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAATGTCCTGGTGGAACTAGA	0.398000														22			11		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831043	61831044	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:61831043_61831044GG>AA	uc001jky.3	-	36	9933_9934	c.9595_9596CC>TT	c.(9595-9597)cca>TTa	p.P3199L	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.	3199					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						CTCGGGAATTGGGCTGGGTTTG	0.485000														40			13		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18499676	18499677	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:18499676_18499677CC>TT	uc001rdt.3	+	10	1647_1648	c.1531_1532CC>TT	c.(1531-1533)cct>TTt	p.P511F	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.P511F|PIK3C2G_uc010sic.2_Missense_Mutation_p.P289F	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	511					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)				TGTAAATGTACCTAGATGCACT	0.446000														50			7		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125047526	125047526	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:125047526G>A	uc003yqw.3	+	18	2501	c.2295G>A	c.(2293-2295)ggG>ggA	p.G765G	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	765						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)			AGCCTCCTGGGAAACGACCGG	0.493000														41			10		0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148861632	148861632	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:148861632C>T	uc003qme.1	+	16	2624	c.2149C>T	c.(2149-2151)Ctg>Ttg	p.L717L	SASH1_uc011eeb.1_Silent_p.L478L|SASH1_uc003qmf.1_Silent_p.L127L	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	717							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CAGCCAGGGCCTGAGTGGATG	0.527000														14			4		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656469	46656469	+	Missense_Mutation	SNP	G	A	A	rs138724795	by1000genomes	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:46656469G>A	uc003oyj.3	+	0	858	c.604G>A	c.(604-606)Gac>Aac	p.D202N	TDRD6_uc010jze.3_Missense_Mutation_p.D202N	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	202					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCGGGTGCCCGACAGCCTCTT	0.662000														80			25		0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58910672	58910672	+	Splice_Site	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:58910672G>A	uc010trr.2	+	8	989	c.745_splice	c.e8-1	p.V249_splice	KIAA0586_uc001xdu.4_Splice_Site_p.V181_splice|KIAA0586_uc010trs.2_Splice_Site_p.V111_splice|KIAA0586_uc001xdt.4_Splice_Site_p.V152_splice|KIAA0586_uc001xdv.4_Splice_Site_p.V196_splice|KIAA0586_uc010trt.2_Splice_Site_p.V56_splice|KIAA0586_uc010tru.1_Splice_Site_p.V56_splice	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	196										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTGTTTTAGGTGCAGAGTGA	0.299000														3			4		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1418728	1418728	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:1418728G>A	uc003boz.3	+	16	2402	c.2135G>A	c.(2134-2136)gGa>gAa	p.G712E	CNTN6_uc011asj.2_Missense_Mutation_p.G640E|CNTN6_uc003bpa.3_Missense_Mutation_p.G712E	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	712	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGAGGTGGAGGAAGTCGGTCT	0.403000														59			12		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394142	154394142	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:154394142C>T	uc010jih.1	+	0	883	c.723C>T	c.(721-723)ctC>ctT	p.L241L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	241	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGTAGATCTCGCTGGATCAG	0.433000														54			24		0	0	1	0	0
MIB1	57534	broad.mit.edu	37	18	19345796	19345796	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:19345796G>A	uc002ktq.3	+	1	293	c.293G>A	c.(292-294)tGg>tAg	p.W98*	MIB1_uc002ktp.3_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	98					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	p.R97*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGCATTCGATGGAAGTGTGCA	0.408000														52			20		0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5569190	5569190	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:5569190G>A	uc003sot.4	-	1	183	c.99C>T	c.(97-99)tcC>tcT	p.S33S	ACTB_uc003sor.4_5'UTR|ACTB_uc003soq.4_5'UTR|ACTB_uc011jwi.1_Non-coding_Transcript	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	33					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GCCCCACGATGGAGGGGAAGA	0.716000														35			11		0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147106386	147106386	+	Splice_Site	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:147106386G>A	uc004fcm.3	+	5	707	c.633_splice	c.e5-1	p.S211_splice		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	211						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTACAGCGAACCGGCCGA	0.368000														22			28		0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782166	134782166	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:134782166G>A	uc003lav.3	-	0	873	c.633C>T	c.(631-633)tcC>tcT	p.S211S		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	211	Ser-rich.					nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCAGGTGAGGGATAGTGATA	0.572000														40			11		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81591769	81591770	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:81591769_81591770TC>GT	uc003uhr.1	-	34	3078_3079	c.2822_2823GA>AC	c.(2821-2823)cga>cAC	p.R941H	CACNA2D1_uc011kgy.1_Missense_Mutation_p.R153H	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	953						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCTCAAGGAGTCGTGGAAAGGT	0.327000														7			5		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50952732	50952732	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:50952732G>A	uc009xog.3	-	11	1811	c.1777C>T	c.(1777-1779)Ctg>Ttg	p.L593L	OGDHL_uc001jie.3_Silent_p.L566L|OGDHL_uc010qgt.2_Silent_p.L509L|OGDHL_uc010qgu.2_Silent_p.L357L|OGDHL_uc009xoh.2_Silent_p.L357L	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	566					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.A593T(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTTATATGCAGAATCTTTTTA	0.532000														19			15		0	0	1	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681195	125681195	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:125681195G>A	uc004bnk.3	-	1	1093	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	ZBTB26_uc004bnj.3_Missense_Mutation_p.S340F|ZBTB26_uc022bnc.1_Missense_Mutation_p.S340F	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						ATCCTGTAAGGAACACTTCTG	0.403000														30			15		0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73919583	73919583	+	RNA	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:73919583G>A	uc011dyl.1	-	7		c.1510C>T						Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 2, mRNA.							integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						AGCCTTGGGGGAACCGATGTG	0.522000														8			4		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50727260	50727260	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:50727260G>A	uc003bkv.4	-	4	1385	c.1292C>T	c.(1291-1293)tCt>tTt	p.S431F		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	431	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)		CACAAGGATAGAGTCGTACTC	0.612000														19			17		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166003454	166003454	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:166003454G>A	uc002ucx.3	-	11	1958	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	SCN3A_uc002ucy.3_Missense_Mutation_p.S489L|SCN3A_uc002ucz.3_Missense_Mutation_p.S489L|SCN3A_uc002uda.1_Missense_Mutation_p.S358L|SCN3A_uc002udb.1_Missense_Mutation_p.S358L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	489						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)	ACTCAACTTTGATGCTTCTGA	0.443000														97			14		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82582407	82582407	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:82582407G>A	uc003uhx.2	-	4	8151	c.7862C>T	c.(7861-7863)tCt>tTt	p.S2621F	PCLO_uc003uhv.2_Missense_Mutation_p.S2621F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2552					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						AGGAACTACAGAAAACACAGG	0.453000														80			22		0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3653274	3653274	+	Splice_Site	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:3653274C>T	uc002wit.3	-	13	1399	c.1312_splice	c.e13-1	p.E438_splice	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Splice_Site_p.E438_splice|ADAM33_uc002wis.3_Splice_Site|ADAM33_uc002wiu.3_Splice_Site_p.E438_splice|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	438	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CGCGGCACTCCTGGGACCAGA	0.701000														41			8		0	0	1	0	0
SRSF2	6427	broad.mit.edu	37	17	74732963	74732963	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:74732963G>A	uc002jsy.4	-	0	531	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	SRSF2_uc010wtg.2_Missense_Mutation_p.R94C|SRSF2_uc002jsv.3_Missense_Mutation_p.R94C|SRSF2_uc002jsw.2_5'Flank|MFSD11_uc002jsz.1_Non-coding_Transcript|MFSD11_uc002jta.2_5'UTR|MIR636_uc021udo.1_5'Flank|MFSD11_uc002jtd.4_5'Flank|MFSD11_uc002jtb.3_5'Flank|MFSD11_uc002jtc.3_5'Flank|MFSD11_uc002jte.3_5'Flank|MFSD11_uc010dhb.3_5'Flank|MFSD11_uc010dha.3_5'Flank	NM_001195427	NP_001182356	Q01130	SRSF2_HUMAN	Homo sapiens serine/arginine-rich splicing factor 2 (SRSF2), transcript variant 2, mRNA.	94					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding|transcription corepressor activity	p.R94_P95insR(2)|p.G93_R94insRVQMARYG(1)|p.G93>DR(1)|p.R94P(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						TCCGGGGGGCGGCCGTAGCGC	0.726000			Mis		"""MDS, CLL"""									51			19		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42727451	42727451	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:42727451C>T	uc003clv.1	+	0	441	c.341C>T	c.(340-342)cCt>cTt	p.P114L		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	114										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)		TTCCAGATCCCTTCCATCTTC	0.622000														108			21		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13383561	13383561	+	Silent	SNP	G	A	A	rs138467259	byFrequency	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:13383561G>A	uc003bxv.1	-	21	3110	c.3027C>T	c.(3025-3027)ttC>ttT	p.F1009F		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1009					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATTTGGCAAGGAAGGGCTTCT	0.557000														42			7		0	0	1	0	0
ADPGK	83440	broad.mit.edu	37	15	73048760	73048760	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:73048760G>A	uc002avg.4	-	4	766	c.672C>T	c.(670-672)ccC>ccT	p.P224P	ADPGK_uc002ave.4_5'UTR|ADPGK_uc010ukw.2_Silent_p.P166P|ADPGK_uc002avf.4_Silent_p.P224P|ADPGK_uc002avi.4_Silent_p.P102P|ADPGK_uc002avh.4_5'UTR	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	Homo sapiens ADP-dependent glucokinase (ADPGK), transcript variant 1, mRNA.	224	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GGTTGGCATGGGGAGCTTTTA	0.532000														33			4		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135439873	135439873	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:135439873G>A	uc004ezu.1	+	9	7229	c.6938G>A	c.(6937-6939)aGa>aAa	p.R2313K	GPR112_uc010nsb.1_Missense_Mutation_p.R2108K|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2313					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGGAACAGAGAGAAGGACAA	0.333000														31			26		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929481	4929481	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:4929481G>A	uc010qyq.2	+	0	882	c.882G>A	c.(880-882)aaG>aaA	p.K294K		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	294					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)		ACTGTGTAAAGACTCGACAAA	0.408000														75			13		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146708083	146708083	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:146708083G>A	uc010khw.1	+	6	2130	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	GRM1_uc010khv.1_Missense_Mutation_p.E554K|GRM1_uc003qll.2_Missense_Mutation_p.E554K|GRM1_uc011edz.1_Missense_Mutation_p.E554K|GRM1_uc011eea.1_Missense_Mutation_p.E554K	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	554					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAAAGAGAATGAATATGTGCA	0.433000														80			18		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476005	32476006	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:32476005_32476006GG>AA	uc002roi.3	-	3	1188_1189	c.927_928CC>TT	c.(925-930)atccga>atTTga	p.R310*	NLRC4_uc021vfq.1_Nonsense_Mutation_p.R310*|NLRC4_uc002roj.2_Nonsense_Mutation_p.R310*|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	310	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGCACTTCTCGGATGAGAGCCT	0.530000														41			17		0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124421922	124421922	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:124421922C>T	uc001ufw.1	-	4	826	c.679G>A	c.(679-681)Gag>Aag	p.E227K	CCDC92_uc001ufv.1_Missense_Mutation_p.E210K|CCDC92_uc001ufx.1_Missense_Mutation_p.E227K	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	227										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TTCCTGCTCTCTGCCCCGAAT	0.582000														61			7		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7228266	7228266	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:7228266C>T	uc002gga.1	-	8	1672	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	GPS2_uc002ggb.1_Silent_p.L555L|GPS2_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CTCTGCTGCTCAGCACCACGC	0.572000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		106			27		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598708	28598708	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:28598708C>T	uc002kwj.4	-	7	1156	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E	DSC3_uc002kwi.4_Missense_Mutation_p.G334E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	334	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCCTATCAATCCAAAAAACTG	0.313000														43			14		0	0	1	0	0
