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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FGL1	2267	broad.mit.edu	37	8	17743002	17743002	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:17743002G>A	ENST00000398056.2	-	4	877	c.63_splice	c.e4+1	p.S21_splice	FGL1_ENST00000522444.1_Splice_Site_p.S21_splice|FGL1_ENST00000381840.2_Splice_Site_p.S21_splice|FGL1_ENST00000518650.1_Splice_Site_p.S21_splice|FGL1_ENST00000398054.1_Splice_Site_p.S21_splice|FGL1_ENST00000427924.1_Splice_Site_p.S21_splice|FGL1_ENST00000381841.2_Splice_Site_p.S21_splice			Q08830	FGL1_HUMAN	fibrinogen-like 1	21					signal transduction	fibrinogen complex	receptor binding	p.S21L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		GAAGCTTACCGAAATTTCCCT	0.358000													11	44					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100701293	100701293	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:100701293C>T	ENST00000306151.4	+	13	13514	c.13450C>T	c.(13450-13452)Cag>Tag	p.Q4484*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4484						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)					GATCCGAATTCAGAGGCCTCA	0.483000													13	62					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686565	125686565	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:125686565C>G	ENST00000371126.1	-	1	269	c.27G>C	c.(25-27)agG>agC	p.R9S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	9										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTTTCCGTTTCCTGCTACCTG	0.721000													14	31					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201016272	201016272	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:201016272G>A	ENST00000362061.3	-	38	4865	c.4639C>T	c.(4639-4641)Cgg>Tgg	p.R1547W	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1528W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1547					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTCTTGGGCCGATAGCCATAA	0.517000													18	117					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74414498	74414498	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:74414498G>A	ENST00000376332.3	-	8	1294	c.798C>T	c.(796-798)caC>caT	p.H266H	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Silent_p.H266H	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	266	VWFC 3.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GGAAGGCCGGGTGCCACACCT	0.647000													12	12					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45454089	45454089	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:45454089G>A	ENST00000321429.4	+	31	4417	c.4010G>A	c.(4009-4011)cGg>cAg	p.R1337Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R1337Q|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.R983Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1337	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGCACATCCGGGCAGCAGGG	0.637000													6	42					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89206788	89206788	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:89206788C>T	ENST00000554922.1	-	5	902	c.654G>A	c.(652-654)ggG>ggA	p.G218G	EML5_ENST00000352093.5_Silent_p.G218G|EML5_ENST00000380664.5_Silent_p.G218G	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	218						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CATATATATCCCCATTGAGTG	0.393000													21	34					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18382265	18382265	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:18382265G>A	ENST00000441493.2	-	7	1249	c.897C>T	c.(895-897)ttC>ttT	p.F299F	MICAL3_ENST00000429452.1_Silent_p.F299F|MICAL3_ENST00000585038.1_Silent_p.F299F|MICAL3_ENST00000400561.2_Silent_p.F299F|MICAL3_ENST00000414725.2_Silent_p.F299F|MICAL3_ENST00000207726.7_Silent_p.F299F|MICAL3_ENST00000383094.3_Silent_p.F299F|MICAL3_ENST00000444520.1_Silent_p.F299F	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	299						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGTCATAACGAAATAGTGTG	0.413000													6	11					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113323217	113323217	+	Silent	SNP	A	A	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:113323217A>T	ENST00000297405.5	-	50	8119	c.7875T>A	c.(7873-7875)ccT>ccA	p.P2625P	CSMD3_ENST00000455883.2_Silent_p.P2521P|CSMD3_ENST00000352409.3_Silent_p.P2555P|CSMD3_ENST00000343508.3_Silent_p.P2585P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2625	Sushi 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTGACAGGCAGGGACTGGCG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	45					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43523192	43523192	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:43523192G>A	ENST00000401740.1	-	3	542	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S	PSG11_ENST00000320078.7_Missense_Mutation_p.P147S|PSG11_ENST00000403486.1_Missense_Mutation_p.P25S|PSG11_ENST00000306322.7_Missense_Mutation_p.P25S|PSG11_ENST00000595312.1_5'UTR			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	147	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GAGGGCTTGGGAGTCTCCACT	0.507000													87	85					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29054139	29054139	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:29054139G>A	ENST00000257189.4	+	15	2240	c.2157G>A	c.(2155-2157)atG>atA	p.M719I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	719					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTCAGGAATGGAAATGACCA	0.478000													16	57					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75875285	75875285	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:75875285G>A	ENST00000322507.8	-	14	3230	c.2921C>T	c.(2920-2922)tCa>tTa	p.S974L	COL12A1_ENST00000416123.2_Missense_Mutation_p.S974L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.S974L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	974	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGCAAATACTGAAATTCTGTA	0.423000													38	77					0	0	1	0	0
SURF6	6838	broad.mit.edu	37	9	136200572	136200572	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:136200572G>A	ENST00000372022.4	-	3	640	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	125						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		GGGCCTCCTGGATCTTCTCAT	0.637000													4	21					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85500321	85500321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:85500321G>A	ENST00000393217.2	+	15	3366	c.3305G>A	c.(3304-3306)tGg>tAg	p.W1102*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1102										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCCATAAAATGGTTTGATGCA	0.338000													21	57					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401113	10401113	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:10401113C>T	ENST00000226207.5	-	31	4397	c.4303G>A	c.(4303-4305)Gat>Aat	p.D1435N	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1435						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.D1435N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCTCAACATCAATCATGAGG	0.458000													4	89					0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64571809	64571809	+	Silent	SNP	G	G	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:64571809G>T	ENST00000337652.1	-	10	2348	c.1845C>A	c.(1843-1845)ctC>ctA	p.L615L	MEN1_ENST00000377321.1_Silent_p.L575L|MEN1_ENST00000377316.2_Silent_p.L555L|MEN1_ENST00000394376.1_Silent_p.L615L|MEN1_ENST00000394374.2_Silent_p.L615L|MEN1_ENST00000315422.4_Silent_p.L610L|MEN1_ENST00000443283.1_Silent_p.L615L|MEN1_ENST00000377313.1_Silent_p.L615L|MEN1_ENST00000377326.3_Silent_p.L610L|MEN1_ENST00000312049.6_Silent_p.L610L	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	615					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CAGTAGTTCAGAGGCCTTTGC	0.592000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				52	87					7.34454e-26	7.72865e-26	1	1	0
LRRN1	57633	broad.mit.edu	37	3	3886862	3886862	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:3886862G>A	ENST00000319331.3	+	2	1298	c.537G>A	c.(535-537)ttG>ttA	p.L179L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	179						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCAACAAATTGAAAGTTATTG	0.383000													23	70					0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40708539	40708539	+	Silent	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:40708539C>A	ENST00000249760.2	+	11	1459	c.1116C>A	c.(1114-1116)gcC>gcA	p.A372A	IVD_ENST00000479013.2_Silent_p.A345A|IVD_ENST00000487418.2_Silent_p.A375A	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	372					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CACAGGTAGCCCTGGACGGCA	0.607000													5	56					1.6384e-10	1.69719e-10	1	1	0
MARK1	4139	broad.mit.edu	37	1	220824054	220824054	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:220824054A>T	ENST00000402574.1	+	14	2160	c.1158A>T	c.(1156-1158)aaA>aaT	p.K386N	MARK1_ENST00000366917.4_Missense_Mutation_p.K521N|MARK1_ENST00000366918.4_Missense_Mutation_p.K499N	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	521					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGAATGGAAAAGACAGCAGGT	0.448000													17	95					0	0	1	0	0
DKKL1	27120	broad.mit.edu	37	19	49867985	49867985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:49867985C>T	ENST00000221498.2	+	2	562	c.157C>T	c.(157-159)Caa>Taa	p.Q53*	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	53					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		GAGCCTACTCCAAGGCTTCAG	0.577000													12	98					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233272030	233272030	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:233272030C>T	ENST00000295453.3	+	3	271	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	73					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CTGCCAGGATCCTAAAAGGGC	0.602000													10	68					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468480	74468480	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:74468480C>T	ENST00000249842.3	+	2	1638	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	ISLR_ENST00000395118.1_Silent_p.S427S|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	427					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TCCTCACCTCCTTCTAGCCCC	0.642000													11	44					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10877478	10877478	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:10877478A>G	ENST00000379491.4	-	2	385	c.238T>C	c.(238-240)Tcg>Ccg	p.S80P	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	80					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CCCAGGCACGACTTCTTGAGG	0.617000													33	62					0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18149839	18149839	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:18149839G>A	ENST00000375406.1	+	2	552	c.336G>A	c.(334-336)aaG>aaA	p.K112K		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	112						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGGACCGAAAGAAGATGCTGG	0.582000													8	39					0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116837244	116837244	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:116837244T>A	ENST00000265132.3	-	3	595	c.333A>T	c.(331-333)aaA>aaT	p.K111N		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	111					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACTTACTGGATTTGTGATAGA	0.433000													30	32					0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13248977	13248977	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:13248977C>T	ENST00000292431.4	+	6	1467	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	447	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCCAGAACTTCGCCCCCAACT	0.642000													4	162					0	0	1	0	0
GSTO2	119391	broad.mit.edu	37	10	106037800	106037800	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:106037800C>T	ENST00000450629.2	+	4	920	c.292C>T	c.(292-294)Cca>Tca	p.P98S	GSTO2_ENST00000401888.2_Missense_Mutation_p.P98S|GSTO2_ENST00000429569.2_Missense_Mutation_p.P70S|GSTO2_ENST00000338595.2_Missense_Mutation_p.P98S|GSTO2_ENST00000369707.1_Missense_Mutation_p.P70S|GSTO2_ENST00000477078.2_3'UTR	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	98	GST N-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGATGCTTATCCAGGAAGGAA	0.408000													17	19					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74124036	74124036	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:74124036T>C	ENST00000358602.4	-	1	466	c.350A>G	c.(349-351)gAg>gGg	p.E117G	ANKRD17_ENST00000330838.6_Missense_Mutation_p.E117G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	117					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTCTTCTTCCTCGCTGTTGTT	0.642000													6	148					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128199961	128199961	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:128199961G>A	ENST00000341105.2	-	6	1675	c.1344C>T	c.(1342-1344)caC>caT	p.H448H	GATA2_ENST00000430265.2_Silent_p.H434H|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.H448H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	448					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TGTGTCCGGAGTGGCTGAAGG	0.657000			Mis		AML(CML blast transformation)								60	68					0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48110143	48110143	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:48110143G>A	ENST00000422538.3	-	6	813	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	ENDOU_ENST00000545824.2_Missense_Mutation_p.L168F|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000542202.1_5'UTR|ENDOU_ENST00000229003.3_Missense_Mutation_p.L190F	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	231					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						ATCTCTCTGAGGAAGGCGTCC	0.582000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	114					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25928525	25928525	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:25928525G>A	ENST00000356865.6	-	17	3511	c.3400C>T	c.(3400-3402)Ccc>Tcc	p.P1134S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1134					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACGAGCGGGGGAAGTGACGAG	0.522000													18	31					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200967693	200967693	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:200967693G>A	ENST00000332129.2	-	14	2212	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	KIF21B_ENST00000360529.5_Silent_p.F632F|KIF21B_ENST00000422435.2_Silent_p.F632F|KIF21B_ENST00000461742.2_Silent_p.F632F	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	632					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGTCCGCCTGGAAGTTCACCT	0.612000													24	43					0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45059938	45059938	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:45059938C>T	ENST00000398000.2	-	1	208	c.134G>A	c.(133-135)aGa>aAa	p.R45K	RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.R45K|RP11-342D14.1_ENST00000438181.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	45						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						GTAGCTGGTTCTGACTTGGGG	0.502000													7	25					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75277247	75277247	+	Silent	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:75277247C>A	ENST00000339859.4	-	19	3037	c.2937G>T	c.(2935-2937)ggG>ggT	p.G979G	USP54_ENST00000408019.1_Silent_p.G979G|USP54_ENST00000428547.1_Silent_p.G829G|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Silent_p.G161G|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000394811.2_Silent_p.G67G			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	979					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TCTCAGTCCACCCTGGTGCTT	0.512000													3	37					0.115264	0.115438	1	1	0
NBEAP1	606	broad.mit.edu	37	15	20876534	20876534	+	RNA	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:20876534C>A	ENST00000556948.1	-	0	66																											GATAAACCATCAAGGTATTTT	0.353000													5	52					0.014758	0.014825	1	1	0
PGAP3	93210	broad.mit.edu	37	17	37844120	37844120	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:37844120G>A	ENST00000300658.4	-	1	240	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	PGAP3_ENST00000579146.1_Missense_Mutation_p.R50C|PGAP3_ENST00000378011.4_Missense_Mutation_p.R50C|PGAP3_ENST00000429199.2_Missense_Mutation_p.R50C	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	50					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TGGCGGGAGCGGAAGTGATTC	0.657000													4	1					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91681796	91681796	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:91681796C>T	ENST00000518868.1	+	16	2302	c.1612C>T	c.(1612-1614)Ctg>Ttg	p.L538L	C14orf159_ENST00000525393.2_Silent_p.L409L|C14orf159_ENST00000523816.1_Silent_p.L533L|C14orf159_ENST00000523771.1_Silent_p.L533L|C14orf159_ENST00000522322.1_Silent_p.L533L|C14orf159_ENST00000520328.1_Silent_p.L481L|C14orf159_ENST00000521077.2_Silent_p.L498L|C14orf159_ENST00000256324.10_Silent_p.L538L|C14orf159_ENST00000412671.2_Silent_p.L538L|C14orf159_ENST00000428926.2_Silent_p.L533L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	533						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		ACTCTACATCCTGTACTCATG	0.542000													25	59					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53975665	53975665	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:53975665G>A	ENST00000312233.2	-	8	1960	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	465	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CCCCTTCAGGGGGCTGACTAT	0.692000													5	9					0	0	1	0	0
SGK494	124923	broad.mit.edu	37	17	26938429	26938429	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:26938429G>A	ENST00000301037.5	-	10	881	c.882C>T	c.(880-882)ttC>ttT	p.F294F	RP11-192H23.4_ENST00000577790.1_Intron|RP11-192H23.4_ENST00000534850.1_3'UTR|SPAG5-AS1_ENST00000554154.1_RNA	NM_001174103.1	NP_001167574.1																					TCGCCAGAGAGAAAAGCAAGA	0.488000													9	12					0	0	1	0	0
FGF8	2253	broad.mit.edu	37	10	103530212	103530212	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:103530212G>A	ENST00000347978.2	-	5	691	c.522C>T	c.(520-522)ttC>ttT	p.F174F	FGF8_ENST00000344255.3_Silent_p.F192F|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000320185.2_Silent_p.F203F|FGF8_ENST00000346714.3_Silent_p.F163F	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	192					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GCCGCTTCATGAAGTGGACCT	0.672000													6	13					0	0	1	0	0
RAD51C	5889	broad.mit.edu	37	17	56811485	56811485	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:56811485G>A	ENST00000337432.4	+	9	1104	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R		NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	345					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAGCCTCAGGGATTTAGAGA	0.343000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				11	3					0	0	1	0	0
BAG4	9530	broad.mit.edu	37	8	38065264	38065264	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:38065264C>T	ENST00000287322.4	+	3	884	c.613C>T	c.(613-615)Cca>Tca	p.P205S	BAG4_ENST00000432471.2_Missense_Mutation_p.P169S	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	205					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	p.P205S(1)		breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GGGGCAGGTTCCAGGATATCC	0.478000													9	41					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90342782	90342782	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:90342782C>T	ENST00000300060.6	-	13	2141	c.1828G>A	c.(1828-1830)Gat>Aat	p.D610N	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	610	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CTGAAGAGATCGTTCTGGGCT	0.592000													49	95					0	0	1	0	0
DSCR10	259234	broad.mit.edu	37	21	39580279	39580279	+	RNA	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr21:39580279G>A	ENST00000432141.1	+	0	401					NR_027695.1																						ATTGTGCAGGGGTTCCCTGCG	0.512000													11	46					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41601665	41601665	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:41601665G>A	ENST00000330436.3	+	9	1304	c.1303_splice	c.e9-1	p.G435_splice		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	435					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TCCTCCTCAGGAAAGCGGTAC	0.577000													12	93					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73989171	73989171	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:73989171G>A	ENST00000553558.1	-	3	1007	c.686C>T	c.(685-687)tCc>tTc	p.S229F	HEATR4_ENST00000560393.1_Missense_Mutation_p.S182F|HEATR4_ENST00000334988.2_Missense_Mutation_p.S229F	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CTTGTTGGGGGATGCCCCAGG	0.607000													22	41					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57600439	57600439	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:57600439C>T	ENST00000243077.3	+	76	12240	c.11774C>T	c.(11773-11775)tCc>tTc	p.S3925F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3925					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCACCATCTCCTACCGCAGC	0.607000													26	55					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170127589	170127589	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:170127589G>A	ENST00000263816.3	-	16	2430	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	715					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGCAACTTGGGATGAAAAAA	0.433000													12	33					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107688540	107688540	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:107688540C>T	ENST00000388781.3	-	28	4222	c.4139G>A	c.(4138-4140)gGa>gAa	p.G1380E	LAMB4_ENST00000388780.3_Missense_Mutation_p.G1380E|LAMB4_ENST00000205386.4_Missense_Mutation_p.G1380E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1380	Domain alpha.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGGCACATTTCCTGGATCTCC	0.502000													36	113					0	0	1	0	0
ZNF724P	440519	broad.mit.edu	37	19	23415043	23415043	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:23415043T>C	ENST00000418100.1	-	2	173	c.56A>G	c.(55-57)cAa>cGa	p.Q19R	ZNF724P_ENST00000597037.1_Missense_Mutation_p.Q19R																endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GTCCAGGCATTGCCACTCCTC	0.423000													27	121					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263791	140263791	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:140263791C>T	ENST00000289272.2	+	1	1938	c.1938C>T	c.(1936-1938)cgC>cgT	p.R646R	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.R646R|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCACCACCGCCTTCTGGTGC	0.706000													12	63					0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31541284	31541284	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:31541284C>T	ENST00000454783.1	+	4	690	c.432C>T	c.(430-432)ttC>ttT	p.F144F	LTA_ENST00000418386.2_Silent_p.F144F	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	144					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	AGTACCCCTTCCATGTGCCTC	0.617000													55	120					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87017853	87017853	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:87017853G>A	ENST00000398399.2	-	3	1187	c.824C>T	c.(823-825)cCc>cTc	p.P275L	VGLL3_ENST00000383698.3_Missense_Mutation_p.P275L	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GTCACACTGGGGAGCAGGAAT	0.562000													3	31					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207620021	207620021	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:207620021C>T	ENST00000374412.3	-	5	897	c.622G>A	c.(622-624)Gcc>Acc	p.A208T	MDH1B_ENST00000454776.2_Missense_Mutation_p.A208T|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.A110T	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	208					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ATGACGTGGGCCTGGCGGAAG	0.587000													9	28					0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46077965	46077965	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr21:46077965C>T	ENST00000397907.1	+	1	117	c.69C>T	c.(67-69)tcC>tcT	p.S23S	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	23	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCAGGCATCCTGCTATGTGC	0.672000													62	114					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325930	158325930	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:158325930G>A	ENST00000434258.1	+	4	944	c.933G>A	c.(931-933)atG>atA	p.M311I	CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000452291.2_Intron			P15812	CD1E_HUMAN	CD1e molecule	0					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGGAAATAATGAAAATAGCCC	0.488000													17	34					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958627	121958627	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:121958627G>A	ENST00000379692.4	-	4	1025	c.499C>T	c.(499-501)Cca>Tca	p.P167S	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	167										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCAGATTCTGGAGTTGTGGTG	0.463000													29	82					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103092762	103092762	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:103092762C>T	ENST00000375735.2	+	58	9255	c.9111C>T	c.(9109-9111)ttC>ttT	p.F3037F	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.F3037F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3037	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATTTTAGTTTCCTTGCAAAAA	0.284000													7	14					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124358208	124358208	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:124358208C>T	ENST00000409039.3	+	45	7560	c.7535C>T	c.(7534-7536)cCc>cTc	p.P2512L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2512	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TACGGCCCACCCATGGGAAAA	0.483000													4	14					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124646490	124646490	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:124646490G>A	ENST00000311075.3	-	2	438	c.400C>T	c.(400-402)Cct>Tct	p.P134S		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	134	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTTTCAGAAGGAACCATTGTG	0.443000													18	251					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239262	3239262	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:3239262C>T	ENST00000217939.6	-	5	4618	c.4464G>A	c.(4462-4464)atG>atA	p.M1488I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1488						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGCTCCTTCATCCGGGCAG	0.493000													11	29					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39650382	39650382	+	Missense_Mutation	SNP	C	C	G	rs1065618		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:39650382C>G	ENST00000216832.4	+	9	1536	c.1469C>G	c.(1468-1470)tCc>tGc	p.S490C	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	490	Gln-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		caatcccagtcccaaccAGTA	0.517000													9	43					0	0	1	0	0