FAM177B	400823	broad.mit.edu	37	1	222919965	222919965	+	Silent	SNP	C	T	T	rs140872706	byFrequency	TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:222919965C>T	uc001hnt.3	+	2	344	c.78C>T	c.(76-78)atC>atT	p.I26I	AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA.	26										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						AAAGGATTATCCATTTTGTTG	0.408000														36			10		0	0	1	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7980927	7980927	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:7980927G>A	uc001aot.3	-	8	997	c.736C>T	c.(736-738)Cca>Tca	p.P246S		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	246	Interaction with LRR-1.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCTTCTGGAAATCGGCAG	0.373000														68			24		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93117951	93117951	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:93117951C>T	uc001yap.3	+	5	709	c.557C>T	c.(556-558)cCt>cTt	p.P186L	RIN3_uc010auk.3_5'UTR|RIN3_uc001yaq.3_Missense_Mutation_p.P111L|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	186					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCGCTGAATCCTCCACAAGAA	0.627000														73			17		0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40885670	40885670	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:40885670C>T	uc002onp.3	-	3	1960	c.1675G>A	c.(1675-1677)Gac>Aac	p.D559N		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	559						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AGCTCAGGGTCTGGCCTCTGT	0.617000														13			5		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47686994	47686994	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:47686994G>A	uc002zir.1	-	9	2727	c.2691C>T	c.(2689-2691)acC>acT	p.T897T	MCM3AP_uc002ziq.1_5'Flank	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	897					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)					GGGGAAAGATGGTAGATCGCT	0.582000														7			12		0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33799745	33799745	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:33799745G>A	uc009vuh.1	-	9	2196	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	PHC2_uc001bxg.1_Silent_p.I568I|PHC2_uc001bxh.1_Silent_p.I540I|PHC2_uc001bxe.1_Silent_p.I33I|PHC2_uc001bxf.1_Intron|MIR3605_uc021okw.1_5'Flank	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	568					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CATGCGTCAGGATTTGGGGTT	0.512000														65			8		0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12767424	12767424	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:12767424G>A	uc002mub.2	-	12	1681	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	MAN2B1_uc010dyv.1_Silent_p.F534F	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	535					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTTCACAACGAAAACGCCTT	0.587000														89			12		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44891161	44891161	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:44891161G>A	uc010xxa.2	-	3	1310	c.1267C>T	c.(1267-1269)Caa>Taa	p.Q423*	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Nonsense_Mutation_p.Q416*	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	709					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						CAGTGGACTTGAAGAACGGAG	0.493000														36			17		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301735	140301735	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:140301735C>T	uc010lnk.3	-	2	983	c.463G>A	c.(463-465)Gat>Aat	p.D155N	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.D155N|DENND2A_uc003vvw.3_Missense_Mutation_p.D155N|DENND2A_uc003vvx.3_Missense_Mutation_p.D155N	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	155										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAGAGGGGATCGTTCTGAAAG	0.602000														100			34		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516131	195516131	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:195516131G>A	uc021xjp.1	-	1	2476	c.2320C>T	c.(2320-2322)Cac>Tac	p.H774Y	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.H656Y	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	779					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)		TCAGCCTGGTGGGTATGGGTC	0.612000														51			12		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416042	86416042	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:86416042G>A	uc003uid.3	+	2	2033	c.934G>A	c.(934-936)Ggc>Agc	p.G312S	GRM3_uc010lef.3_Missense_Mutation_p.G310S|GRM3_uc010leg.3_Missense_Mutation_p.G184S|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	312					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CATCATCAAGGGCAGCGAGCA	0.667000														50			19		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84800642	84800642	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:84800642G>A	uc010fgb.3	+	11	1992	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	DNAH6_uc002soo.3_Missense_Mutation_p.E198K|DNAH6_uc002sop.3_Missense_Mutation_p.E198K	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	619	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AGCTACCTTTGAAAAGTTCCA	0.343000														57			8		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72343410	72343410	+	Silent	SNP	G	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:72343410G>T	uc002llw.2	+	0	488	c.435G>T	c.(433-435)ctG>ctT	p.L145L	ZNF407_uc010xfc.2_Silent_p.L145L|ZNF407_uc010dqu.2_Silent_p.L145L|ZNF407_uc002llu.2_Silent_p.L144L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTGTTTCTCTGAAAACAGACA	0.438000														34			12		1.36491e-13	1.4083e-13	1	1	0
ZNF641	121274	broad.mit.edu	37	12	48739252	48739252	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:48739252C>T	uc001rrn.2	-	4	586	c.324G>A	c.(322-324)ctG>ctA	p.L108L	ZNF641_uc001rro.2_Silent_p.L94L|ZNF641_uc010sls.2_Intron	NM_152320	NP_001166152	Q96N77	ZN641_HUMAN	Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TGATGGTTACCAGGCCCTGAA	0.458000														35			8		0	0	1	0	0
CCDC103	388389	broad.mit.edu	37	17	42980073	42980073	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:42980073C>T	uc002iho.3	+	3	700	c.617C>T	c.(616-618)tCc>tTc	p.S206F	FAM187A_uc002ihp.1_5'Flank	NM_213607	NP_998772	Q8IW40	CC103_HUMAN	Homo sapiens coiled-coil domain containing 103 (CCDC103), mRNA.	206										endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				AACCCCAGATCCGTGAAGGAG	0.627000														36			4		0	0	1	0	0
CIB1	10519	broad.mit.edu	37	15	90775542	90775542	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:90775542C>A	uc002bpb.4	-	2	266	c.104G>T	c.(103-105)tGt>tTt	p.C35F	GDPGP1_uc002bpc.3_5'Flank	NM_006384	NP_006375	Q99828	CIB1_HUMAN	Homo sapiens calcium and integrin binding 1 (calmyrin) (CIB1), mRNA.	35					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587000														17			8		6.71089e-19	6.95184e-19	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55433486	55433486	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:55433486C>A	uc010rik.2	+	0	844	c.844C>A	c.(844-846)Ccc>Acc	p.P282T		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CATGTTAAATCCCTTGATCTA	0.458000														39			16		2.48551e-13	2.56112e-13	1	1	0
KIAA1257	57501	broad.mit.edu	37	3	128707645	128707645	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:128707645C>T	uc003elj.4	-	2	575	c.379G>A	c.(379-381)Gat>Aat	p.D127N	KIAA1257_uc003elg.1_Missense_Mutation_p.D127N|KIAA1257_uc003eli.4_Missense_Mutation_p.D15N	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	127										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGTTCTTCATCGTCCGGCAGA	0.403000														18			7		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46884198	46884198	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:46884198G>A	uc001ndn.4	-	36	5587	c.5344C>T	c.(5344-5346)Ccc>Tcc	p.P1782S	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Missense_Mutation_p.P24S	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1782					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCTGGTTTGGGGATTGCTTCA	0.443000														72			7		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144097313	144097313	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:144097313G>A	uc022aoj.1	-	4	937	c.937C>T	c.(937-939)Ccc>Tcc	p.P313S		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	313					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ATGCGCTGGGGGGTCACCCCC	0.572000														52			17		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183600831	183600831	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:183600831G>A	uc003ivd.1	+	6	1414	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	447					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGACTTCGTGGAGCTCCTGGA	0.537000														48			18		0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96075805	96075806	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:96075805_96075806CC>TT	uc003htm.4	+	12	1764_1765	c.1490_1491CC>TT	c.(1489-1491)tcc>tTT	p.S497F	BMPR1B_uc010ilb.3_Missense_Mutation_p.S497F|BMPR1B_uc003htn.4_Missense_Mutation_p.S497F	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	497					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ATGTCAGAGTCCCAGGACATTA	0.460000														19			8		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612120	189612120	+	Silent	SNP	T	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:189612120T>C	uc003fry.2	+	13	1961	c.1872T>C	c.(1870-1872)tcT>tcC	p.S624S	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Silent_p.S530S|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Silent_p.S445S	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	624	Transactivation inhibition.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCAGTGCCTCTACAGTCAGTG	0.582000										HNSCC(45;0.13)				67			11		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842327	14842327	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:14842327C>T	uc003zlm.3	-	9	2541	c.1725G>A	c.(1723-1725)ggG>ggA	p.G575G	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.	575					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)		TCAGTCCTGGCCCTGGCTTCT	0.463000														52			16		0	0	1	0	0
KIAA0664	23277	broad.mit.edu	37	17	2601589	2601589	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:2601589G>A	uc002fuy.1	-	9	1534	c.1448C>T	c.(1447-1449)aCg>aTg	p.T483M	KIAA0664_uc002fux.1_Missense_Mutation_p.T415M	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	483							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GGACTGGGCCGTGACCCGGTA	0.657000														14			9		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480448	73480448	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:73480448G>A	uc003xzb.3	+	1	1067	c.479G>A	c.(478-480)cGa>cAa	p.R160Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	160					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R160*(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)			GAGACTATGCGAGAGCGAGAA	0.463000														82			8		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25973054	25973054	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:25973054G>A	uc002rgs.2	-	10	1592	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	ASXL2_uc002rgt.1_Silent_p.F197F	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGATGTGGAGAAGTTCGGCT	0.483000														133			56		0	0	1	0	0
VAMP3	9341	broad.mit.edu	37	1	7837252	7837252	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:7837252G>A	uc001aol.3	+	2	220	c.105G>A	c.(103-105)aaG>aaA	p.K35K		NM_004781	NP_004772	Q15836	VAMP3_HUMAN	Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.	35	v-SNARE coiled-coil homology.				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ACGTGGACAAGGTTCTGGAAA	0.517000														31			8		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50699436	50699436	+	Splice_Site	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:50699436C>T	uc021vhh.1	-	15	4165	c.3244_splice	c.e15+1	p.G1082_splice	NRXN1_uc002rxb.4_Splice_Site_p.G754_splice|NRXN1_uc021vhg.1_Splice_Site_p.G1122_splice|NRXN1_uc021vhi.1_Splice_Site_p.G1118_splice|NRXN1_uc021vhj.1_Splice_Site_p.G1078_splice|NRXN1_uc002rxc.1_Splice_Site	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1082					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)			AATCTAATACCTTCACATCCT	0.423000														10			3		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651504	84651504	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:84651504G>T	uc002bjz.4	+	20	3348	c.3124G>T	c.(3124-3126)Gac>Tac	p.D1042Y	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D1042Y	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1042						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TAACAAAAATGACCTTTATCT	0.473000														38			8		0.00621372	0.00625386	1	1	0
MYO5A	4644	broad.mit.edu	37	15	52611301	52611301	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:52611301G>A	uc002aby.2	-	37	5359	c.5115C>T	c.(5113-5115)ctC>ctT	p.L1705L	MYO5A_uc002abx.3_Silent_p.L1678L|MYO5A_uc010ugd.1_Silent_p.L427L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1705	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCTTCCGCAGGAGAAGGTTGT	0.537000														47			4		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54312879	54312879	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:54312879C>T	uc002qcj.4	-	2	2254	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.A678A|NLRP12_uc002qci.4_Silent_p.A678A|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.A678A	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	678					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGGAGCACCTCGCGCGGTCTT	0.582000														32			3		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908910	158908910	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:158908910G>A	uc001ftb.3	+	3	702	c.452G>A	c.(451-453)aGg>aAg	p.R151K	PYHIN1_uc001fta.4_Missense_Mutation_p.R151K|PYHIN1_uc001ftc.3_Missense_Mutation_p.R142K|PYHIN1_uc001ftd.3_Missense_Mutation_p.R151K|PYHIN1_uc001fte.3_Missense_Mutation_p.R142K	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	151					cell cycle	nuclear speck		p.R151M(2)|p.R151S(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GGAACCAAAAGGAGTAAGATG	0.458000														39			11		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472389	71472389	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:71472389G>A	uc003hfl.3	+	12	1387	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	429					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	p.G429V(2)|p.G429*(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCCATGCCAGGAAACAAAGCC	0.502000														34			13		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678595	100678595	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:100678595A>T	uc003uxp.1	+	2	3951	c.3898A>T	c.(3898-3900)Aca>Tca	p.T1300S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1300	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCCTTTTAACAACTCCTGT	0.468000														200			53		0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50813875	50813875	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:50813875G>A	uc021tib.1	+	6	1561	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	CYLD_uc002ego.3_Missense_Mutation_p.E477K|CYLD_uc010cbs.1_Missense_Mutation_p.E477K|CYLD_uc002egp.1_Missense_Mutation_p.E477K|CYLD_uc002egq.1_Missense_Mutation_p.E477K|CYLD_uc002egr.1_Missense_Mutation_p.E477K|CYLD_uc002egs.1_Missense_Mutation_p.E477K	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	480	Interaction with IKBKG/NEMO.|Interaction with TRIP.				Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TGAAGTTAAGGAGAACCCTCC	0.517000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					44			19		0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191051	6191051	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:6191051G>A	uc010qzy.2	-	0	506	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGGCAGAAGGGCAGCCGCTT	0.502000														24			4		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27010017	27010017	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:27010017G>A	uc010crt.3	+	15	1977	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	SUPT6H_uc002hby.3_Silent_p.Q595Q	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	595					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TAGCCCTGCAGATTGCCCGTG	0.552000														17			5		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70040442	70040442	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:70040442G>A	uc010kak.3	+	21	3356	c.3080G>A	c.(3079-3081)gGa>gAa	p.G1027E	BAI3_uc003pev.4_Missense_Mutation_p.G1027E|BAI3_uc011dxx.2_Missense_Mutation_p.G233E	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1027					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G1027R(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCTTTTGTGGGACCTGCAGCC	0.363000														30			13		0	0	1	0	0
PMCH	5367	broad.mit.edu	37	12	102590799	102590799	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:102590799C>T	uc001tjl.3	-	1	466	c.400G>A	c.(400-402)Gat>Aat	p.D134N	PARPBP_uc001tjf.3_3'UTR|PARPBP_uc010swa.2_3'UTR|PARPBP_uc001tjg.3_3'UTR|PARPBP_uc001tjh.3_3'UTR|PARPBP_uc010swb.2_3'UTR|PARPBP_uc009zuc.3_3'UTR|PARPBP_uc001tjj.3_3'UTR|PARPBP_uc001tjk.3_3'UTR|PARPBP_uc009zud.3_3'UTR	NM_002674	NP_002665	P20382	MCH_HUMAN	Homo sapiens pro-melanin-concentrating hormone (PMCH), mRNA.	134					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity	p.D134E(1)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						TTTTCTTCATCCCCAATTTCT	0.363000														31			5		0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445280	10445280	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:10445280G>A	uc003gmn.3	-	2	3160	c.2673C>T	c.(2671-2673)acC>acT	p.T891T	ZNF518B_uc021xme.1_Silent_p.T891T	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GTACTTGTTTGGTTTTATTTC	0.388000														39			11		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31294199	31294199	+	Silent	SNP	T	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:31294199T>G	uc021sia.1	-	26	5069	c.4755A>C	c.(4753-4755)ccA>ccC	p.P1585P	TRPM1_uc010azy.3_Silent_p.P1453P|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.P1568P|TRPM1_uc001zfm.3_Silent_p.P1546P	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1546					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACCTGAGAGATGGGAATCCCA	0.433000														89			35		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079269	57079269	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:57079269G>A	uc003xsq.4	-	2	1487	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	PLAG1_uc003xsr.4_Missense_Mutation_p.P346S|PLAG1_uc010lyi.3_Missense_Mutation_p.P346S|PLAG1_uc010lyj.3_Missense_Mutation_p.P264S|PLAG1_uc022aur.1_Missense_Mutation_p.P264S	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	346	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TCTTTTTCAGGAATAGAAATT	0.428000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									80			28		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671831	45671831	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:45671831C>T	uc021qgn.1	-	0	643	c.643G>A	c.(643-645)Gac>Aac	p.D215N	CHST1_uc001mys.2_Missense_Mutation_p.D215N	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	215					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCGCGCAGGTCGTTCACCTCG	0.677000														49			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083882	9083882	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:9083882G>A	uc002mkp.3	-	0	8137	c.7933C>T	c.(7933-7935)Ccg>Tcg	p.P2645S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2645	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						GGAGTGTCCGGGAGTAAAGTA	0.488000														19			6		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791261	237791261	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:237791261G>A	uc001hyl.1	+	40	6441	c.6321G>A	c.(6319-6321)acG>acA	p.T2107T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2107	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACCTACACGATAAATGGTG	0.547000														29			11		0	0	1	0	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718720	1718720	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:1718720C>T	uc001lua.3	+	0	296	c.245C>T	c.(244-246)tCt>tTt	p.S82F	MOB2_uc001ltq.2_Intron	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN	Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA.	82	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGCTGTGGCTCTTGTGGCTGC	0.637000														142			58		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994865	140994865	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:140994865C>T	uc004fbt.3	+	3	1999	c.1675C>T	c.(1675-1677)Cta>Tta	p.L559L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.L218L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	559							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)					GGAGGACTCCCTATCTCCTCA	0.577000										HNSCC(15;0.026)				110			129		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44804987	44804987	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:44804987C>T	uc003tlr.3	+	15	2174	c.2051C>T	c.(2050-2052)cCc>cTc	p.P684L	ZMIZ2_uc003tlq.3_Missense_Mutation_p.P626L|ZMIZ2_uc003tls.3_Missense_Mutation_p.P658L|ZMIZ2_uc003tlt.3_Missense_Mutation_p.P307L|ZMIZ2_uc010kyj.3_Missense_Mutation_p.P206L|ZMIZ2_uc003tlu.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	684					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AAGCCAGTGCCCGTGAAGCCT	0.642000														36			10		0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6782433	6782433	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:6782433G>A	uc003wqt.3	-	1	251	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	70					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AATGGCAAGTGAAAGCCCTTG	0.493000														25			11		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121702361	121702361	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:121702361C>T	uc003idn.3	-	11	1630	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	PRDM5_uc003ido.3_Silent_p.K429K|PRDM5_uc010ine.3_Silent_p.K429K	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	460					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CACACCTATACTTCTTGTGTC	0.398000														59			11		0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93760709	93760709	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:93760709G>A	uc001ybo.3	-	2	983	c.657C>T	c.(655-657)atC>atT	p.I219I	BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_Silent_p.I134I|BTBD7_uc001ybp.3_Intron|BTBD7_uc001ybq.4_Silent_p.I134I|BTBD7_uc001ybr.3_Silent_p.I219I	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	219										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTGAACAAGGATATCGACAT	0.378000														35			4		0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130717162	130717162	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:130717162C>T	uc011bli.2	+	24	2814	c.2518C>T	c.(2518-2520)Cga>Tga	p.R840*	ATP2C1_uc011blg.2_Nonsense_Mutation_p.R840*|ATP2C1_uc011blh.2_Nonsense_Mutation_p.R801*|ATP2C1_uc003enk.3_Nonsense_Mutation_p.R790*|ATP2C1_uc003enl.3_Nonsense_Mutation_p.R806*|ATP2C1_uc003enm.3_Nonsense_Mutation_p.R806*|ATP2C1_uc003enn.3_Nonsense_Mutation_p.R790*|ATP2C1_uc003eno.3_Nonsense_Mutation_p.R806*|ATP2C1_uc003enp.3_Nonsense_Mutation_p.R806*|ATP2C1_uc003ent.3_Nonsense_Mutation_p.R806*|ATP2C1_uc003ens.3_Nonsense_Mutation_p.R806*|ATP2C1_uc003enu.3_Nonsense_Mutation_p.R484*	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	806					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GATTACACCTCGAGACACAAC	0.358000									Hailey-Hailey disease					44			12		0	0	1	0	0
SH2D4B	387694	broad.mit.edu	37	10	82329938	82329938	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:82329938C>T	uc001kck.1	+	1	643	c.213C>T	c.(211-213)ctC>ctT	p.L71L	SH2D4B_uc001kcl.1_Silent_p.L22L	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	70										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TCCAATGGCTCCTAGGGGCAG	0.512000														39			19		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158627317	158627317	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:158627317C>T	uc001fst.1	-	18	2954	c.2755G>A	c.(2755-2757)Gaa>Aaa	p.E919K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	919					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACAATAGGTTCCTTCTCTCTG	0.468000														109			8		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27372498	27372498	+	Splice_Site	SNP	C	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:27372498C>G	uc002ylz.3	-	7	1066	c.866_splice	c.e7-1	p.E289_splice	APP_uc010glk.3_Splice_Site_p.E284_splice|APP_uc002yma.3_Splice_Site_p.E289_splice|APP_uc011ach.2_Splice_Site_p.E233_splice|APP_uc021whz.1_Splice_Site_p.E289_splice|APP_uc021wia.1_Splice_Site_p.E289_splice|APP_uc002ymb.3_Intron|APP_uc010glj.3_Intron|APP_uc021wib.1_Intron|APP_uc011aci.2_Intron	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	289					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GAGCACACCTCTAATCAGAGG	0.498000														28			3		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36275968	36275968	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:36275968G>A	uc002obs.2	+	16	1825	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	ARHGAP33_uc002obr.2_Missense_Mutation_p.E561K|ARHGAP33_uc002obt.2_Missense_Mutation_p.E425K|ARHGAP33_uc002obv.1_Missense_Mutation_p.E149K	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	561					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GACGCCCACGGAGCCCACAAC	0.726000														6			3		0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	289909	289909	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:289909G>A	uc021xka.1	-	1	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ZNF732_uc011buu.1_5'UTR	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						CTTCTGGAGAGAATTCTATGG	0.418000														56			6		0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114531652	114531652	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:114531652G>A	uc001vug.3	-	2	1331	c.279C>T	c.(277-279)gtC>gtT	p.V93V	GAS6_uc001vud.3_Silent_p.V392V|GAS6_uc001vuf.3_Silent_p.V119V	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	435	Gla.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				TGACCTTGATGACCAGATTCC	0.547000														44			17		0	0	1	0	0
IFNG	3458	broad.mit.edu	37	12	68551724	68551724	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:68551724C>T	uc001stw.1	-	2	461	c.335G>A	c.(334-336)cGa>cAa	p.R112Q		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	112					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	GAAGTCATCTCGTTTCTTTTT	0.358000														69			7		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657456	46657456	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:46657456C>T	uc003bhh.3	-	0	1764	c.1764G>A	c.(1762-1764)agG>agA	p.R588R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	588	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGTGCTTATCCCTAAAATTAC	0.368000														16			20		0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57599791	57599791	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:57599791G>C	uc002yak.3	+	3	1578	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	437					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGAAGATGAAGAGGTCACGGA	0.443000														57			5		0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150080542	150080542	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:150080542C>T	uc003lst.3	-	0	128	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	2					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGAGAGGTCGCCATCTTGA	0.642000											OREG0016939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			6		0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39596955	39596955	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:39596955G>A	uc002hwq.1	-	0	642	c.219C>T	c.(217-219)tgC>tgT	p.C73C		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	73	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AAGCAGTGTGGCAGGTAGGCG	0.607000														54			16		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228432259	228432260	+	Silent	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:228432259_228432260CC>TT	uc009xez.1	+	10	3512_3513	c.3468_3469CC>TT	c.(3466-3471)cacctg>caTTtg	p.1156_1157HL>HL	OBSCN_uc001hsn.3_Silent_p.1156_1157HL>HL	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1156	Ig-like 11.		H -> Q.		apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTCCTTCCACCTGCACATCAC	0.530000														88			24		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45753582	45753582	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:45753582G>A	uc003tne.4	+	19	3366	c.3348G>A	c.(3346-3348)ggG>ggA	p.G1116G		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	1116					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CAGCAGCTGGGAAGGAGGCTT	0.692000														32			12		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45388239	45388239	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:45388239G>A	uc001zun.3	-	29	4070	c.3867C>T	c.