GPR137C	283554	broad.mit.edu	37	14	53100254	53100254	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:53100254G>A	ENST00000321662.6	+	5	874	c.874G>A	c.(874-876)Gta>Ata	p.V292I		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	292						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					ACAGGCTCATGTAGAAGACAT	0.398000													19	28					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179610611	179610611	+	Missense_Mutation	SNP	C	C	T	rs148430495	byFrequency	TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:179610611C>T	ENST00000360870.5	-	46	16738	c.16516G>A	c.(16516-16518)Gaa>Aaa	p.E5506K	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8982	Ig-like 36.						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)			ACCTGAAATTCAAAAAAACTG	0.383000													22	108					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40073418	40073418	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:40073418A>C	ENST00000336649.4	+	33	4945	c.4945A>C	c.(4945-4947)Aag>Cag	p.K1649Q	CACNA1I_ENST00000401624.1_Missense_Mutation_p.K1643Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.K1608Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.K1608Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.K1608Q|CACNA1I_ENST00000402142.3_Missense_Mutation_p.K1643Q			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1643					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTCTTTGGGAAGCTGGGTGA	0.672000													4	17					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133785973	133785973	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:133785973A>C	ENST00000367895.5	+	10	1245	c.781A>C	c.(781-783)Acg>Ccg	p.T261P	EYA4_ENST00000431403.2_Missense_Mutation_p.T261P|EYA4_ENST00000355167.3_Missense_Mutation_p.T261P|EYA4_ENST00000430974.2_Missense_Mutation_p.T207P|EYA4_ENST00000531901.1_Missense_Mutation_p.T261P|EYA4_ENST00000355286.6_Missense_Mutation_p.T238P|EYA4_ENST00000452339.2_Missense_Mutation_p.T207P|EYA4_ENST00000525849.1_Missense_Mutation_p.T238P	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	261					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTCCAATTCAACGAATTTCAG	0.303000													6	18					0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157820545	157820545	+	Silent	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:157820545A>G	ENST00000490689.2	-	2	1623	c.90T>C	c.(88-90)ttT>ttC	p.F30F	SHOX2_ENST00000441443.2_Silent_p.F30F|SHOX2_ENST00000483851.2_Silent_p.F159F|SHOX2_ENST00000425436.3_Silent_p.F159F|SHOX2_ENST00000389589.4_Silent_p.F183F|SHOX2_ENST00000554685.1_5'UTR			O60902	SHOX2_HUMAN	short stature homeobox 2	159					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GGGTCTCGTCAAAAAGCCTCT	0.582000													8	109					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224842293	224842293	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:224842293G>A	ENST00000409840.3	-	9	1784	c.1124C>T	c.(1123-1125)cCt>cTt	p.P375L	SERPINE2_ENST00000409304.1_Missense_Mutation_p.P375L|SERPINE2_ENST00000447280.2_Missense_Mutation_p.P387L|SERPINE2_ENST00000258405.4_Missense_Mutation_p.P376L			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	376					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAACAGAAAAGGTCTGTCTAC	0.408000													20	137					0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460494	1460494	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:1460494C>T	ENST00000359801.3	-	2	338	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	101	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCTGATGTCCGTTGGATCAT	0.448000													18	72					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088123	57088123	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:57088123A>G	ENST00000330619.8	+	6	1012	c.326A>G	c.(325-327)cAg>cGg	p.Q109R	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.Q109R	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCTTTAAACCAGGATATTTAT	0.323000													4	58					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43936803	43936803	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:43936803C>T	ENST00000343694.3	+	2	115	c.43C>T	c.(43-45)Cct>Tct	p.P15S	MATN4_ENST00000537548.1_Intron|RBPJL_ENST00000372741.3_Missense_Mutation_p.P15S|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000342716.4_Intron|MATN4_ENST00000360607.5_Intron|RBPJL_ENST00000372743.1_Missense_Mutation_p.P15S	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	15					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCCTCCCAATCCTTTGACTCA	0.602000													28	82					0	0	1	0	0
MIOX	55586	broad.mit.edu	37	22	50926457	50926457	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:50926457G>A	ENST00000395732.3	+	4	342	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	MIOX_ENST00000395733.3_Missense_Mutation_p.R107Q|MIOX_ENST00000216075.6_Missense_Mutation_p.R107Q			Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	107					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGGCATCCGGAAGGCCCAC	0.652000													24	42					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123239527	123239527	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:123239527C>T	ENST00000358487.5	-	18	2582	c.2310G>A	c.(2308-2310)ttG>ttA	p.L770L	FGFR2_ENST00000369061.4_Silent_p.L658L|FGFR2_ENST00000457416.2_Silent_p.L771L|FGFR2_ENST00000369059.1_Silent_p.L656L|FGFR2_ENST00000478859.1_Silent_p.L542L|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000356226.4_Silent_p.L653L|FGFR2_ENST00000369060.4_Silent_p.L654L|FGFR2_ENST00000346997.2_Silent_p.L768L	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	770	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGCTGAGGTCCAAGTATTCCT	0.448000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				22	102					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168278023	168278023	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:168278023G>A	ENST00000367821.3	+	7	1011	c.960G>A	c.(958-960)tcG>tcA	p.S320S	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	320					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					AAGTTTTCTCGGGACCTGACA	0.463000													25	77					0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142399728	142399728	+	Silent	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:142399728A>G	ENST00000258042.1	-	2	875	c.735T>C	c.(733-735)aaT>aaC	p.N245N		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	245					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CTCCAGGAAGATTGTGTGCGC	0.353000													9	26					0	0	1	0	0
PRPF38A	84950	broad.mit.edu	37	1	52879611	52879611	+	Missense_Mutation	SNP	C	C	T	rs142879021		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:52879611C>T	ENST00000257181.9	+	6	856	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	224	Arg-rich.				mRNA processing|RNA splicing	spliceosomal complex				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GGACAAGCCCCGTCGCTCTCC	0.532000													7	39					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934665	30934665	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:30934665G>A	ENST00000355537.3	+	2	343	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATCCCTGGAGGAGAAGGCCCA	0.682000													15	86					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599955	29599955	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:29599955G>A	ENST00000431530.3	+	1	1208	c.1150G>A	c.(1150-1152)Gga>Aga	p.G384R		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	374						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTTGGGGTGGGAAGAGGCAA	0.592000													15	21					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58298965	58298965	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:58298965G>A	ENST00000377918.3	+	4	3043	c.3017G>A	c.(3016-3018)cGa>cAa	p.R1006Q		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1006					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AAAGACAAGCGAGAGCACACT	0.448000													13	57					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113847728	113847728	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:113847728G>A	ENST00000383673.2	-	7	1468	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	DRD3_ENST00000295881.7_Silent_p.F313F|DRD3_ENST00000460779.1_Silent_p.F346F|DRD3_ENST00000467632.1_Silent_p.F346F	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	346	Agonist binding.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	CATGGGTCAAGAAGAAGGGCA	0.498000													53	164					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117139581	117139581	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:117139581C>T	ENST00000307564.4	-	3	667	c.506G>A	c.(505-507)aGg>aAg	p.R169K	AKNA_ENST00000312033.3_Missense_Mutation_p.R169K|AKNA_ENST00000374075.5_Missense_Mutation_p.R88K|AKNA_ENST00000374088.3_Missense_Mutation_p.R169K	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CACCCAGCCCCTGGCCTGACC	0.597000													19	59					0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11870214	11870214	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:11870214G>A	ENST00000396516.2	-	6	744	c.546_splice	c.e6-1	p.L183_splice	ZC3H7A_ENST00000575170.1_5'UTR|ZC3H7A_ENST00000355758.4_Splice_Site_p.L183_splice			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	183						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TTTAATGAGAGCTGAAATAAA	0.338000													17	90					0	0	1	0	0
DEK	7913	broad.mit.edu	37	6	18258628	18258628	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:18258628G>A	ENST00000397239.3	-	3	601	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F	DEK_ENST00000244776.7_Intron	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	52					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TCCACGATGAGACTCTTTTCT	0.328000			T	NUP214	AML								24	63					0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29781274	29781274	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:29781274G>A	ENST00000434693.2	+	5	1160	c.460G>A	c.(460-462)Gag>Aag	p.E154K	RBMS3_ENST00000383766.2_Missense_Mutation_p.E154K|RBMS3_ENST00000383767.2_Missense_Mutation_p.E155K|RBMS3_ENST00000396583.3_Missense_Mutation_p.E155K|RBMS3_ENST00000452462.1_Missense_Mutation_p.E155K|RBMS3_ENST00000445033.1_Missense_Mutation_p.E155K|RBMS3_ENST00000273139.9_Missense_Mutation_p.E155K|RBMS3_ENST00000456853.1_Missense_Mutation_p.E155K	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	155	RRM 2.					cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GGATGAGCAGGAGCTTGAGAA	0.418000													26	138					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3756225	3756225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:3756225C>A	ENST00000378230.3	-	7	1006	c.682G>T	c.(682-684)Gaa>Taa	p.E228*		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	228						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TCATAGCGTTCCTTTTGGACA	0.383000													14	129					4.93089e-13	5.12381e-13	1	1	0
SLC5A5	6528	broad.mit.edu	37	19	17985483	17985483	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:17985483G>A	ENST00000222248.3	+	4	833	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	162					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGACCGGGCTGGACATCTGGG	0.607000													8	36					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50734115	50734115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:50734115C>T	ENST00000442544.2	+	11	2405	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	DCC_ENST00000412726.1_Nonsense_Mutation_p.R445*|DCC_ENST00000581580.1_Nonsense_Mutation_p.R252*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	597	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATATAGTCTTCGATTCTTAGC	0.373000													17	54					0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83754240	83754240	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:83754240G>A	ENST00000369747.3	-	4	626	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	168						cytoplasm	ligase activity										AATTCACCAAGAAGAAAGAGT	0.418000													14	94					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323915	152323915	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:152323915C>T	ENST00000388718.5	-	3	6419	c.6347G>A	c.(6346-6348)gGg>gAg	p.G2116E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2116							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTGAGACCCCTGAGTGCAC	0.532000													76	509					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572412	38572412	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:38572412C>T	ENST00000222345.6	+	3	716	c.207C>T	c.(205-207)ccC>ccT	p.P69P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	69					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCCCAGCCCCACCACTCCCG	0.716000													5	18					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5587889	5587889	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:5587889G>A	ENST00000252542.4	-	19	2892	c.2628C>T	c.(2626-2628)gcC>gcT	p.A876A		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	876	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTTGCCACCTGGCGTGCTCCC	0.687000													5	25					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65874423	65874423	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:65874423G>A	ENST00000395325.3	+	17	2577	c.2420G>A	c.(2419-2421)aGa>aAa	p.R807K	DNAJC6_ENST00000371069.4_Missense_Mutation_p.R864K|DNAJC6_ENST00000263441.7_Missense_Mutation_p.R794K	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	807					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GCTGAGATGAGAAAGGAGGAA	0.433000													16	33					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166306	206166306	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:206166306G>A	ENST00000406610.2	+	18	2718	c.2511G>A	c.(2509-2511)acG>acA	p.T837T	PARD3B_ENST00000351153.1_Silent_p.T768T|PARD3B_ENST00000358768.2_Silent_p.T775T|PARD3B_ENST00000349953.3_Silent_p.T837T|PARD3B_ENST00000462231.1_Silent_p.T837T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	837	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCAAAAAAACgaaagagaagg	0.433000													13	57					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207422	58207422	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:58207422T>C	ENST00000377918.3	+	1	768	c.742T>C	c.(742-744)Tac>Cac	p.Y248H		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	248	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGCGCCATCCTACTTGGTGGA	0.597000													8	54					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966806	39966806	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:39966806G>A	ENST00000336649.4	+	1	49	c.49G>A	c.(49-51)Gct>Act	p.A17T	CACNA1I_ENST00000401624.1_Missense_Mutation_p.A17T|CACNA1I_ENST00000400164.3_Missense_Mutation_p.A17T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A17T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A17T|CACNA1I_ENST00000402142.3_Missense_Mutation_p.A17T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	17					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AGCCCCAGCCGCTGAGCCAGG	0.692000													23	31					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155448478	155448478	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:155448478G>A	ENST00000368346.3	-	3	4822	c.4183C>T	c.(4183-4185)Ccc>Tcc	p.P1395S	ASH1L_ENST00000392403.3_Missense_Mutation_p.P1395S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1395	Pro-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AATCCTATGGGAGCAGCTGTA	0.453000													18	68					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153585864	153585864	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:153585864G>A	ENST00000422373.1	-	29	5131	c.4883C>T	c.(4882-4884)cCc>cTc	p.P1628L	FLNA_ENST00000369850.3_Missense_Mutation_p.P1628L|FLNA_ENST00000344736.4_Missense_Mutation_p.P1628L|FLNA_ENST00000360319.4_Missense_Mutation_p.P1628L|FLNA_ENST00000369856.3_5'UTR	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1628					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGGGAGAAGGGGATCTCGTC	0.642000													15	12					0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72459431	72459431	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:72459431C>T	ENST00000309731.7	-	6	388	c.375G>A	c.(373-375)gtG>gtA	p.V125V		NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	125	GRAM.					integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CAGGAATGACCACCTGAGAGG	0.567000													12	38					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235435	8235435	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:8235435C>T	ENST00000520004.1	-	3	748	c.484G>A	c.(484-486)Gtc>Atc	p.V162I	SGK223_ENST00000330777.4_Missense_Mutation_p.V162I			Q86YV5	SG223_HUMAN		162							ATP binding|non-membrane spanning protein tyrosine kinase activity										TGCAGGCCGACCATGGTGTAA	0.602000													23	69					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3005129	3005129	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:3005129C>T	ENST00000216877.6	+	16	1849	c.1449C>T	c.(1447-1449)gtC>gtT	p.V483V	PTPRA_ENST00000358719.4_Silent_p.V348V|PTPRA_ENST00000356147.3_Silent_p.V483V|PTPRA_ENST00000318266.5_Silent_p.V483V|PTPRA_ENST00000399903.2_Silent_p.V492V|PTPRA_ENST00000425918.2_Silent_p.V503V|PTPRA_ENST00000380393.3_Silent_p.V492V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	492	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGCAGTATGTCTTCATATACC	0.428000													28	162					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428441	57428441	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:57428441G>A	ENST00000371100.4	+	1	673	c.121G>A	c.(121-123)Gct>Act	p.A41T	GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A41T|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.A41T|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGCCCCCGGTGCTGGGCCTAG	0.632000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			4	5					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98145939	98145939	+	Missense_Mutation	SNP	C	C	T	rs61738801	byFrequency	TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:98145939C>T	ENST00000357947.3	-	15	2111	c.1886G>A	c.(1885-1887)gGa>gAa	p.G629E		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	629	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GGTGATGGTTCCATTCAGCTT	0.547000													33	60					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228504556	228504556	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:228504556A>T	ENST00000570156.2	+	62	16377	c.16303A>T	c.(16303-16305)Agc>Tgc	p.S5435C	OBSCN_ENST00000366709.4_Missense_Mutation_p.S1597C|OBSCN_ENST00000284548.11_Missense_Mutation_p.S4478C|OBSCN_ENST00000422127.1_Missense_Mutation_p.S4478C|OBSCN_ENST00000366707.4_Missense_Mutation_p.S2112C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4478	Ig-like 51.				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	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor 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)				GCCGGATGACAGCGACTGGAC	0.706000													4	9					0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135926235	135926235	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:135926235C>G	ENST00000372097.5	+	4	961	c.638C>G	c.(637-639)cCc>cGc	p.P213R	GTF3C5_ENST00000372108.5_Missense_Mutation_p.P213R|GTF3C5_ENST00000342018.8_Missense_Mutation_p.P213R|GTF3C5_ENST00000372095.5_Missense_Mutation_p.P88R|GTF3C5_ENST00000372099.6_Missense_Mutation_p.P204R	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	213						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GCCCGGCGCCCCCACAATGCC	0.592000													13	90					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551573	1551573	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:1551573G>A	ENST00000381605.4	-	4	1026	c.962C>T	c.(961-963)gCc>gTc	p.A321V	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	321	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTCCCTGTGGGCACAGGTGTT	0.552000													22	127					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100092778	100092778	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:100092778A>G	ENST00000375202.2	+	32	3487	c.2135A>G	c.(2134-2136)gAg>gGg	p.E712G	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.E851G|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.E712G|CCDC180_ENST00000411667.2_Missense_Mutation_p.E709G|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180																		ATAACTGAAGAGGTGCTGGGG	0.453000													6	40					0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52469189	52469189	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:52469189G>A	ENST00000243644.4	-	5	744	c.517C>T	c.(517-519)Cat>Tat	p.H173Y	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	173					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		ATTGCAGTATGAAGTCGTTCA	0.378000													51	59					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413237	72413237	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:72413237C>T	ENST00000395270.1	+	14	2951	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F	POM121_ENST00000257622.4_Missense_Mutation_p.S637F|POM121_ENST00000446813.1_Missense_Mutation_p.S637F|POM121_ENST00000358357.3_Missense_Mutation_p.S637F|POM121_ENST00000434423.2_Missense_Mutation_p.S902F	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	902	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTCAGCCAGTCCCTGCACACT	0.647000													72	234					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2438167	2438167	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:2438167G>A	ENST00000325327.3	-	4	740	c.678C>T	c.(676-678)ttC>ttT	p.F226F	LMNB2_ENST00000582871.1_Silent_p.F206F			Q03252	LMNB2_HUMAN	lamin B2	206	Linker 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		TCACCTCCTCGAACACACTCT	0.627000													18	81					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38828377	38828377	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:38828377C>T	ENST00000359357.3	+	41	5706	c.5452C>T	c.(5452-5454)Cgt>Tgt	p.R1818C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R2035C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1818C					dynein, axonemal, heavy chain 8											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						ATGTACTGATCGTCTTGTTAT	0.289000													6	15					0	0	1	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452777	106452777	+	RNA	SNP	T	T	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:106452777T>G	ENST00000390594.2	-	0	308																											GCCCTGAAACTTCTGTGCATA	0.557000													5	166					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19058518	19058518	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:19058518C>T	ENST00000421369.3	+	12	1915	c.1357C>T	c.(1357-1359)Ctt>Ttt	p.L453F	TMC7_ENST00000304381.5_Missense_Mutation_p.L563F|TMC7_ENST00000569532.1_Missense_Mutation_p.L563F	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	563						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTTCTCACCCCTTCTCCCTGC	0.502000													80	321					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989977	47989977	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:47989977C>T	ENST00000371741.4	-	2	2286	c.2120G>A	c.(2119-2121)gGa>gAa	p.G707E		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	707					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACACTCCAGTCCAGCGACAGC	0.597000													13	59					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220955194	220955194	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:220955194A>G	ENST00000366913.3	+	7	1157	c.959A>G	c.(958-960)gAa>gGa	p.E320G	MARC2_ENST00000359316.2_Intron|MARC2_ENST00000472447.1_3'UTR	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	320	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										TATTCAGTGGAAAAAATTGGA	0.433000													4	171					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			71	78					1.38705e-31	1.46191e-31	1	1	0
IL1RL1	9173	broad.mit.edu	37	2	102965706	102965706	+	Splice_Site	SNP	G	G	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:102965706G>T	ENST00000233954.1	+	10	1556	c.1285_splice	c.e10+1	p.D429_splice		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	429	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ACCTGGAGAAGGTAAAGCTAT	0.388000													14	55					1.15088e-07	1.18112e-07	1	1	0
DEFB124	245937	broad.mit.edu	37	20	30060796	30060796	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:30060796G>A	ENST00000317676.2	-	1	20	c.21C>T	c.(19-21)ttC>ttT	p.F7F	DEFB124_ENST00000481595.1_5'UTR	NM_001037500.1	NP_001032589.1	Q8NES8	DB124_HUMAN	defensin, beta 124	7					defense response to bacterium	extracellular region						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GAGCCACAAGGAACAGAAGCA	0.562000													9	72					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420865	11420865	+	RNA	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:11420865T>C	ENST00000381842.3	-	0	355				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			ACTGGTTTCCTCCTTGTGGGG	0.632000													43	524					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126715037	126715037	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:126715037G>A	ENST00000309035.6	-	1	1422	c.1292C>T	c.(1291-1293)cCa>cTa	p.P431L	CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGGGAAGTGTGGGGCATGGGT	0.687000													7	17					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891239	18891239	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:18891239A>T	ENST00000317658.3	+	1	195	c.37A>T	c.(37-39)Aga>Tga	p.R13*		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	13					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GGACAAGGAAAGAGTAATTCG	0.428000													5	86					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38928152	38928152	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:38928152G>A	ENST00000335552.4	-	1	262	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	72	Gly-rich.|Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TCATTGCCAAGAAAACCAGCA	0.522000													19	106					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828935	125828935	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:125828935C>T	ENST00000393434.2	-	20	2548	c.2199G>A	c.(2197-2199)aaG>aaA	p.K733K	ALDH1L1_ENST00000472186.1_Silent_p.K733K|ALDH1L1_ENST00000452905.2_Silent_p.K632K|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.K743K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	733	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCACCTTCATCTTCCGCACCT	0.572000													11	103					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760770	92760770	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:92760770G>A	ENST00000318238.4	-	5	5731	c.4515C>T	c.(4513-4515)tcC>tcT	p.S1505S	SAMD9L_ENST00000437805.1_Silent_p.S1505S|SAMD9L_ENST00000411955.1_Silent_p.S1505S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1505										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTGCCAGAGGGAATTTGTAT	0.423000													12	80					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632481	122632481	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:122632481G>A	ENST00000195173.4	-	16	2483	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F	SEMA5B_ENST00000357599.3_Missense_Mutation_p.S727F|SEMA5B_ENST00000451055.2_Missense_Mutation_p.S781F			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	727	TSP type-1 2.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGAGCCCCAGGAAGCCCAGAA	0.672000													13	22					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137620554	137620554	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:137620554C>T	ENST00000371817.3	+	6	1239	c.825C>T	c.(823-825)taC>taT	p.Y275Y		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	275	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTATTACTACGAATACCCCT	0.607000													56	114					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57351007	57351007	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:57351007C>T	ENST00000398138.3	-	1	1096	c.240G>A	c.(238-240)gtG>gtA	p.V80V	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	80					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CATCCAGGGTCACCGTCTCCA	0.592000													65	77					0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110250264	110250264	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:110250264C>T	ENST00000374672.4	-	3	884	c.411G>A	c.(409-411)tcG>tcA	p.S137S		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	137	Ser-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGCCGCTGCTCGACGGCGACG	0.697000													5	11					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75597248	75597248	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:75597248C>T	ENST00000502798.2	+	12	2320	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Silent_p.F626F	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	626					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCTGTTTCTTCCTTTGGTTCG	0.483000													29	111					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996183	19996183	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:19996183G>A	ENST00000391403.2	-	1	1695	c.1592C>T	c.(1591-1593)cCa>cTa	p.P531L		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	531						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)					AGGATTCCCTGGGCCTCTGGA	0.532000													28	141					0	0	1	0	0