(3865-3867)ttC>ttT	p.F1289F	DUOX2_uc010bea.3_Silent_p.F1289F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1289	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGGGCCTCTGGAATTGCAGGT	0.582000														34			10		0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49833813	49833813	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:49833813G>A	uc003xqp.3	-	0	187	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	4					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGACCAGGAAGGAGCGCGGCA	0.577000														91			25		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138968652	138968652	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:138968652T>A	uc011kqr.2	+	14	3001	c.3001T>A	c.(3001-3003)Tct>Act	p.S1001T		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1001	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCCCCTGGTTTCTAGGACAGT	0.498000														37			19		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65427054	65427054	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:65427054T>C	uc011moz.2	+	13	2608	c.2471T>C	c.(2470-2472)cTg>cCg	p.L824P	HEPH_uc004dwn.3_Missense_Mutation_p.L773P|HEPH_uc004dwo.3_Missense_Mutation_p.L503P|HEPH_uc010nkr.3_Missense_Mutation_p.L581P|HEPH_uc011mpa.2_Missense_Mutation_p.L773P|HEPH_uc010nks.3_Missense_Mutation_p.L62P	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	770	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.T823T(1)		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						TACATTTTCCTGAGCAACAAG	0.458000														5			11		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245848836	245848836	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:245848836G>A	uc001ibf.1	+	11	2991	c.2551G>A	c.(2551-2553)Gac>Aac	p.D851N	KIF26B_uc001ibg.1_Missense_Mutation_p.D469N|KIF26B_uc001ibh.1_Missense_Mutation_p.D93N	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	851					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCTGTCCAGCGACCCCGACTA	0.652000														44			10		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92446921	92446921	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:92446921G>A	uc001dol.4	+	11	2265	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K	BRDT_uc010osz.2_Missense_Mutation_p.R620K|BRDT_uc001dok.4_Missense_Mutation_p.R616K|BRDT_uc009wdf.3_Missense_Mutation_p.R543K|BRDT_uc010otb.2_Missense_Mutation_p.R570K|BRDT_uc010ota.2_Missense_Mutation_p.R570K|BRDT_uc001dom.4_Missense_Mutation_p.R616K	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	616					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)		TTAAATTCTAGAAAACGTCAA	0.353000														24			3		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43274688	43274688	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:43274688G>A	uc002yzq.1	-	11	1734	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G	PRDM15_uc002yzo.3_Silent_p.G212G|PRDM15_uc002yzp.3_Silent_p.G212G|PRDM15_uc002yzr.1_Silent_p.G212G	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGACGCCAGAGCCGGCCTGCT	0.642000														62			11		0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22796732	22796732	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:22796732C>T	uc001rft.3	+	1	481	c.459C>T	c.(457-459)ggC>ggT	p.G153G	ETNK1_uc009ziz.3_Silent_p.G153G|ETNK1_uc001rfs.3_Silent_p.G153G	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.	153					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AACTTATTGGCTGTTACGTGG	0.353000														41			14		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147674957	147674957	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr7:147674957G>A	uc003weu.2	+	14	2775	c.2259G>A	c.(2257-2259)agG>agA	p.R753R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	753	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATCCAGGAGGAAGGATGCTG	0.443000										HNSCC(39;0.1)				48			6		0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34156132	34156132	+	Splice_Site	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:34156132G>A	uc001mvk.3	+	18	2155	c.1911_splice	c.e18+1	p.G637_splice	NAT10_uc010ren.2_Splice_Site_p.G565_splice	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	637	N-acetyltransferase.					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)				GATTATCAAGGGGTAATGTGT	0.527000														35			13		0	0	1	0	0
SCARB2	950	broad.mit.edu	37	4	77116903	77116903	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:77116903C>T	uc003hju.2	-	1	588	c.232G>A	c.(232-234)Ggg>Agg	p.G78R	SCARB2_uc011cbu.2_Missense_Mutation_p.G78R	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Homo sapiens scavenger receptor class B, member 2 (SCARB2), transcript variant 1, mRNA.	78					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	p.R77K(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GGGGTCTCCCCTCTGAGGATC	0.507000														34			10		0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9711175	9711175	+	Splice_Site	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:9711175C>T	uc003brz.3	+	5	705	c.554_splice	c.e5+1	p.R185_splice	MTMR14_uc003bsa.3_Splice_Site_p.R185_splice|MTMR14_uc003bsb.3_Splice_Site_p.R185_splice|MTMR14_uc011ath.2_Intron|MTMR14_uc010hcl.3_Intron|MTMR14_uc003bsc.3_Splice_Site	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	185						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CTGTGCTCTTCGGTCAGTGCT	0.572000														31			8		0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100692836	100692836	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:100692836G>A	uc002bvv.1	-	9	1533	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I	ADAMTS17_uc002bvx.1_Missense_Mutation_p.T242I	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	485	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TCTGCAGAAGGTGGCATTCAT	0.612000														55			7		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46347328	46347328	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:46347328C>T	uc002pdn.3	-	7	1052	c.807G>A	c.(805-807)atG>atA	p.M269I	SYMPK_uc002pdo.1_Missense_Mutation_p.M269I|SYMPK_uc002pdp.1_Missense_Mutation_p.M269I|SYMPK_uc002pdq.2_Missense_Mutation_p.M269I	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	269					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGACATGAACATGGGTCTCT	0.567000														66			19		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152642893	152642893	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:152642893G>A	uc021zhb.1	-	80	16269	c.16046C>T	c.(16045-16047)cCa>cTa	p.P5349L	SYNE1_uc003qot.4_Missense_Mutation_p.P5278L|SYNE1_uc003qou.4_Missense_Mutation_p.P5349L|SYNE1_uc010kiz.3_Missense_Mutation_p.P1104L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5349					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTATTGTTGGATTCCCTAA	0.378000										HNSCC(10;0.0054)				32			19		0	0	1	0	0
C1orf27	54953	broad.mit.edu	37	1	186375275	186375275	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:186375275C>T	uc021pgj.1	+	10	1080	c.1061C>T	c.(1060-1062)aCt>aTt	p.T354I	MIR548F1_uc021pgf.1_Intron|C1orf27_uc021pgg.1_Silent_p.L354L|C1orf27_uc021pgh.1_Silent_p.L331L|C1orf27_uc021pgi.1_Silent_p.L322L|C1orf27_uc021pgk.1_Missense_Mutation_p.T331I|C1orf27_uc021pgl.1_Missense_Mutation_p.T322I	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	Homo sapiens chromosome 1 open reading frame 27 (C1orf27), transcript variant 1, mRNA.	354						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						CCTGGATCCACTGTAATGTTG	0.353000														45			21		0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45658338	45658338	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:45658338G>A	uc001zvc.3	-	5	1213	c.884C>T	c.(883-885)tCc>tTc	p.S295F	GATM_uc001zvb.3_Missense_Mutation_p.S166F|GATM_uc010uev.1_Missense_Mutation_p.S348F	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	295					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	ATCTTTAAAGGAGATGATATG	0.433000														45			6		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20112483	20112483	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:20112483G>A	uc010rdm.2	+	28	6100	c.5739G>A	c.(5737-5739)atG>atA	p.M1913I	NAV2_uc001mpp.3_Missense_Mutation_p.M1793I|NAV2_uc001mpr.4_Missense_Mutation_p.M1857I|NAV2_uc021qew.1_Missense_Mutation_p.M1860I|NAV2_uc009yhx.3_Missense_Mutation_p.M921I|NAV2_uc009yhz.3_Missense_Mutation_p.M502I|NAV2_uc001mpu.3_Missense_Mutation_p.M295I	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1916						nucleus	ATP binding|helicase activity	p.M1916I(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACAAGGAGATGAAGCTGACGG	0.507000														27			4		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57080774	57080774	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:57080774G>A	uc003xsq.4	-	1	506	c.55C>T	c.(55-57)Cct>Tct	p.P19S	PLAG1_uc003xsr.4_Missense_Mutation_p.P19S|PLAG1_uc010lyi.3_Missense_Mutation_p.P19S|PLAG1_uc010lyj.3_Intron|PLAG1_uc022aur.1_5'Flank	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	19	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TTCCCTGAAGGGACTTTCTGG	0.458000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									34			13		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248023993	248023993	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:248023993G>A	uc001ido.3	+	1	543	c.495G>A	c.(493-495)ggG>ggA	p.G165G		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	165						intracellular	zinc ion binding	p.V164L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCAACGTGGGGAAAAAGACTG	0.478000														25			7		0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112300032	112300032	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:112300032C>T	uc003dze.3	+	5	1313	c.1068C>T	c.(1066-1068)tcC>tcT	p.S356S		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	Homo sapiens solute carrier family 35, member A5 (SLC35A5), mRNA.	356						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TCAGGCCCTCCCTGGAATTTT	0.453000														58			10		0	0	1	0	0
LIN7C	55327	broad.mit.edu	37	11	27528326	27528326	+	Splice_Site	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:27528326G>A	uc001mrl.3	-	1	1	c.-26_splice	c.e1-1		LIN7C_uc009yii.3_Splice_Site|BDNF-AS_uc009yip.3_5'Flank|BDNF-AS_uc001mrn.3_5'Flank|BDNF-AS_uc001mro.3_5'Flank|BDNF-AS_uc001mrm.3_5'Flank|BDNF-AS_uc009yiq.3_5'Flank|BDNF-AS_uc001mrp.3_5'Flank|BDNF-AS_uc009yij.3_5'Flank|BDNF-AS_uc009yik.3_5'Flank|BDNF-AS_uc009yil.3_5'Flank|BDNF-AS_uc009yin.3_5'Flank|BDNF-AS_uc009yio.3_5'Flank|BDNF-AS_uc009yim.3_5'Flank|BDNF-AS_uc009yir.3_5'Flank|BDNF-AS_uc009yis.3_5'Flank|BDNF-AS_uc009yiu.3_5'Flank|BDNF-AS_uc009yix.3_5'Flank|BDNF-AS_uc009yiy.3_5'Flank|BDNF-AS_uc001mrq.4_5'Flank|BDNF-AS_uc009yiw.3_5'Flank|BDNF-AS_uc009yiz.3_5'Flank|BDNF-AS_uc001mrr.4_5'Flank|BDNF-AS_uc009yit.3_5'Flank|BDNF-AS_uc009yiv.3_5'Flank|BDNF-AS_uc009yja.3_5'Flank|BDNF-AS_uc009yjb.3_5'Flank	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	Homo sapiens lin-7 homolog C (C. elegans) (LIN7C), mRNA.						exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction				endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						CAGACCCACAGGAAATGACGA	0.642000														74			13		0	0	1	0	0
KLHDC9	126823	broad.mit.edu	37	1	161068482	161068482	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:161068482G>A	uc001fxr.3	+	0	302	c.157G>A	c.(157-159)Gag>Aag	p.E53K	KLHDC9_uc001fxq.3_5'UTR|KLHDC9_uc021pbt.1_5'UTR|KLHDC9_uc021pbu.1_Missense_Mutation_p.E53K|KLHDC9_uc001fxs.3_Missense_Mutation_p.E53K	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	Homo sapiens kelch domain containing 9 (KLHDC9), transcript variant 1, mRNA.	53										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGGAGCGAGAGAGCCCAGCAG	0.652000														23			6		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607231	84607231	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:84607231C>T	uc004amn.3	+	3	1893	c.1846C>T	c.(1846-1848)Ctt>Ttt	p.L616F		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	616						integral to membrane		p.L616F(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						GGCACGGTCTCTTTTGCCATC	0.473000														30			13		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174573	63174573	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:63174573G>A	uc001xfx.3	-	10	2671	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	874					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)		TTATCCAAACGAAGGTCACTT	0.507000														55			18		0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84668480	84668480	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:84668480T>A	uc001djl.3	+	7	991	c.898T>A	c.(898-900)Tct>Act	p.S300T	PRKACB_uc001djj.3_Missense_Mutation_p.S253T|PRKACB_uc001djn.3_Missense_Mutation_p.S257T|PRKACB_uc010oru.2_Missense_Mutation_p.S241T|PRKACB_uc010ort.2_Missense_Mutation_p.S260T|PRKACB_uc001djp.3_Missense_Mutation_p.S259T|PRKACB_uc001djq.3_Missense_Mutation_p.S223T|PRKACB_uc010orv.2_Missense_Mutation_p.S240T|PRKACB_uc001dji.3_Missense_Mutation_p.S253T|PRKACB_uc009wcf.2_Missense_Mutation_p.S259T	NM_182948	NP_891993	P22694	KAPCB_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, beta (PRKACB), transcript variant 1, mRNA.	253	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		AAAGATTGTTTCTGGAAAGGT	0.328000														27			11		0	0	1	0	0
ZNF174	7727	broad.mit.edu	37	16	3454589	3454590	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:3454589_3454590CC>GT	uc002cvc.3	+	1	1381_1382	c.566_567CC>GT	c.(565-567)ccc>cGT	p.P189R	ZNF174_uc002cva.2_Missense_Mutation_p.P189R|ZNF174_uc002cvb.3_Missense_Mutation_p.P189R	NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	189					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CGGCTGAGCCCCCATCATTGGG	0.550000														90			22		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878756	5878756	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:5878756C>T	uc010qzr.2	-	0	177	c.177G>A	c.(175-177)caG>caA	p.Q59Q	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGAGACTCTGCTCAGTCT	0.468000														56			19		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2156471	2156471	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:2156471C>T	uc002cos.1	-	17	7626	c.7417G>A	c.(7417-7419)Ggg>Agg	p.G2473R	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.G2473R|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2473	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAAGAGCCCCCCAGCGGCGGG	0.706000														14			5		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762727	130762727	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:130762727C>T	uc003qcb.3	+	1	3538	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	TMEM200A_uc003qca.3_Missense_Mutation_p.S387F|TMEM200A_uc010kfh.3_Missense_Mutation_p.S387F|TMEM200A_uc010kfi.3_Missense_Mutation_p.S387F|TMEM200A_uc021zfg.1_Missense_Mutation_p.S387F	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	387						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCAATACATCCTTGCATTTG	0.527000														47			7		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56819251	56819252	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:56819251_56819252CC>TT	uc021zba.1	-	0	154_155	c.134_135GG>AA	c.(133-135)ggg>gAA	p.G45E	BEND6_uc010kab.3_5'Flank|BEND6_uc003pdg.2_5'Flank			Q03001	DYST_HUMAN	RecName: Full=Dystonin; AltName: Full=230 kDa bullous pemphigoid antigen; AltName: Full=230/240 kDa bullous pemphigoid antigen; AltName: Full=Bullous pemphigoid antigen 1;          Short=BPA;          Short=Bullous pemphigoid antigen; AltName: Full=Dystonia musculorum protein; AltName: Full=Hemidesmosomal plaque protein;	0	Actin-binding.|CH 1.				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)			TCGGATGCCTCCCTTTCTGGAG	0.564000														15			10		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205027169	205027169	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:205027169G>A	uc001hbr.3	+	2	460	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	CNTN2_uc001hbq.1_5'UTR|CNTN2_uc009xbi.3_5'Flank|CNTN2_uc001hbs.3_5'Flank	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	64	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.A63V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCCGCGCCCGGGCCAGCCCT	0.642000														21			9		0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790815	194790815	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:194790815C>T	uc003fum.4	-	3	919	c.811G>A	c.(811-813)Gag>Aag	p.E271K	XXYLT1_uc003ful.3_Missense_Mutation_p.E68K|XXYLT1_uc003fuk.3_Missense_Mutation_p.E65K	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Homo sapiens xyloside xylosyltransferase 1 (XXYLT1), mRNA.	271						integral to membrane	transferase activity, transferring glycosyl groups										TGGGGGTTCTCATGGCGGAAC	0.672000														30			16		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26800805	26800805	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:26800805G>A	uc010wan.2	+	0	142	c.75G>A	c.(73-75)ctG>ctA	p.L25L	SLC13A2_uc010wal.1_Silent_p.L25L|SLC13A2_uc010wam.2_5'UTR|SLC13A2_uc002hbh.3_Silent_p.L25L|SLC13A2_uc010wao.2_Silent_p.L25L|SLC13A2_uc002hbi.3_5'UTR	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	25						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TTCTCCTGCTGCCTCTGCCCA	0.612000														24			5		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395371	76395371	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:76395371G>A	uc021rkq.1	+	13	2601	c.2266G>A	c.(2266-2268)Gat>Aat	p.D756N	LMO7_uc010thv.2_Missense_Mutation_p.D474N|LMO7_uc001vjt.1_Missense_Mutation_p.D422N|LMO7_uc001vjv.3_Missense_Mutation_p.D523N|LMO7_uc010thw.2_Missense_Mutation_p.D373N|LMO7_uc001vjw.1_Missense_Mutation_p.D429N	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	808						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCTTTTGATGATGTGCTGGA	0.443000														20			8		0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101009849	101009849	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:101009849G>A	uc002tam.3	-	6	1327	c.929C>T	c.(928-930)cCg>cTg	p.P310L		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	310					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GGTAATGCCCGGAGGGATAGT	0.527000														69			11		0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34862940	34862940	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:34862940G>A	uc010wcy.2	-	17	2498	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Intron|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	502	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGCGTGTCTGGAGCTGGGCTG	0.622000														51			12		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54916089	54916089	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:54916089G>A	uc021smr.1	+	29	6290	c.6290G>A	c.(6289-6291)aGa>aAa	p.R2097K	UNC13C_uc021sms.1_Missense_Mutation_p.R2099K|UNC13C_uc002acm.3_Missense_Mutation_p.R20K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2099	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GACAAGAAGAGAAAACAAGGC	0.408000														26			11		0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32589092	32589092	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr22:32589092C>A	uc003amg.3	-	3	1289	c.353G>T	c.(352-354)tGc>tTc	p.C118F	RFPL2_uc003ame.3_Missense_Mutation_p.C57F|RFPL2_uc003amf.3_Missense_Mutation_p.C28F|RFPL2_uc003amh.3_Missense_Mutation_p.C28F	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	118							zinc ion binding	p.S117S(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GCAGACGGCGCATCCACACTC	0.522000														47			31		7.11191e-15	7.34771e-15	1	1	0
CASZ1	54897	broad.mit.edu	37	1	10711033	10711033	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:10711033C>T	uc001aro.3	-	11	3101	c.2781G>A	c.(2779-2781)caG>caA	p.Q927Q	CASZ1_uc001arp.1_Silent_p.Q927Q	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	927					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)		GACTGCGGTCCTGGGAGGCTT	0.706000														19			5		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180907803	180907804	+	Silent	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:180907803_180907804CC>TT	uc001gok.2	+	5	2941_2942	c.2874_2875CC>TT	c.(2872-2877)agcctg>agTTtg	p.958_959SL>SL	KIAA1614_uc001gol.1_Silent_p.579_580SL>SL|KIAA1614_uc001gom.1_Silent_p.49_50SL>SL	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	958	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CAGAGGGAAGCCTGCAGAGGAC	0.569000														38			4		0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47374755	47374755	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:47374755C>T	uc003crd.3	+	4	835	c.709C>T	c.(709-711)Ctt>Ttt	p.L237F	KLHL18_uc003crc.2_Missense_Mutation_p.L237F|KLHL18_uc011bav.2_Missense_Mutation_p.L125F|KLHL18_uc010hjq.2_Missense_Mutation_p.L88F	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	237	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GCCCCAGTTCCTTTCAGACAG	0.597000														27			3		0	0	1	0	0
LY96	23643	broad.mit.edu	37	8	74917117	74917117	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:74917117C>T	uc003yad.3	+	1	313	c.199C>T	c.(199-201)Cca>Tca	p.P67S	LY96_uc022awb.1_Intron	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	67					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TTTCTACATTCCAAGTAAGTT	0.269000														22			11		0	0	1	0	0
RPS4X	6191	broad.mit.edu	37	X	71493688	71493688	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:71493688C>T	uc004ear.3	-	4	591	c.495G>A	c.(493-495)gaG>gaA	p.E165E		NM_001007	NP_000998	P62701	RS4X_HUMAN	Homo sapiens ribosomal protein S4, X-linked (RPS4X), mRNA.	165					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TCTTGCCAGTCTCCAAATCAA	0.478000														2			7		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295949	20295949	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:20295949C>T	uc010tkv.2	+	0	342	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L113*(1)		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)		AGGGATTACTCCTTGTTGTGA	0.507000														141			17		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5463050	5463050	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:5463050C>T	uc002gci.3	-	3	1521	c.966G>A	c.(964-966)ctG>ctA	p.L322L	NLRP1_uc002gcg.1_Silent_p.L322L|NLRP1_uc002gch.4_Silent_p.L322L|NLRP1_uc002gck.3_Silent_p.L322L|NLRP1_uc002gcj.3_Silent_p.L322L|NLRP1_uc002gcl.3_Silent_p.L322L|NLRP1_uc010clh.3_Silent_p.L322L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	322					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTTGGGTATCCAGGCCTGGGC	0.542000														171			57		0	0	1	0	0
WDR67	93594	broad.mit.edu	37	8	124094997	124094997	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:124094997C>T	uc003ypp.2	+	2	370	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	WDR67_uc011lig.2_Missense_Mutation_p.R94C|WDR67_uc011lih.2_Intron|WDR67_uc003ypq.2_Intron|WDR67_uc003ypo.1_Missense_Mutation_p.R94C	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	94						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTTAATCTTCGTAGGAAATC	0.343000														31			7		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26241146	26241146	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:26241146T>A	uc001isn.2	+	2	467	c.107T>A	c.(106-108)tTt>tAt	p.F36Y	MYO3A_uc009xko.1_Missense_Mutation_p.F36Y|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.F36Y|MYO3A_uc001ism.2_Missense_Mutation_p.F36Y	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	36	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGGAAAGTTTTTAAAGTATTG	0.308000														13			9		0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110459516	110459516	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:110459516C>T	uc003kpd.3	+	19	2447	c.2330C>T	c.(2329-2331)cCa>cTa	p.P777L	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	777					rRNA processing|response to stimulus|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AAGAATAAACCAAAGGAACCA	0.328000														43			4		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27781295	27781295	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:27781295C>T	uc002dow.3	+	20	4113	c.4089C>T	c.(4087-4089)ttC>ttT	p.F1363F		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1363										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAATCCTCTTCGTGGACTACC	0.642000														123			30		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140772636	140772636	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:140772636T>C	uc004cog.3	+	0	396	c.251T>C	c.(250-252)gTc>gCc	p.V84A	AK128414_uc004cof.1_Intron|CACNA1B_uc022bqn.1_Missense_Mutation_p.V84A	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	84					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)	GACAACGTCGTCCGCAAATAC	0.706000														13			4		0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20072466	20072466	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:20072466C>T	uc003wzp.3	+	9	1279	c.1065C>T	c.(1063-1065)acC>acT	p.T355T		NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	355					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		CTATTCTAACCATGCCTAATG	0.393000														68			18		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196887394	196887394	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	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														48			15		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687550	61687550	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:61687550C>T	uc002eog.2	-	11	3317	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	788					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E788K(2)|p.G787C(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAGTAGAGTTCGCCCAGTCTC	0.473000														51			22		0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41919965	41919965	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:41919965C>T	uc002oqq.3	+	3	426	c.387C>T	c.(385-387)tcC>tcT	p.S129S	BCKDHA_uc002oqm.4_Silent_p.S163S|BCKDHA_uc002oqp.2_Silent_p.S21S|BCKDHA_uc002oqr.3_Silent_p.S129S|BCKDHA_uc010xvz.2_Silent_p.S107S	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	129					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCCGGATCTCCTTCTACATGA	0.612000														65			18		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117718148	117718148	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:117718148G>A	uc003pxp.1	-	6	908	c.709C>T	c.(709-711)Caa>Taa	p.Q237*	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	237	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Q237P(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTAATTTTTGATTTTTGCTG	0.413000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									72			15		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835340	61835340	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:61835340A>C	uc001jky.3	-	36	5637	c.5299T>G	c.(5299-5301)Ttt>Gtt	p.F1767V	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.	1767	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						GTGGTAGAAAACACTTTCTCA	0.468000														31			9		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857733	90857733	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:90857733G>A	uc003hst.3	+	5	2973	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.E710K	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	968					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGAATTTGTGGAACCAATAAT	0.378000														33			9		0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202457679	202457679	+	Silent	SNP	A	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:202457679A>C	uc001gya.2	+	13	2019	c.1869A>C	c.(1867-1869)gtA>gtC	p.V623V	PPP1R12B_uc001gyb.1_5'UTR|PPP1R12B_uc001gyc.1_5'UTR	NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	623					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGACTCCTGTACGGGATGAGG	0.423000														7			3		0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5085329	5085329	+	Silent	SNP	G	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:5085329G>C	uc010cla.1	-	1	2379	c.2223C>G	c.(2221-2223)acC>acG	p.T741T	ZNF594_uc021tol.1_Silent_p.T741T	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCTTGCTGAAGGTTTTCTCAC	0.443000														155			38		0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93088625	93088625	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:93088625A>T	uc001pdq.3	+	2	218	c.118A>T	c.(118-120)Atg>Ttg	p.M40L	CCDC67_uc001pdo.1_Missense_Mutation_p.M40L|CCDC67_uc001pdp.3_Missense_Mutation_p.M40L	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	40										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GGAAAGAAAGATGCGGGCTTT	0.403000														36			8		0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53432307	53432307	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:53432307A>G	uc010eqj.3	-	3	761	c.551T>C	c.