CCDC134	79879	broad.mit.edu	37	22	42209358	42209358	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:42209358C>T	ENST00000255784.5	+	5	505	c.401C>T	c.(400-402)tCc>tTc	p.S134F	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	134						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						GACCACAACTCCAACTGGAAC	0.577000													30	95					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54403646	54403646	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:54403646G>A	ENST00000566473.2	+	3	127	c.127G>A	c.(127-129)Gat>Aat	p.D43N	ANKFN1_ENST00000318698.2_Missense_Mutation_p.D43N			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	43										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAGCCAATGTGATTTATTGAA	0.408000													46	20					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813005	176813005	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:176813005G>A	ENST00000324417.5	+	3	218	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	SLC34A1_ENST00000512593.1_Missense_Mutation_p.G43R	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	43					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGATCCCGGGGACCTCTGC	0.687000													6	72					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66325257	66325257	+	RNA	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:66325257G>A	ENST00000502692.1	+	0	1230				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CAAACTAGAGGACTTTCGGGA	0.602000													7	11					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5653155	5653155	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:5653155C>T	ENST00000292123.5	+	10	1430	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	SAFB_ENST00000454510.1_Silent_p.A372A|SAFB_ENST00000588852.1_Silent_p.A441A|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000592224.1_Silent_p.A441A|SAFB_ENST00000538656.1_Silent_p.A284A|SAFB_ENST00000433404.1_Silent_p.A271A	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	441	RRM.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TGACAAATGCCCGGAGTCCTG	0.542000													6	43					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999656	46999656	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:46999656C>T	ENST00000374314.4	+	1	1731	c.776C>T	c.(775-777)cCc>cTc	p.P259L	GPRIN2_ENST00000374317.1_Missense_Mutation_p.P259L			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	259										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTGGCCTTTCCCAAACTAGTG	0.622000													15	140					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903346	4903346	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:4903346C>A	ENST00000380378.1	+	1	298	c.298C>A	c.(298-300)Cta>Ata	p.L100I	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.L73I|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTGTTGATCTATGTCTGAC	0.448000													7	43					4.68919e-08	4.81985e-08	1	1	0
GCC2	9648	broad.mit.edu	37	2	109088547	109088547	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:109088547G>A	ENST00000309863.6	+	6	3476	c.2762G>A	c.(2761-2763)aGg>aAg	p.R921K		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	921					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTACGAGATAGGAGAGCAGAG	0.274000													11	53					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428420	1428420	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:1428420C>T	ENST00000355432.3	+	11	1221	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000417535.2_3'UTR	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	0						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCCGCGACACGGGGGAACTG	0.498000													50	117					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46750213	46750213	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:46750213G>A	ENST00000311907.5	+	11	1354		c.e11-1		F2_ENST00000530231.1_Splice_Site	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)						activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GGTCTCTGCAGGTACGAGCGA	0.537000													14	59					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41039576	41039576	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:41039576C>T	ENST00000399564.4	-	20	2485	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E234K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AAAAACTTTTCCTGATTTTGG	0.333000													5	6					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196295881	196295881	+	Nonsense_Mutation	SNP	C	C	A	rs149408068		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:196295881C>A	ENST00000367433.5	-	19	2343	c.2242G>T	c.(2242-2244)Gaa>Taa	p.E748*	KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.E748*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.E698*|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.E359*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	748						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGATTAAGTTCTTTCTTTGGT	0.289000													7	42					1.12685e-05	1.14759e-05	1	1	0
WASF3	10810	broad.mit.edu	37	13	27216397	27216397	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:27216397G>A	ENST00000361042.4	+	3	215		c.e3-1		WASF3_ENST00000335327.5_Splice_Site|WASF3_ENST00000496788.1_Splice_Site			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TCAATTTTCAGATTGTGAACC	0.388000													32	53					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419476	46419476	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:46419476C>A	ENST00000458649.2	-	18	3839	c.3421G>T	c.(3421-3423)Ggt>Tgt	p.G1141C	AMBRA1_ENST00000314845.3_Missense_Mutation_p.G1051C|AMBRA1_ENST00000534300.1_Missense_Mutation_p.G1081C|AMBRA1_ENST00000533727.1_Missense_Mutation_p.G1022C|AMBRA1_ENST00000528950.1_Missense_Mutation_p.G1112C|AMBRA1_ENST00000426438.1_Missense_Mutation_p.G1112C|AMBRA1_ENST00000298834.3_Missense_Mutation_p.G1081C			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1141					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCACTGGCACCATACTCTGAA	0.627000													3	41					1	1	1	1	0
NOS1	4842	broad.mit.edu	37	12	117718530	117718530	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:117718530C>T	ENST00000317775.6	-	8	2209	c.1524_splice	c.e8+1	p.E508_splice	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Splice_Site_p.E508_splice	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	508					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACGCTCGCACCTCTGTGAACT	0.592000													15	115					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765569	141765569	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:141765569C>T	ENST00000475668.2	+	40	4762	c.4708C>T	c.(4708-4710)Cgc>Tgc	p.R1570C	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1570	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATGTGTGTTCGCTGGATGCA	0.483000													39	67					0	0	1	0	0
PROSC	11212	broad.mit.edu	37	8	37630369	37630369	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:37630369T>C	ENST00000328195.3	+	5	483	c.416T>C	c.(415-417)tTa>tCa	p.L139S		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	139							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	CCTGAAAGGTTAAAGGTTATG	0.438000													22	79					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144361297	144361297	+	Silent	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:144361297A>G	ENST00000262995.4	+	6	1774	c.1347A>G	c.(1345-1347)ccA>ccG	p.P449P	GAB1_ENST00000262994.4_Silent_p.P449P|GAB1_ENST00000505913.1_Silent_p.P346P	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	449	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ATTACGTCCCAATGAATCCCA	0.343000													37	61					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29611579	29611579	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:29611579G>A	ENST00000334018.6	+	3	467	c.279G>A	c.(277-279)tgG>tgA	p.W93*	EMID1_ENST00000404820.3_Nonsense_Mutation_p.W93*|EMID1_ENST00000404755.3_Nonsense_Mutation_p.W93*|EMID1_ENST00000484039.1_3'UTR	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	93	EMI.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CCCGTGAGTGGAGGTGCTGCC	0.632000													25	69					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70042896	70042896	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:70042896G>A	ENST00000370598.1	+	24	4005	c.3184G>A	c.(3184-3186)Gcc>Acc	p.A1062T	BAI3_ENST00000546190.1_Missense_Mutation_p.A26T|BAI3_ENST00000238918.8_Missense_Mutation_p.A268T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1062					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAAACACAGAGCCGGGTAAGC	0.393000													6	11					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111746	57111746	+	Missense_Mutation	SNP	A	A	G	rs2958150		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:57111746A>G	ENST00000454682.1	-	3	3849	c.3568T>C	c.(3568-3570)Tcc>Ccc	p.S1190P	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCTTTGGGGGATGGGGTAGCT	0.632000			T	BCL6	NHL								6	180					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114511114	114511114	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:114511114G>A	ENST00000369558.1	+	13	2847	c.2615G>A	c.(2614-2616)aGt>aAt	p.S872N	HIPK1_ENST00000340480.4_Missense_Mutation_p.S498N|HIPK1_ENST00000426820.2_Missense_Mutation_p.S872N|HIPK1_ENST00000406344.1_Missense_Mutation_p.S478N|HIPK1_ENST00000369553.1_Missense_Mutation_p.S478N|HIPK1_ENST00000369554.2_Missense_Mutation_p.S827N|HIPK1_ENST00000369555.2_Missense_Mutation_p.S827N|HIPK1_ENST00000369559.4_Missense_Mutation_p.S872N|HIPK1_ENST00000369561.4_Missense_Mutation_p.S838N			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGGAGCAGTCCCCTCCGC	0.493000													71	67					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401063	11401063	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:11401063C>A	ENST00000002596.5	-	2	1741	c.567G>T	c.(565-567)aaG>aaT	p.K189N		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	189						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGTTGAGGGCCTTGTAGTCCA	0.587000													12	43					9.31168e-06	9.49763e-06	1	1	0
C11orf35	256329	broad.mit.edu	37	11	557449	557449	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:557449G>A	ENST00000329451.3	-	7	725	c.663C>T	c.(661-663)gcC>gcT	p.A221A		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	221										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATACCGGCGGGCAACGCTGT	0.617000													5	5					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47342753	47342753	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:47342753C>G	ENST00000426342.1	-	14	2487	c.1741G>C	c.(1741-1743)Ggc>Cgc	p.G581R	MDGA2_ENST00000357362.3_Missense_Mutation_p.G581R|MDGA2_ENST00000399232.2_Missense_Mutation_p.G879R|MDGA2_ENST00000399222.3_Missense_Mutation_p.G12R|MDGA2_ENST00000439988.2_Missense_Mutation_p.G810R	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	810	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GCCTTTTCGCCTTCCAATCTG	0.368000													26	82					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1746530	1746530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:1746530C>T	ENST00000313288.4	+	15	2528	c.2422C>T	c.(2422-2424)Cag>Tag	p.Q808*		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	808						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GATGCGCATCCAGTCGCTGGA	0.662000													11	42					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587504	42587504	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:42587504C>T	ENST00000289957.2	+	5	1182	c.1054C>T	c.(1054-1056)Cat>Tat	p.H352Y		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	352					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CATGAAAGATCATGTGGATCG	0.453000													17	78					0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74308964	74308964	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:74308964G>A	ENST00000446526.3	-	9	1431	c.986C>T	c.(985-987)tCc>tTc	p.S329F	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.S226F|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	300					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GTCTACGGAGGACTCCTCAAT	0.483000													14	85					0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139740806	139740806	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:139740806A>T	ENST00000436881.1	+	1	1940	c.1940A>T	c.(1939-1941)gAg>gTg	p.E647V		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	647										endometrium(2)|large_intestine(1)|lung(6)	9						gccccgggAGAGGCGGCCGAC	0.791000													4	14					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422077	1422077	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:1422077G>A	ENST00000270349.9	-	5	833	c.706C>T	c.(706-708)Ccg>Tcg	p.P236S	SLC6A3_ENST00000453492.2_Missense_Mutation_p.P236S	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	236					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGCCACCGCGGAGGCCCCAGG	0.662000													18	47					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38265520	38265520	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:38265520G>A	ENST00000553443.1	+	19	3813	c.3813G>A	c.(3811-3813)atG>atA	p.M1271I	TTC6_ENST00000554555.1_3'UTR|TTC6_ENST00000382320.3_5'UTR|TTC6_ENST00000267368.7_Missense_Mutation_p.M2I|TTC6_ENST00000476979.1_Missense_Mutation_p.M2I					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TTCTTATGATGAAATATTATG	0.234000													6	7					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656238	40656238	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:40656238C>T	ENST00000406785.1	-	2	1372	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	SLC8A1_ENST00000542756.1_Missense_Mutation_p.E395K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E395K|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E395K|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E395K|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E395K|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E395K|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E395K|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E395K|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E395K			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	395					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTGTTGACCTCGTGCATGCTG	0.468000													11	40					0	0	1	0	0