(550-552)aTc>aCc	p.I184T	ZNF816_uc002qaj.1_Missense_Mutation_p.I114T|ZNF816_uc002qak.2_Missense_Mutation_p.I168T	NM_001202473	NP_001189402	Q0VGE8	ZN816_HUMAN	Homo sapiens ZNF816-ZNF321P readthrough (ZNF816-ZNF321P), mRNA.	183				I -> IS (in Ref. 4; AAI05741).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GGCATTGATGATAGACTTCTC	0.373000														72			18		0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176622896	176622896	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:176622896T>A	uc003iuf.3	-	1	864	c.60A>T	c.(58-60)aaA>aaT	p.K20N	GPM6A_uc011ckj.2_Missense_Mutation_p.K13N|GPM6A_uc003iug.3_Missense_Mutation_p.K20N|GPM6A_uc003iuh.3_Missense_Mutation_p.K9N	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	20						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CCCCCAGGCATTTGATACAGC	0.433000														51			10		0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003978	34003979	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:34003978_34003979GG>AA	uc002yqh.2	-	31	4165_4166	c.4165_4166CC>TT	c.(4165-4167)cca>TTa	p.P1389L	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Missense_Mutation_p.P1303L|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.4_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1350	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTTTGGGTCTGGGGTGGGAACA	0.436000														20			8		0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2257215	2257215	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:2257215C>T	uc002coy.3	+	5	833	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	MLST8_uc002cpc.3_Nonsense_Mutation_p.Q148*|MLST8_uc010uvx.2_Nonsense_Mutation_p.Q82*|MLST8_uc002cpd.3_Nonsense_Mutation_p.Q82*|MLST8_uc002cpb.3_Nonsense_Mutation_p.Q147*|MLST8_uc002coz.3_Nonsense_Mutation_p.Q148*|MLST8_uc002cpe.3_Nonsense_Mutation_p.Q148*|MLST8_uc002cpf.3_Nonsense_Mutation_p.Q148*|MLST8_uc002cph.3_Non-coding_Transcript	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	148					T cell costimulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CGTGGGTGACCAGAGCGGGGC	0.642000														107			28		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	93511326	93511326	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:93511326C>T	uc011cdt.2	+	1	391	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	GRID2_uc010ikx.3_Missense_Mutation_p.R45C|GRID2_uc011cdu.2_Missense_Mutation_p.R45C	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	45					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R45C(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGAGGTATTTCGCACTGCGGT	0.383000														56			9		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20112485	20112485	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:20112485A>G	uc010rdm.2	+	28	6102	c.5741A>G	c.(5740-5742)aAg>aGg	p.K1914R	NAV2_uc001mpp.3_Missense_Mutation_p.K1794R|NAV2_uc001mpr.4_Missense_Mutation_p.K1858R|NAV2_uc021qew.1_Missense_Mutation_p.K1861R|NAV2_uc009yhx.3_Missense_Mutation_p.K922R|NAV2_uc009yhz.3_Missense_Mutation_p.K503R|NAV2_uc001mpu.3_Missense_Mutation_p.K296R	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1917						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAGGAGATGAAGCTGACGGAT	0.517000														28			4		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51263190	51263190	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:51263190G>A	uc011bds.2	+	14	1386	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	455	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTATGCAGATGGAGAAATCTT	0.428000														51			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179538385	179538385	+	Silent	SNP	T	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:179538385T>C	uc021vsy.1	-	146	31083	c.30858A>G	c.(30856-30858)aaA>aaG	p.K10286K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K6947K|TTN_uc010fre.1_Silent_p.K794K|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11213	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K10286N(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)			CCTCCACTTTTTTAGGAACAG	0.328000														22			6		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33634925	33634925	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:33634925C>T	uc001uus.3	+	3	1717	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	570	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAGAGGAAATCCTACTGTGTT	0.483000														46			15		0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41162268	41162268	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:41162268G>A	uc010jxm.1	-	2	859	c.680C>T	c.(679-681)tCc>tTc	p.S227F		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	227					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGTGGAGATGGATTCTGGGCC	0.627000														17			5		0	0	1	0	0
PPCDC	60490	broad.mit.edu	37	15	75341549	75341549	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:75341549C>T	uc002azo.3	+	5	701	c.588C>T	c.(586-588)ttC>ttT	p.F196F		NM_021823	NP_068595	Q96CD2	COAC_HUMAN	Homo sapiens phosphopantothenoylcysteine decarboxylase (PPCDC), mRNA.	196					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity			breast(1)|cervix(1)	2						AAGTCCTCTTCCAGCACAGTG	0.552000														29			9		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35922986	35922986	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:35922986G>A	uc003olm.3	-	16	2286	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Silent_p.I307I|SLC26A8_uc003oll.3_Silent_p.I620I|SLC26A8_uc003oln.3_Silent_p.I725I	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	725	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGAAATCCAGGATGATGGTGT	0.547000														39			14		0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31948483	31948483	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:31948483C>T	uc003nyv.3	+	6	1094	c.966C>T	c.(964-966)ctC>ctT	p.L322L	STK19_uc003nyt.3_Silent_p.L275L|STK19_uc011dox.1_Silent_p.L279L|STK19_uc003nyw.3_Silent_p.L318L|STK19_uc010jtn.1_Non-coding_Transcript|C4B_uc011doy.2_5'Flank|C4B_uc011doz.2_5'Flank|C4B_uc011dpa.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	322						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GGGAACTGCTCCTATCAGAGC	0.612000														56			18		0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39038877	39038877	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:39038877C>T	uc002hvl.3	-	1	478	c.420G>A	c.(418-420)cgG>cgA	p.R140R		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	140	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCAGGACACACCGAGCATTTT	0.313000														43			9		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222301209	222301209	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:222301209G>A	uc002vmq.3	-	12	2298	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	EPHA4_uc002vmr.2_Silent_p.I752I|EPHA4_uc010zlm.1_Silent_p.I693I	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	752	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGTTCACCAGGATGTTCCGTG	0.502000														50			13		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26688387	26688387	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:26688387G>C	uc001bmg.1	-	6	1448	c.1330C>G	c.(1330-1332)Cac>Gac	p.H444D	ZNF683_uc001bmh.1_Missense_Mutation_p.H424D|ZNF683_uc009vsj.1_Missense_Mutation_p.H424D	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGCCGATGGTGCAGCTTCAGG	0.667000														36			13		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349046	150349046	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:150349046G>A	uc010ntg.2	+	1	1129	c.991G>A	c.(991-993)Gag>Aag	p.E331K	GPR50_uc011myc.2_3'UTR	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	331	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.E331K(3)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGATGCAGGAGGCCCGTAC	0.557000														50			43		0	0	1	0	0
PELI1	57162	broad.mit.edu	37	2	64327545	64327545	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:64327545G>A	uc002scs.4	-	2	4329	c.290C>T	c.(289-291)aCc>aTc	p.T97I	PELI1_uc002sct.4_Missense_Mutation_p.T97I|PELI1_uc002scr.4_5'Flank	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.	97					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						AAACATATCGGTGTTGCTGTC	0.348000														60			22		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352615	168352615	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:168352615C>T	uc021zik.1	+	28	4756	c.4437C>T	c.(4435-4437)gcC>gcT	p.A1479A	MLLT4_uc003qwb.1_Silent_p.A1504A|MLLT4_uc003qwc.2_Silent_p.A1520A|MLLT4_uc021zij.1_Silent_p.A1503A|MLLT4_uc021zim.1_Silent_p.A1066A|MLLT4_uc003qwg.1_Silent_p.A829A	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1520					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGCGGGACGCCAAGGAGAAGC	0.607000			T	MLL	AL									47			10		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47664722	47664722	+	Splice_Site	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:47664722C>T	uc002zir.1	-	23	5074	c.5038_splice	c.e23+1	p.A1680_splice	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Splice_Site_p.A175_splice|MCM3AP_uc002zip.1_Splice_Site_p.A421_splice|MCM3AP_uc002ziq.1_Splice_Site_p.A607_splice|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1680					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)					AGCACGTACCCCCCAGGGGTG	0.622000														29			15		0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2638719	2638719	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:2638719C>T	uc002wgh.3	+	11	1693	c.1564C>T	c.(1564-1566)Ctt>Ttt	p.L522F	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_Missense_Mutation_p.L356F	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	522	Lys-rich.				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						GAGTAGCGATCTTGAAGAGAC	0.483000														23			11		0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	A	A	rs121913385		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr9:21971111G>A	uc003zpk.3	-	1	553	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.H83Y|CDKN2A_uc003zpl.3_Missense_Mutation_p.A97V	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		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.H83Y(64)|p.?(44)|p.H83fs*2(4)|p.V82_G89>G(2)|p.H83N(2)|p.V82fs*62(2)|p.P81_A85del(2)|p.V82_E88del(2)|p.V82M(2)|p.H83P(2)|p.E61_L94del(2)|p.A138V(2)|p.R80fs*34(1)|p.A68fs*3(1)|p.H83Q(1)|p.V82fs*44(1)|p.H83R(1)|p.V82V(1)|p.0(1)|p.V82fs*64(1)|p.R137fs*48(1)|p.V82L(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)		GCAGCGTCGTGCACGGGTCGG	0.741000	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				15			9		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48808503	48808503	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:48808503G>A	uc001zwx.2	-	10	1599	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	402	Pro-rich.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTGGGGGAGGATATTCTGGT	0.502000														77			14		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402035	89402035	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr15:89402035C>T	uc010upo.1	+	11	6593	c.6219C>T	c.(6217-6219)gtC>gtT	p.V2073V	ACAN_uc010upp.1_Silent_p.V2073V|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2073					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGAAAAGTCTCCACAGCTG	0.527000														20			3		0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48250288	48250288	+	Splice_Site	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:48250288G>A	uc002phm.2	+	2	313	c.289_splice	c.e2+1	p.G97_splice		NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.	97						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CAAGGAAAAAGGTGAGGAGAG	0.483000														30			16		0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40776320	40776320	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:40776320G>A	uc003gvj.4	+	4	1022	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	NSUN7_uc003gvh.2_Missense_Mutation_p.R176Q|NSUN7_uc003gvi.4_Missense_Mutation_p.R176Q	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						GCAAGATGTCGAATCAAGCAT	0.378000														38			24		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944414	144944414	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:144944414C>T	uc003zaa.1	-	0	3021	c.3008G>A	c.(3007-3009)cGg>cAg	p.R1003Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1003						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCTCAGCCCGCTTCAGCCT	0.617000														15			4		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48032152	48032152	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:48032152C>T	uc003gxw.3	+	2	395	c.329C>T	c.(328-330)tCt>tTt	p.S110F		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	110						integral to membrane		p.H109Y(1)		endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GGTGGACATTCTTACCTGAAG	0.338000														14			3		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365764	175365764	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:175365764C>T	uc001gkp.1	-	2	1237	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	TNR_uc009wwu.1_Missense_Mutation_p.E386K|TNR_uc010pmz.1_Missense_Mutation_p.G351E	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	386	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)					AGACCTGGCTCCAGCTCCGTG	0.592000														40			8		0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27282176	27282176	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:27282176C>T	uc002rie.3	+	10	2210	c.1993C>T	c.(1993-1995)Ccc>Tcc	p.P665S	AGBL5_uc002rid.3_Missense_Mutation_p.P665S|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	665					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.S664F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGAATTCCCCCAGCTTTCC	0.577000														114			13		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16049688	16049688	+	Splice_Site	SNP	A	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:16049688A>C	uc002gpo.3	-	10	1351	c.1082_splice	c.e10+1	p.R361_splice	NCOR1_uc002gpn.3_Splice_Site_p.R361_splice|NCOR1_uc002gpp.1_Splice_Site_p.R252_splice|NCOR1_uc002gpr.3_Splice_Site_p.R252_splice|NCOR1_uc002gps.2_Splice_Site_p.R370_splice|NCOR1_uc010cpb.2_Splice_Site_p.R370_splice|NCOR1_uc010coz.2_Splice_Site_p.R177_splice|NCOR1_uc010cpa.2_Splice_Site_p.R361_splice	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	361	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAAACTACTCACCGCTGAAAT	0.303000														59			9		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065708	23065708	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:23065708C>T	uc002wsv.3	-	0	1270	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	374	EGF-like 3; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.E374K(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GACCGCCCGGCTCATAGCCAA	0.632000														29			7		0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170627863	170627863	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:170627863C>T	uc003qxp.3	+	1	1493	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	FAM120B_uc003qxo.1_Missense_Mutation_p.P462L|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	462					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CAAGAAGTTCCCATGTATACA	0.483000														127			44		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841442	208841442	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:208841442G>A	uc002vcl.2	-	2	1969	c.1479C>T	c.(1477-1479)agC>agT	p.S493S	PLEKHM3_uc002vcm.2_Silent_p.S493S	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	493					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCTCAGGAAGCTGGTAGTCA	0.453000														11			7		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47571147	47571147	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:47571147G>A	uc003gxk.1	+	15	3311	c.3147G>A	c.(3145-3147)gtG>gtA	p.V1049V	ATP10D_uc003gxl.1_Silent_p.V297V	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1049					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATCTCCAGGTGATGACCCTTG	0.527000														26			7		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680623	128680623	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:128680623C>A	uc010sbu.2	+	8	1442	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	FLI1_uc010sbt.2_Missense_Mutation_p.Q174K|FLI1_uc010sbv.2_Missense_Mutation_p.Q334K|FLI1_uc009zci.3_Missense_Mutation_p.Q301K	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	367					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CGGCATTGCCCAGGCTCTGCA	0.493000			T	EWSR1	Ewing sarcoma									41			4		0.00024832	0.000251222	1	1	0
PNPLA1	285848	broad.mit.edu	37	6	36269778	36269778	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:36269778G>A	uc010jwf.2	+	5	916	c.916G>A	c.(916-918)Gga>Aga	p.G306R	PNPLA1_uc010jwe.1_Missense_Mutation_p.G220R|PNPLA1_uc003olw.1_Missense_Mutation_p.G211R	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	306					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CAGTCTGGAAGGAGCCACACA	0.587000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			11		0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624599	624599	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:624599C>T	uc002cho.3	+	1	663	c.525C>T	c.(523-525)ctC>ctT	p.L175L	PIGQ_uc010bqw.3_Silent_p.L175L|PIGQ_uc002chm.3_Silent_p.L175L|PIGQ_uc002chn.3_Silent_p.L175L|PIGQ_uc010uui.2_Silent_p.L189L	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	175					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)				GTGAGGTGCTCTTCCGCAGTG	0.706000														7			4		0	0	1	0	0
GRSF1	2926	broad.mit.edu	37	4	71701973	71701973	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:71701973G>A	uc010iia.1	-	1	499	c.416C>T	c.(415-417)cCg>cTg	p.P139L	GRSF1_uc011caz.1_Missense_Mutation_p.P21L|GRSF1_uc003hfs.2_5'UTR	NM_002092	NP_001091947	Q12849	GRSF1_HUMAN	Homo sapiens G-rich RNA sequence binding factor 1 (GRSF1), transcript variant 1, mRNA.	139	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TAACTTGGACGGGGCCAATTC	0.438000														40			14		0	0	1	0	0
EIF2C3	192669	broad.mit.edu	37	1	36479616	36479616	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:36479616C>T	uc001bzp.3	+	10	1718	c.1373C>T	c.(1372-1374)gCc>gTc	p.A458V	EIF2C3_uc001bzq.3_Missense_Mutation_p.A224V	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	458					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTTGTTTTGCCACACAGAGG	0.418000														88			14		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19426979	19426979	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:19426979G>C	uc001bbi.3	-	88	13116	c.13112C>G	c.(13111-13113)cCg>cGg	p.P4371R	UBR4_uc010ocv.2_5'Flank|UBR4_uc009vph.3_Missense_Mutation_p.P5R|UBR4_uc010ocw.2_Missense_Mutation_p.P62R|UBR4_uc001bbg.3_Missense_Mutation_p.P82R|UBR4_uc001bbh.3_Missense_Mutation_p.P80R	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4371					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTGCTATACGGGTTCCCAGG	0.517000														78			14		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218954061	218954061	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:218954061G>A	uc010fvl.2	+	11	2107	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	RUFY4_uc002vgw.3_Missense_Mutation_p.R357Q	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	530							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATCTTTGGCCGATTTTCTCGG	0.602000														20			3		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702080	181702080	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:181702080C>T	uc009wxt.3	+	19	3053	c.2858C>T	c.(2857-2859)cCc>cTc	p.P953L	CACNA1E_uc001gow.3_Missense_Mutation_p.P953L|CACNA1E_uc009wxs.3_Missense_Mutation_p.P934L|CACNA1E_uc001gox.1_Missense_Mutation_p.P179L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	953					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						GAAGCCATGCCCACTGAAGGG	0.602000														81			24		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390374	158390374	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:158390374G>A	uc010pii.2	-	0	283	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GCACAGCCCAGGAAAGAAATG	0.478000														65			41		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117742078	117742078	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chrX:117742078G>A	uc004eqp.2	+	24	2788	c.2725G>A	c.(2725-2727)Gat>Aat	p.D909N	DOCK11_uc004eqq.2_Missense_Mutation_p.D675N	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	909					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGAAGGCTTGGATAGTTATCT	0.318000														16			19		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626906	108626906	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:108626906C>T	uc002tdv.3	+	8	1608	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	SLC5A7_uc010ywm.2_Silent_p.F197F|SLC5A7_uc010fjj.3_Silent_p.F444F|SLC5A7_uc010ywn.2_Silent_p.F331F	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	444					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTGGCCTCTTCCTGAGAATAA	0.443000														47			4		0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50411602	50411602	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:50411602A>T	uc002prb.3	-	1	1707	c.1463T>A	c.(1462-1464)aTc>aAc	p.I488N	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Missense_Mutation_p.I488N|NUP62_uc002pqy.3_Missense_Mutation_p.I488N|NUP62_uc002pra.3_Missense_Mutation_p.I488N|NUP62_uc002pqz.3_Missense_Mutation_p.I488N|NUP62_uc002prc.3_Missense_Mutation_p.I412N|NUP62_uc021uya.1_Missense_Mutation_p.I488N	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	488					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTTCTGGTCGATCCACTGCAG	0.627000														104			23		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55698960	55698960	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:55698960C>T	uc002qjq.3	-	13	2560	c.2487G>A	c.(2485-2487)ctG>ctA	p.L829L	PTPRH_uc010esv.3_Silent_p.L651L|BC034929_uc002qjr.3_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	829	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGTGGCCCACCAGGGAGAGTT	0.597000														44			11		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257381	16257381	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:16257381A>T	uc001axk.1	+	10	4850	c.4646A>T	c.(4645-4647)aAa>aTa	p.K1549I	SPEN_uc010obp.1_Missense_Mutation_p.K1508I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1549					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTAGAGAGAAAAGAGGAAGAT	0.418000														36			4		0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6227094	6227095	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:6227094_6227095CC>TT	uc002mek.3	-	4	603_604	c.439_440GG>AA	c.(439-441)gga>AAa	p.G147K		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	147					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						CGTGTCTGCTCCTTCGGGCATT	0.599000			T	MLL	AL									43			10		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147644	6147645	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:6147644_6147645GT>AA	uc002mef.1	+	2	482_483	c.255_256GT>AA	c.(253-258)cagtac>caAAac	p.Y86N	ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Missense_Mutation_p.Y86N|ACSBG2_uc002meh.1_Missense_Mutation_p.Y86N|ACSBG2_uc002mei.1_Missense_Mutation_p.Y36N|ACSBG2_uc010xiz.1_Missense_Mutation_p.Y86N	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	86					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTTCAACCAGTACTATGAGGC	0.411000														112			27		0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52905928	52905928	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:52905928G>A	uc001wzs.3	-	19	2637	c.2188C>T	c.(2188-2190)Cat>Tat	p.H730Y	TXNDC16_uc010tqu.2_Missense_Mutation_p.H725Y|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	730					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TTACTGATATGATTTTCTAGT	0.333000														17			8		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747348	62747348	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:62747348G>A	uc001nwk.3	-	6	1443	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	SLC22A6_uc001nwl.3_Silent_p.I370I|SLC22A6_uc001nwj.3_Silent_p.I370I|SLC22A6_uc001nwm.3_Silent_p.I370I	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	370					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGATCACCTGGATTAGGTAGA	0.562000														51			8		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273945	10273945	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:10273945G>A	uc010uym.2	-	2	634	c.324C>T	c.(322-324)gcC>gcT	p.A108A	GRIN2A_uc002czo.4_Silent_p.A108A|GRIN2A_uc002czr.4_Silent_p.A108A|GRIN2A_uc010buk.3_Silent_p.A108A	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	108					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTGGGCTACGGCCTCCTGGT	0.612000														83			9		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9009814	9009814	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:9009814G>A	uc001quz.4	+	23	3001	c.2903G>A	c.(2902-2904)aGt>aAt	p.S968N	A2ML1_uc001qva.1_Missense_Mutation_p.S548N|A2ML1_uc010sgm.2_Missense_Mutation_p.S468N	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	812						extracellular space	endopeptidase inhibitor activity	p.P967R(1)		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						CAGATGCCCAGTGGCTGTGGC	0.552000														76			31		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485123	97485123	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:97485123C>T	uc001vmw.3	+	1	1111	c.1087C>T	c.(1087-1089)Ctc>Ttc	p.L363F		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	363						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GACACAGTTTCTCTTTGAGAG	0.498000														49			22		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46976810	46976810	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:46976810G>A	uc003oyt.3	-	10	2560	c.2361C>T	c.(2359-2361)atC>atT	p.I787I	GPR110_uc011dwl.2_Silent_p.I475I	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	787			I -> V (in dbSNP:rs1226475).		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						TCCCCACGCGGATGATGGTGG	0.552000														33			9		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494764	55494764	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:55494764C>T	uc021vbq.1	+	5	1809	c.1698C>T	c.(1696-1698)gcC>gcT	p.A566A	NLRP2_uc010yfp.2_Silent_p.A543A|NLRP2_uc002qij.3_Silent_p.A566A|NLRP2_uc010esp.3_Silent_p.A544A|NLRP2_uc010esn.3_Silent_p.A542A|NLRP2_uc010eso.3_Silent_p.A563A	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	566					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAAGAGAGCCAAGGAGTTGG	0.532000														31			19		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883877	63883878	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:63883877_63883878GG>AA	uc021qks.1	+	0	138_139	c.138_139GG>AA	c.(136-141)acggag>acAAag	p.E47K	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.E47K	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	19	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.T46T(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCTTCCTGACGGAGGTCATCGA	0.639000														20			10		0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118986926	118986926	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr11:118986926C>T	uc001pvn.3	+	13	2443	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F	C2CD2L_uc001pvo.3_Missense_Mutation_p.S694F	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	694						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TCCTTCAAATCCAAACCCAAG	0.577000														17			12		0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1286517	1286517	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr20:1286517C>T	uc002wet.3	+	6	2117	c.1436C>T	c.(1435-1437)cCg>cTg	p.P479L	SNPH_uc002wes.3_Missense_Mutation_p.P435L	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	435					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGGTGGTGCCGGCCGTGCCC	0.677000														5			8		0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87492144	87492144	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:87492144A>T	uc003kjc.3	-	11	1473	c.1348T>A	c.(1348-1350)Ttt>Att	p.F450I	TMEM161B_uc011cty.2_Missense_Mutation_p.F439I|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctx.2_Missense_Mutation_p.F241I	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	450						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AGAGGAGTAAAAATATTTTTT	0.393000														28			5		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180897640	180897640	+	Missense_Mutation	SNP	G	A	A	rs111709771		TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:180897640G>A	uc001gok.2	+	3	1203	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	KIAA1614_uc001gol.1_5'UTR|KIAA1614_uc001gom.1_5'UTR	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	379										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CAGCGTGCCCGCATGAAGGCC	0.687000														119			4		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96772020	96772020	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:96772020G>A	uc001yfi.3	-	30	5004	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1547										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACCACATAGCGAATCACAGGA	0.433000														43			3		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1230943	1230943	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr10:1230943G>A	uc009xhq.3	-	8	2227	c.1901C>T	c.(1900-1902)tCg>tTg	p.S634L	ADARB2_uc001igj.2_Missense_Mutation_p.S18L|ADARB2_uc001igl.4_5'UTR|ADARB2_uc001igm.4_Missense_Mutation_p.S143L	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	634	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GAAGGGGGGCGACTTCCCCGG	0.682000														15			15		0	0	1	0	0