RUVBL2	10856	broad.mit.edu	37	19	49510575	49510575	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:49510575A>G	ENST00000413176.2	+	6	1425	c.277A>G	c.(277-279)Atc>Gtc	p.I93V	RUVBL2_ENST00000601968.1_Missense_Mutation_p.I93V|RUVBL2_ENST00000595090.1_Missense_Mutation_p.I138V			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	138					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GACGGAGATCATCGAAGGGGA	0.587000													7	56					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190670413	190670413	+	Silent	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:190670413T>C	ENST00000441310.2	+	4	584	c.351T>C	c.(349-351)ttT>ttC	p.F117F	PMS1_ENST00000432292.3_Intron|PMS1_ENST00000418224.3_Intron|PMS1_ENST00000409985.1_Silent_p.F117F|PMS1_ENST00000447232.2_Silent_p.F117F|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409823.3_Silent_p.F117F|PMS1_ENST00000374826.4_Silent_p.F117F	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	117					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CTGATAATTTTAGCACCCAGT	0.353000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					4	58					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202777350	202777350	+	Silent	SNP	A	A	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:202777350A>C	ENST00000367265.3	-	1	1248	c.84T>G	c.(82-84)ccT>ccG	p.P28P	KDM5B_ENST00000367264.2_Silent_p.P28P	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	28					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACTCGGGTGGAGGCAGGAACT	0.701000													20	54					0	0	1	0	0
PLGRKT	55848	broad.mit.edu	37	9	5361160	5361160	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:5361160G>A	ENST00000223864.2	-	5	461	c.240C>T	c.(238-240)ttC>ttT	p.F80F		NM_018465.3	NP_060935.2	Q9HBL7	CI046_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	80						integral to membrane											TCGGGACCAGGAAGGCTGGCT	0.343000													9	36					0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46726603	46726603	+	Silent	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:46726603C>A	ENST00000311764.2	+	5	1583	c.1353C>A	c.(1351-1353)tcC>tcA	p.S451S		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCGGCCCTCCCTGCGGCTGC	0.677000													19	70					1.9806e-07	2.0295e-07	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26423240	26423240	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:26423240G>A	ENST00000335473.7	+	43	7550	c.7300G>A	c.(7300-7302)Gaa>Aaa	p.E2434K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E2435K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2434K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2434						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP 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						CCTCGACTACGAACGCAAGAC	0.562000													71	121					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100731199	100731199	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:100731199C>T	ENST00000306085.6	+	3	903	c.606C>T	c.(604-606)tgC>tgT	p.C202C		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	202					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCACCCCTGCCTGCCTCTGG	0.697000													3	20					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160492959	160492959	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:160492959G>A	ENST00000368059.3	-	1	93	c.24C>T	c.(22-24)ctC>ctT	p.L8L	SLAMF6_ENST00000368057.3_Silent_p.L8L|SLAMF6_ENST00000368055.1_Silent_p.L8L	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	8						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AGACAAACAGGAGCGATTGGA	0.473000													14	38					0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44439731	44439731	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:44439731C>T	ENST00000372622.3	+	13	955	c.887C>T	c.(886-888)tCc>tTc	p.S296F		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	296						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GAATTGAAATCCTTTGTCCTA	0.498000													21	147					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70602452	70602452	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:70602452C>T	ENST00000449580.1	+	10	1652	c.1601C>T	c.(1600-1602)tCt>tTt	p.S534F	TAF1_ENST00000276072.3_Missense_Mutation_p.S555F|TAF1_ENST00000423759.1_Missense_Mutation_p.S555F|TAF1_ENST00000373790.4_Missense_Mutation_p.S534F			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	534					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAGGAATCATCTCTGAAGAAG	0.433000													15	35					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14880842	14880842	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:14880842G>A	ENST00000403951.2	-	2	466	c.47C>T	c.(46-48)tCc>tTc	p.S16F	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.S16F|DGKB_ENST00000407950.1_Missense_Mutation_p.S16F|DGKB_ENST00000399322.3_Missense_Mutation_p.S16F|DGKB_ENST00000402815.1_Missense_Mutation_p.S16F|DGKB_ENST00000258767.5_Missense_Mutation_p.S16F|DGKB_ENST00000444700.2_Missense_Mutation_p.S16F			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	16					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTGAAGTTGGGAAAATTCCGA	0.368000													9	25					0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37603702	37603702	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:37603702G>A	ENST00000328544.3	-	2	674	c.141C>T	c.(139-141)atC>atT	p.I47I	SSTR3_ENST00000402501.1_Silent_p.I47I	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	47					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						AGACCAGGGGGATCAGAACGC	0.667000													16	120					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323087	61323087	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:61323087G>A	ENST00000283752.5	-	8	1120	c.977C>T	c.(976-978)tCt>tTt	p.S326F	SERPINB3_ENST00000332821.8_Missense_Mutation_p.S274F|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	326					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TAGGACTCCAGATAGCACGAG	0.537000													30	104					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13221575	13221575	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:13221575C>T	ENST00000197268.8	+	9	1418	c.1298C>T	c.(1297-1299)cCt>cTt	p.P433L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	433						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CAGCCTACTCCTGGATATTTC	0.423000													25	97					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76463419	76463419	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:76463419C>T	ENST00000388942.3	+	7	875	c.599C>T	c.(598-600)gCc>gTc	p.A200V		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	200						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCTGGGACGCCATCAGCCTC	0.602000													5	12					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173804030	173804030	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:173804030G>A	ENST00000506823.1	+	8	1670	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	GALNTL6_ENST00000508122.1_Missense_Mutation_p.G321E	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	338	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAAATCTGGGGAGGAGAACAG	0.418000													41	60					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17696911	17696911	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:17696911C>T	ENST00000353383.1	+	3	1118	c.649C>T	c.(649-651)Ccc>Tcc	p.P217S	RAI1_ENST00000261641.6_Missense_Mutation_p.P217S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	217	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCAGTCCTTCCCCACCTCCTC	0.622000													14	46					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228157946	228157946	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:228157946G>A	ENST00000396578.3	+	38	3412	c.3250G>A	c.(3250-3252)Gaa>Aaa	p.E1084K	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1084	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAAGAAAGGAGAAATGGGGCA	0.507000													5	30					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56320340	56320340	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:56320340G>A	ENST00000543544.1	+	0	151				LPO_ENST00000262290.4_De_novo_Start_InFrame|LPO_ENST00000582328.1_De_novo_Start_InFrame|LPO_ENST00000421678.2_De_novo_Start_InFrame			P22079	PERL_HUMAN	lactoperoxidase						hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCGTTTCAGTGATGAGGGTCC	0.532000													9	137					0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4431850	4431850	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:4431850G>A	ENST00000304735.3	+	2	1127	c.972G>A	c.(970-972)gaG>gaA	p.E324E	CORO7_ENST00000251166.4_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000539968.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	324	LRRCT.					extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						CCAGCCCTGAGGAGACGCGCT	0.682000													4	24					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89938673	89938673	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:89938673G>A	ENST00000405460.2	+	13	2464	c.2367_splice	c.e13-1	p.E790_splice		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	790					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		GTTTTTAAAGGAAGGAGAATC	0.373000													18	81					0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	855687	855687	+	Missense_Mutation	SNP	G	G	A	rs112990855		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:855687G>A	ENST00000590230.1	+	5	631	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	ELANE_ENST00000263621.1_Missense_Mutation_p.G164R			P08246	ELNE_HUMAN	elastase, neutrophil expressed	164	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 interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|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)	CAGGAACCGTGGGATCGCCAG	0.711000													42	104					0	0	1	0	0
RAD51C	5889	broad.mit.edu	37	17	56811484	56811484	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:56811484G>A	ENST00000337432.4	+	9	1103	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q		NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	344					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCAGCCTCAGGGATTTAGAG	0.338000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				11	4					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821242	43821242	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:43821242C>T	ENST00000382031.1	+	5	8316	c.8285C>T	c.(8284-8286)tCc>tTc	p.S2762F	MAP1A_ENST00000399453.1_Missense_Mutation_p.S2524F|MAP1A_ENST00000300231.5_Missense_Mutation_p.S2524F			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2524						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAGTGTCCGTCCATCACAGCT	0.577000													62	118					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108624964	108624964	+	Silent	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:108624964A>G	ENST00000264047.2	+	8	1215	c.939A>G	c.(937-939)acA>acG	p.T313T	SLC5A7_ENST00000540517.1_Silent_p.T208T|SLC5A7_ENST00000409059.1_Silent_p.T313T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	313					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)	CCAAGACTACAGAAGAGGCAG	0.418000													4	29					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77105508	77105508	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:77105508C>T	ENST00000426216.2	+	22	2570	c.2553C>T	c.(2551-2553)ccC>ccT	p.P851P	ATP9B_ENST00000543761.1_Silent_p.P172P|ATP9B_ENST00000307671.7_Silent_p.P851P	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	851					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCTGCTCACCCACCCAGAAGG	0.602000													39	56					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75498827	75498827	+	Silent	SNP	G	G	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:75498827G>C	ENST00000360639.2	+	2	758	c.438G>C	c.(436-438)ctG>ctC	p.L146L	C15orf39_ENST00000567617.1_Silent_p.L146L|C15orf39_ENST00000394987.4_Silent_p.L146L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	146										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAACTTGTCTGGGGGAAGGAG	0.627000													5	58					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38275784	38275784	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:38275784C>T	ENST00000341462.5	-	10	2333	c.1392G>A	c.(1390-1392)gaG>gaA	p.E464E	FGFR1_ENST00000425967.3_Silent_p.E495E|FGFR1_ENST00000397103.1_Silent_p.E375E|FGFR1_ENST00000397108.4_Silent_p.E462E|FGFR1_ENST00000397113.2_Silent_p.E462E|FGFR1_ENST00000397091.5_Silent_p.E462E|FGFR1_ENST00000335922.5_Silent_p.E454E|FGFR1_ENST00000326324.6_Silent_p.E373E|FGFR1_ENST00000356207.5_Silent_p.E375E|FGFR1_ENST00000532791.1_Silent_p.E462E|FGFR1_ENST00000447712.2_Silent_p.E464E			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	464					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CTTCGGGAAGCTCATACTCAG	0.537000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						24	99					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730400	5730400	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:5730400C>T	ENST00000379965.3	+	8	1296	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	340	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGTGATTTTTCTGCTTTTGGT	0.443000													12	80					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150029215	150029215	+	Missense_Mutation	SNP	C	C	T	rs151000816		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:150029215C>T	ENST00000394243.1	+	3	2484	c.2110C>T	c.