DEFB105A	245908	broad.mit.edu	37	8	7680921	7680921	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr8:7680921G>A	uc011kwr.2	-	1	95	c.95C>T	c.(94-96)tCc>tTc	p.S32F	DEFB106A_uc003wru.1_5'Flank	NM_152250	NP_689463	Q8NG35	D105A_HUMAN	Homo sapiens defensin, beta 105A (DEFB105A), mRNA.	32					defense response to bacterium	extracellular region				lung(2)|skin(1)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		AAATGGTTGGGAAAAATCAAG	0.358000														50			4		0	0	1	0	0
S100A12	6283	broad.mit.edu	37	1	153346314	153346314	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:153346314G>A	uc001fbr.1	-	2	336	c.268C>T	c.(268-270)Cac>Tac	p.H90Y		NM_005621	NP_005612	P80511	S10AC_HUMAN	Homo sapiens S100 calcium binding protein A12 (S100A12), mRNA.	90					defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	TACTCTTTGTGGGTGTGGTAA	0.488000														39			24		0	0	1	0	0
CEP57L1	285753	broad.mit.edu	37	6	109481892	109481892	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:109481892C>T	uc010kdk.3	+	11	1711	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	CEP57L1_uc003psx.4_Silent_p.I378I|CEP57L1_uc010kdl.3_Silent_p.I378I|CEP57L1_uc003psy.4_Silent_p.I378I	NM_001083535	NP_776191	Q8IYX8	CE57L_HUMAN	Homo sapiens centrosomal protein 57kDa-like 1 (CEP57L1), transcript variant 1, mRNA.	378						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						GAGAACAAATCTCCAAACTGA	0.333000														18			12		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856783	53856783	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:53856783T>G	uc010ydv.1	+	3	2972	c.2855T>G	c.(2854-2856)tTt>tGt	p.F952C	ZNF845_uc010ydw.1_Missense_Mutation_p.F952C	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	952					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGCAAGGTTTTTAATCGAAAA	0.343000														10			10		0	0	1	0	0
PDCD10	11235	broad.mit.edu	37	3	167414821	167414821	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:167414821G>A	uc003fez.3	-	3	418	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	PDCD10_uc003fex.3_Missense_Mutation_p.R82C|PDCD10_uc003fey.3_Missense_Mutation_p.R82C	NM_145860	NP_665859	Q9BUL8	PDC10_HUMAN	Homo sapiens programmed cell death 10 (PDCD10), transcript variant 3, mRNA.	82					angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of MAP kinase activity|positive regulation of cell proliferation	Golgi membrane|cytosol|plasma membrane	protein N-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						GCTGCCATACGAAGAAGGGAC	0.348000														45			20		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946460	66946460	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:66946460C>T	uc002eql.3	-	10	1500	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	CDH16_uc010cdy.3_Missense_Mutation_p.E436K|CDH16_uc021tjx.1_Missense_Mutation_p.E436K|CDH16_uc002eqm.3_Missense_Mutation_p.E339K	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	436	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACTGCGACTTCGACTTCACAC	0.592000														29			10		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628324	33628324	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr13:33628324G>A	uc001uus.3	+	1	1248	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	KL_uc001uur.1_Missense_Mutation_p.E107K	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	414	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ATTTATTGTGGAAAATGGCTG	0.408000														116			26		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21239448	21239448	+	Silent	SNP	T	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:21239448T>C	uc002red.3	-	20	3323	c.3195A>G	c.(3193-3195)caA>caG	p.Q1065Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1065					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)	AATCCGGAATTTGGACTTCAC	0.438000														43			8		0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573686	136573686	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:136573686G>A	uc003erf.4	+	1	598	c.384G>A	c.(382-384)cgG>cgA	p.R128R	SLC35G2_uc003erg.4_Silent_p.R128R|SLC35G2_uc010hub.3_Silent_p.R128R|SLC35G2_uc021xem.1_Silent_p.R128R	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	128	DUF6 1.					Golgi apparatus|integral to membrane											TTTCTGATCGGTCTAAAGTTC	0.403000														100			20		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865107	6865107	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:6865107G>A	uc003gjr.4	+	6	3461	c.2998G>A	c.(2998-3000)Gat>Aat	p.D1000N	KIAA0232_uc003gjq.4_Missense_Mutation_p.D1000N	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	1000							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TGAACAGAATGATCAGCCGAA	0.438000														29			14		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186043930	186043930	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr1:186043930A>C	uc001grq.1	+	52	8426	c.8197A>C	c.(8197-8199)Aag>Cag	p.K2733Q	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2733	Ig-like C2-type 25.				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						ACTTCAAATAAAGGAGGCTCA	0.363000														33			20		0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84862782	84862783	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:84862782_84862783GG>AA	uc010kbp.3	-	22	3207_3208	c.3110_3111CC>TT	c.(3109-3111)gcc>gTT	p.A1037V	KIAA1009_uc003pkj.4_Missense_Mutation_p.A961V|KIAA1009_uc003pki.4_Missense_Mutation_p.A423V	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	1037					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TGATCTGATGGGCTTCCTTGAT	0.401000														26			7		0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:219449406C>T	uc010zkh.2	+	3	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_uc002vih.1_Missense_Mutation_p.P131L|RQCD1_uc010zki.2_Missense_Mutation_p.P131L	NM_005444	NP_005435	Q92600	RCD1_HUMAN	Homo sapiens RCD1 required for cell differentiation1 homolog (S. pombe) (RQCD1), mRNA.	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000														100			14		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1250392	1250393	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr16:1250392_1250393CC>TT	uc002cks.3	+	6	1188_1189	c.940_941CC>TT	c.(940-942)ccc>TTc	p.P314F	CACNA1H_uc002ckt.3_Missense_Mutation_p.P314F	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	314					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCTGCGCATGCCCTGCACCCTG	0.673000														14			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065994	9065994	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:9065994G>A	uc002mkp.3	-	2	21656	c.21452C>T	c.(21451-21453)tCa>tTa	p.S7151L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7153	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						CTTTGGAGGTGAACTGGTTAC	0.507000														62			19		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592873	156592873	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:156592873C>T	uc003lwn.3	-	0	407	c.307G>A	c.(307-309)Ggc>Agc	p.G103S		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	103						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAAACCGGCCCCATCTGACA	0.552000														51			9		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607745	141607745	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:141607745C>T	uc002tvj.1	-	28	5837	c.4865G>A	c.(4864-4866)tGg>tAg	p.W1622*	LRP1B_uc010fnl.1_Nonsense_Mutation_p.W804*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1622					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)		AATATCTGTCCAGTATAAACG	0.353000										TSP Lung(27;0.18)				39			6		0	0	1	0	0
C1D	10438	broad.mit.edu	37	2	68274371	68274371	+	Silent	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr2:68274371G>A	uc002sea.4	-	1	154	c.72C>T	c.(70-72)tcC>tcT	p.S24S	C1D_uc010fdc.3_Silent_p.S24S|C1D_uc021viu.1_Silent_p.S24S|C1D_uc002sec.3_Silent_p.S24S|C1D_uc002seb.3_Silent_p.S24S	NM_173177	NP_775269	Q13901	C1D_HUMAN	Homo sapiens C1D nuclear receptor corepressor (C1D), transcript variant 2, mRNA.	24	Required for transcriptional repression (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding			lung(2)|urinary_tract(1)	3						CAGCACCAATGGAATTCTCAA	0.338000														29			6		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149399	41149399	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr5:41149399C>T	uc003jmk.2	-	16	2777	c.2567G>A	c.(2566-2568)aGc>aAc	p.S856N	C6_uc003jml.1_Missense_Mutation_p.S856N	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	856	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTCTTTGTGCTGTTGGATGA	0.418000														115			50		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21328004	21328004	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr18:21328004C>T	uc002kuq.3	+	2	631	c.545C>T	c.(544-546)tCa>tTa	p.S182L	LAMA3_uc010dlv.2_Missense_Mutation_p.S182L|LAMA3_uc002kur.3_Missense_Mutation_p.S182L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	182	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			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)	AGCACCTACTCACCATGGCAA	0.373000														43			8		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15536360	15536360	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr19:15536360G>A	uc002nbc.3	-	4	1846	c.1823C>T	c.(1822-1824)gCc>gTc	p.A608V	WIZ_uc002nba.4_Missense_Mutation_p.A475V|WIZ_uc002nbb.4_Missense_Mutation_p.A434V	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1291						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						CAGGGCAGGGGCCAGGTCTCC	0.672000														32			5		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238178	126238178	+	Silent	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr4:126238178C>T	uc003ifj.4	+	0	612	c.612C>T	c.(610-612)tcC>tcT	p.S204S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	204	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCTGGTGTCCAAGGGCGGAC	0.642000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			7		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17850625	17850625	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:17850625C>T	uc003ncg.4	-	7	806	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	KIF13A_uc003ncf.3_Missense_Mutation_p.E216K|KIF13A_uc003nch.4_Missense_Mutation_p.E216K|KIF13A_uc003nci.4_Missense_Mutation_p.E216K	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	216	Kinesin-motor.				Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTGCTTTCTTCGTTCATGTTG	0.448000														22			7		0	0	1	0	0
XAF1	54739	broad.mit.edu	37	17	6663903	6663903	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr17:6663903A>G	uc002gdn.3	+	3	646	c.404A>G	c.(403-405)cAg>cGg	p.Q135R	XAF1_uc010clr.1_Missense_Mutation_p.Q135R|XAF1_uc002gdm.1_Missense_Mutation_p.Q75R|XAF1_uc002gdo.3_Missense_Mutation_p.Q116R|XAF1_uc002gdp.3_Missense_Mutation_p.R113G|XAF1_uc002gdq.3_Intron|XAF1_uc002gdr.3_Missense_Mutation_p.R94G	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	Homo sapiens XIAP associated factor 1 (XAF1), transcript variant 1, mRNA.	135					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CGCAGTGAACAGGCCCAGCTC	0.587000														26			8		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121151191	121151191	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr3:121151191A>T	uc003eee.4	-	29	7862	c.7733T>A	c.(7732-7734)aTa>aAa	p.I2578K	POLQ_uc003eed.3_Missense_Mutation_p.I1750K	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2578					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCTGGCGCCTATTTTCACTTT	0.418000								DNA polymerases (catalytic subunits)						48			10		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71003879	71003879	+	Silent	SNP	A	T	T			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr6:71003879A>T	uc003pfg.4	-	4	846	c.687T>A	c.(685-687)gtT>gtA	p.V229V		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	229	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGGAACAGAAACTTGAGGAT	0.383000														92			23		0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50616159	50616159	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr12:50616159delT	uc001rwj.4	-	3	449	c.275delA	c.(274-276)aacfs	p.N92fs	LIMA1_uc001rwh.4_5'UTR|LIMA1_uc001rwi.4_5'UTR|LIMA1_uc001rwk.4_Frame_Shift_Del_p.N92fs|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	92					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGTGCTGCTGTTCCGTAGAGA	0.522													---	133	---	---	39	---					
LGALS3	3958	broad.mit.edu	37	14	55604098	55604100	+	In_Frame_Del	DEL	GAC	-	-			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr14:55604098_55604100delGAC	uc001xbr.3	+	1	95_97	c.7_9delGAC	c.(7-9)gacdel	p.D3del	LGALS3_uc021rtj.1_In_Frame_Del_p.D3del	NM_002306	NP_002297	P17931	LEG3_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 (LGALS3), transcript variant 1, mRNA.	3					RNA splicing|cell differentiation|innate immune response|mRNA processing	mitochondrial inner membrane|plasma membrane|spliceosomal complex	IgE binding|sugar binding			central_nervous_system(1)|endometrium(1)|prostate(1)	3						GAAAATGGCAGACAATTTTTCGG	0.384													---	93	---	---	17	---					
ANKRD30BP2	149992	broad.mit.edu	37	21	14439225	14439226	+	RNA	INS	-	A	A			TCGA-EB-A4IS-01A-21D-A25O-08	TCGA-EB-A4IS-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	DF965742-AF7A-4F45-B273-20A564C86430	7BF06178-FB1C-4F97-B228-2CE5BF1DAD71	g.chr21:14439225_14439226insA	uc002yja.4	+	9		c.2743_2744insA								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TATATTAAATGAAAAATTAGGG	0.287													---	3	---	---	3	---