(2110-2112)Cgc>Tgc	p.R704C	SYNPO_ENST00000522122.1_Missense_Mutation_p.R704C|SYNPO_ENST00000307662.4_Missense_Mutation_p.R460C|SYNPO_ENST00000519664.1_Missense_Mutation_p.R460C	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	704					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGTCACCCCGCATCCAGGC	0.672000													5	15					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18143519	18143519	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:18143519C>T	ENST00000278816.2	+	7	2251	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	CSRP2BP_ENST00000377681.2_Missense_Mutation_p.S533F|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.S406F|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.S534F			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	534					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GGAGGAATTTCCAGACTTCCA	0.453000													22	56					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86807791	86807791	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:86807791G>A	ENST00000441037.2	+	10	1346	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	AGBL1_ENST00000421325.2_Silent_p.P417P|AGBL1_ENST00000389298.3_Silent_p.P148P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	417			P -> L (in dbSNP:rs8029810).		C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGGCTTCCCCGAAAGCAGATG	0.428000													48	72					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68326071	68326071	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:68326071C>T	ENST00000393799.2	+	8	1036	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	PPP6R3_ENST00000527403.2_Missense_Mutation_p.H257Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.H257Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.H257Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.H257Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.H257Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.H257Y|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Missense_Mutation_p.H257Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.H257Y			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	257					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AAATATTTTCCACAAGGAGAA	0.363000													37	44					0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45782997	45782997	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:45782997G>A	ENST00000261867.4	-	4	935	c.621C>T	c.(619-621)atC>atT	p.I207I	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	207					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AGTTCATATGGATAGTTCTTT	0.343000													16	36					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687255	21687255	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:21687255G>A	ENST00000398485.2	+	2	520	c.466G>A	c.(466-468)Gag>Aag	p.E156K	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.E132K	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	156	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.E62K(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCGCTACAACGAGACCGGCTC	0.652000													12	119					0	0	1	0	0
TLX3	30012	broad.mit.edu	37	5	170736487	170736487	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:170736487G>T	ENST00000296921.5	+	1	200	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	40						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGCCCCGACGGCGCCAGCTA	0.756000			T	BCL11B	T-ALL								4	9					1.23904e-05	1.25991e-05	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20651276	20651276	+	RNA	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:20651276C>T	ENST00000428453.1	-	0	2361																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TTCATATCTTCCTCAACGCTG	0.478000													4	139					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563084	129563084	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:129563084T>C	ENST00000422113.2	-	8	2436	c.2110A>G	c.(2110-2112)Aaa>Gaa	p.K704E	TMEM132D_ENST00000389441.4_Missense_Mutation_p.K242E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	704						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CATACCTGTTTTGGCCTCTGC	0.592000													7	112					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40914789	40914789	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:40914789C>T	ENST00000346991.5	+	11	2795	c.2405C>T	c.(2404-2406)cCt>cTt	p.P802L	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.P776L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	802					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GGATTTGGTCCTTCTGAACTA	0.388000													7	39					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865792	47865792	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:47865792C>A	ENST00000396105.1	-	14	4015	c.3769G>T	c.(3769-3771)Ggc>Tgc	p.G1257C	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.G1257C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1257							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCATGGGGCCTATTTGATTG	0.517000													18	114					3.32936e-07	3.40631e-07	1	1	0
ST18	9705	broad.mit.edu	37	8	53084616	53084616	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:53084616C>T	ENST00000276480.7	-	10	1488	c.805G>A	c.(805-807)Ggc>Agc	p.G269S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	269						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGGCATTGCCATCCAGGGGT	0.498000													18	70					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9226362	9226362	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:9226362G>A	ENST00000293614.1	-	1	77	c.78C>T	c.(76-78)atC>atT	p.I26I	OR7G1_ENST00000541538.1_Silent_p.I26I			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GGCTGAAAGGGATTAACTTCA	0.483000													13	90					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3215039	3215039	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:3215039G>A	ENST00000356443.4	-	2	516	c.183C>T	c.(181-183)ttC>ttT	p.F61F	MYOM1_ENST00000400569.3_Silent_p.F61F|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Silent_p.F61F	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	61						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACGCCCGACGGAAGGCCTCGG	0.682000													32	42					0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139740250	139740250	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:139740250C>T	ENST00000436881.1	+	1	1384	c.1384C>T	c.(1384-1386)Ccg>Tcg	p.P462S		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	462										endometrium(2)|large_intestine(1)|lung(6)	9						CCGAGAAGACCCGTTGGGCCG	0.761000													6	12					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348231	7348231	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:7348231C>T	ENST00000486284.1	+	4	1199	c.925C>T	c.(925-927)Ctt>Ttt	p.L309F	GRM7_ENST00000403881.1_Missense_Mutation_p.L309F|GRM7_ENST00000389336.4_Missense_Mutation_p.L309F|GRM7_ENST00000402647.2_Missense_Mutation_p.L309F|GRM7_ENST00000357716.4_Missense_Mutation_p.L309F	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	309					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGGCCATTTTCTTTGGGTGGG	0.473000													12	46					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640771	179640771	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:179640771C>T	ENST00000589042.1	-	28	6044	c.5820G>A	c.(5818-5820)agG>agA	p.R1940R	TTN_ENST00000460472.2_Silent_p.R1894R|TTN_ENST00000342992.6_Silent_p.R1940R|TTN_ENST00000360870.5_Silent_p.R1940R|TTN_ENST00000359218.5_Silent_p.R1894R|TTN_ENST00000342175.6_Silent_p.R1894R|TTN_ENST00000591111.1_Silent_p.R1940R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1672							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)			CAGGAGCTCTCCTAAGGACAG	0.453000													37	156					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7224553	7224553	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:7224553C>T	ENST00000399464.2	-	20	3253	c.3238G>A	c.(3238-3240)Ggt>Agt	p.G1080S	NEURL4_ENST00000570460.1_Missense_Mutation_p.G1056S|NEURL4_ENST00000315614.7_Missense_Mutation_p.G1078S	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTGACACACCGCGGACTGGC	0.577000													17	26					0	0	1	0	0
DAOA	267012	broad.mit.edu	37	13	106142360	106142360	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:106142360C>T	ENST00000329625.5	+	4	457	c.179C>T	c.(178-180)aCc>aTc	p.T60I	DAOA_ENST00000375936.3_Missense_Mutation_p.T131I|DAOA-AS1_ENST00000448407.1_RNA			P59103	DAOA_HUMAN	D-amino acid oxidase activator	131						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					cgaatgtggacctgcaactac	0.468000													6	19					0	0	1	0	0
APOL2	23780	broad.mit.edu	37	22	36623971	36623971	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:36623971T>C	ENST00000249066.6	-	6	969	c.493A>G	c.(493-495)Acc>Gcc	p.T165A	APOL2_ENST00000451256.2_Missense_Mutation_p.T277A|APOL2_ENST00000358502.5_Missense_Mutation_p.T165A	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	165					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						ACACTGCAGGTAATCCCAGCC	0.552000													14	58					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25835099	25835099	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:25835099C>T	ENST00000399878.3	-	4	1075	c.953G>A	c.(952-954)gGc>gAc	p.G318D	SEL1L3_ENST00000502949.1_Missense_Mutation_p.G165D|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G283D|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	318						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AGAAGGTGTGCCGTACATCTC	0.368000													5	40					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473033	2473033	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:2473033C>T	ENST00000258711.6	+	2	894	c.759C>T	c.(757-759)tcC>tcT	p.S253S		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	253					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCCTGATCTCCGCCTTCCGCA	0.627000													18	110					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139153554	139153554	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:139153554G>A	ENST00000395297.1	-	17	3847	c.3677C>T	c.(3676-3678)tCg>tTg	p.S1226L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1226										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGTGAGGACCGATCGGATGAT	0.547000										HNSCC(54;0.14)			24	59					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716104	50716104	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:50716104G>A	ENST00000449103.1	-	33	5252	c.5112C>T	c.(5110-5112)gtC>gtT	p.V1704V	PLXNB2_ENST00000359337.4_Silent_p.V1704V			O15031	PLXB2_HUMAN	plexin B2	1704					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)		CCACCTCGTGGACATGCACGT	0.622000													43	128					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080161	194080161	+	Missense_Mutation	SNP	C	C	G	rs141299685		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:194080161C>G	ENST00000347624.3	-	2	1697	c.1612G>C	c.(1612-1614)Ggg>Cgg	p.G538R	LRRC15_ENST00000428839.1_Missense_Mutation_p.G544R|LRRC15_ENST00000439944.2_Missense_Mutation_p.G544R	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	538						integral to membrane		p.G538W(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ATGGCCAGCCCGCTCTGGGCC	0.592000													8	65					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134622165	134622165	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:134622165G>T	ENST00000368586.5	-	58	8008	c.7908C>A	c.(7906-7908)ttC>ttA	p.F2636L	TTC40_ENST00000263170.5_Missense_Mutation_p.F797L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	797										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						agaggcccaggaaggggagag	0.706000													4	10					0.00909568	0.00916469	1	1	0
PLCL2	23228	broad.mit.edu	37	3	17052819	17052819	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:17052819C>T	ENST00000418129.2	+	2	2068	c.1603C>T	c.(1603-1605)Cca>Tca	p.P535S	PLCL2_ENST00000432376.1_Missense_Mutation_p.P535S|PLCL2_ENST00000396755.2_Missense_Mutation_p.P535S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	661	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAATGAAAATCCAGGGGACTT	0.393000													20	77					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109674142	109674142	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:109674142C>T	ENST00000296486.3	-	6	681	c.527G>A	c.(526-528)gGa>gAa	p.G176E	ETNPPL_ENST00000411864.2_Missense_Mutation_p.G170E|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G118E|ETNPPL_ENST00000510706.1_Missense_Mutation_p.G136E	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		TCTATATTTTCCTCTGTAAGT	0.383000													14	37					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121930123	121930123	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:121930123C>T	ENST00000265922.3	-	8	1986	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		509					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGGCGGATCTCGTTGCTGATG	0.552000													7	45					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558223	140558223	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:140558223G>A	ENST00000239444.2	+	1	853	c.608G>A	c.(607-609)cGa>cAa	p.R203Q		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGACCGAGAGGAAGAA	0.532000													4	75					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120959317	120959317	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:120959317C>T	ENST00000273666.6	+	14	1634	c.1363C>T	c.(1363-1365)Ctt>Ttt	p.L455F	STXBP5L_ENST00000472879.1_Missense_Mutation_p.L455F|STXBP5L_ENST00000497029.1_Missense_Mutation_p.L455F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L455F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L455F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	455					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCTTGGAACCTTGGAGCACA	0.323000													19	41					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075657	83075657	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:83075657G>A	ENST00000369750.3	+	2	1596	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	TPBG_ENST00000535040.1_Missense_Mutation_p.E327K|TPBG_ENST00000543496.1_Missense_Mutation_p.E327K			Q13641	TPBG_HUMAN	trophoblast glycoprotein	327	LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TGCATATCCGGAAAAAATGAG	0.547000													24	54					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271935	17271935	+	Missense_Mutation	SNP	G	G	A	rs11545550		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:17271935G>A	ENST00000544301.1	+	2	927	c.514G>A	c.(514-516)Gag>Aag	p.E172K	VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000485947.1_3'UTR|VIM_ENST00000224237.5_Missense_Mutation_p.E172K	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	172	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCCGCGTCGAGGTGGAGCG	0.672000													5	20					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18879610	18879610	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:18879610A>T	ENST00000446231.2	-	22	3509	c.3097T>A	c.(3097-3099)Tcc>Acc	p.S1033T	SMG1_ENST00000389467.3_Missense_Mutation_p.S1033T			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1033	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTCATGATGGAGAGTCGAATC	0.463000													3	3					0	0	1	0	0
TSPO2	222642	broad.mit.edu	37	6	41011331	41011331	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:41011331G>A	ENST00000373161.1	+	3	454	c.209G>A	c.(208-210)gGg>gAg	p.G70E	TSPO2_ENST00000470917.1_Missense_Mutation_p.G70E|TSPO2_ENST00000373158.2_Intron	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	70					transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GACCTGGGAGGGGGCTTGGGG	0.577000													19	104					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52542710	52542710	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:52542710C>T	ENST00000242839.4	-	4	1733	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.G526E|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.G526E|ATP7B_ENST00000344297.5_Missense_Mutation_p.G526E|ATP7B_ENST00000400366.3_Missense_Mutation_p.G415E	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	526	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTCTGCCTTTCCTGCCATCAA	0.537000									Wilson disease				21	30					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370465	17370465	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:17370465G>A	ENST00000252597.3	-	6	1018	c.845C>T	c.(844-846)cCc>cTc	p.P282L	USHBP1_ENST00000431146.2_Missense_Mutation_p.P218L	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	282							PDZ domain binding	p.P282R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GGGCTGGTTGGGAAGAGACCC	0.572000													29	176					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19502376	19502376	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:19502376C>T	ENST00000407835.1	+	15	1578	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	CDC45_ENST00000263201.1_Missense_Mutation_p.S441F|CDC45_ENST00000404724.3_Missense_Mutation_p.S395F|CDC45_ENST00000437685.2_Missense_Mutation_p.S473F			O75419	CDC45_HUMAN	cell division cycle 45	441					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CTCGTCATCTCCCAGGGGCCT	0.592000													68	90					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214878744	214878744	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:214878744C>T	ENST00000331683.5	+	13	1565	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	SPAG16_ENST00000374309.3_Silent_p.S396S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	490					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTCCTTTCTCCAATACTCTTC	0.363000													17	108					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812956	156812956	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:156812956G>A	ENST00000368195.3	-	17	3362	c.2966C>T	c.(2965-2967)tCt>tTt	p.S989F	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	989	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CATCCCAAAAGAGCCCTGGCC	0.602000													14	44					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	2998506	2998506	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:2998506G>A	ENST00000216877.6	+	12	1361	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	PTPRA_ENST00000358719.4_Missense_Mutation_p.E186K|PTPRA_ENST00000356147.3_Missense_Mutation_p.E321K|PTPRA_ENST00000318266.5_Missense_Mutation_p.E321K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E330K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E341K|PTPRA_ENST00000380393.3_Missense_Mutation_p.E330K	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	330	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GATGATCTGGGAACAAAACAC	0.428000													13	51					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184700833	184700833	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:184700833G>A	ENST00000437079.3	+	42	3707	c.3536G>A	c.(3535-3537)aGc>aAc	p.S1179N	VPS8_ENST00000436792.2_Missense_Mutation_p.S1177N|VPS8_ENST00000446204.2_Missense_Mutation_p.S1087N|VPS8_ENST00000287546.4_Missense_Mutation_p.S1179N	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1179							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTTTTAAATAGCATGGCAGCA	0.299000													11	17					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149357561	149357561	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:149357561G>A	ENST00000355292.3	-	2	814	c.452C>T	c.(451-453)cCt>cTt	p.P151L	NR3C2_ENST00000358102.3_Missense_Mutation_p.P151L|NR3C2_ENST00000511528.1_Missense_Mutation_p.P151L|NR3C2_ENST00000344721.4_Missense_Mutation_p.P151L|NR3C2_ENST00000512865.1_Missense_Mutation_p.P151L|NR3C2_ENST00000342437.4_Missense_Mutation_p.P151L			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	151	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TAGAGTGGAAGGACGATGGCC	0.468000													8	103					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35142691	35142691	+	RNA	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:35142691G>A	ENST00000436258.1	-	0	1811																											CTGCGAAAAAGCCAGCCAAAG	0.358000													7	29					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999128	46999128	+	Missense_Mutation	SNP	G	G	A	rs149580948		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:46999128G>A	ENST00000374314.4	+	1	1203	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	GPRIN2_ENST00000374317.1_Missense_Mutation_p.R83Q			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	83								p.R83P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCAAGGCGCGACCCAGTGCT	0.697000													13	111					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726437	12726437	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:12726437C>T	ENST00000376221.1	+	4	915	c.915C>T	c.(913-915)ggC>ggT	p.G305G		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	305						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGTCTCCCGGCCCTTTTAATG	0.502000													81	103					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62330003	62330003	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:62330003G>A	ENST00000371158.2	+	20	2647	c.2533G>A	c.(2533-2535)Gag>Aag	p.E845K	INADL_ENST00000316485.6_Missense_Mutation_p.E845K	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	845					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAAAGAGATAGAGCAAAGCAA	0.368000													20	50					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9557371	9557371	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:9557371G>A	ENST00000400556.3	-	15	2111	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.R663*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	680					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						AGAGTTCGTCGAACTTTCCAC	0.358000													18	92					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088594	86088594	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:86088594C>T	ENST00000330753.4	+	2	1503	c.736C>T	c.(736-738)Cct>Tct	p.P246S	FLRT2_ENST00000554746.1_Missense_Mutation_p.P246S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	246					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTCCCACCCTCCTCCCGATCT	0.512000													20	66					0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598373	68598373	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:68598373C>T	ENST00000570495.1	+	5	1975	c.1683C>T	c.(1681-1683)gcC>gcT	p.A561A	ZFP90_ENST00000398253.2_Silent_p.A561A|ZFP90_ENST00000563169.2_Silent_p.A561A|RP11-615I2.7_ENST00000571720.1_RNA			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	561					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GTGGGAAAGCCTTTAGTCAAA	0.438000													57	92					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31532893	31532893	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:31532893C>T	ENST00000215885.3	-	5	1452		c.e5+1			NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III						cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						AGGGGCCTCACCGGCGCGTGC	0.682000													8	28					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202777351	202777351	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:202777351G>A	ENST00000367265.3	-	1	1247	c.83C>T	c.(82-84)cCt>cTt	p.P28L	KDM5B_ENST00000367264.2_Missense_Mutation_p.P28L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	28					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTCGGGTGGAGGCAGGAACTC	0.706000													21	52					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39929628	39929628	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:39929628G>A	ENST00000303538.8	-	3	834	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	PDS5A_ENST00000503396.1_Missense_Mutation_p.R99C	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	99					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GCATAGATACGAAAGATATCA	0.398000													13	36					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39650381	39650381	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:39650381T>A	ENST00000216832.4	+	9	1535	c.1468T>A	c.(1468-1470)Tcc>Acc	p.S490T	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	490	Gln-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		tcaatcccagtcccaaccAGT	0.522000													9	42					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38955845	38955845	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:38955845G>A	ENST00000306658.7	-	1	366	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	101	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				ACATTATCCAGGTAGGATGCC	0.468000													17	104					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3201173	3201173	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:3201173G>A	ENST00000380989.2	-	10	1107	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000224949.4_Missense_Mutation_p.P357S|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.P325S	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	325					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGAGAATTGGGCCCAGAAGTC	0.413000													9	46					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167135	140167135	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:140167135C>T	ENST00000504120.2	+	1	1260	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V	PCDHA1_ENST00000394633.3_Silent_p.V420V|PCDHA1_ENST00000378133.3_Silent_p.V420V	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGTCGGTCTATGAGCTGG	0.637000													47	140					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43428872	43428872	+	RNA	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:43428872A>G	ENST00000406070.2	-	0	1444					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				gagttgtccaactctgactta	0.433000													16	38					0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634823	122634823	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:122634823C>T	ENST00000249284.2	-	1	931	c.866G>A	c.(865-867)gGa>gAa	p.G289E		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	289					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTAGCACTTTCCCTTTAGAAT	0.418000													47	120					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105152793	105152793	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:105152793G>A	ENST00000428173.2	+	13	1466	c.1163G>A	c.(1162-1164)gGg>gAg	p.G388E	NRK_ENST00000243300.9_Missense_Mutation_p.G387E			Q7Z2Y5	NRK_HUMAN	Nik related kinase	387							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GTCCTGCATGGGGAACCCTCT	0.537000										HNSCC(51;0.14)			16	20					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201980309	201980309	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:201980309C>T	ENST00000359651.3	+	1	3237	c.45C>T	c.(43-45)ttC>ttT	p.F15F	ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Silent_p.F15F|ELF3_ENST00000367284.5_Silent_p.F15F			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	15					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GCAACTACTTCAGTGCGATGT	0.577000													42	108					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133403025	133403025	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:133403025G>A	ENST00000329321.3	+	2	1677	c.1208G>A	c.(1207-1209)aGg>aAg	p.R403K	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	403						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTCTGCAAGGAGAACTGAG	0.597000													15	54					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41043842	41043842	+	Silent	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:41043842T>C	ENST00000324545.7	+	23	4105	c.3472T>C	c.(3472-3474)Ttg>Ctg	p.L1158L	USP9X_ENST00000378308.2_Silent_p.L1158L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1158					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGCCAAGCTTTTGCTAACTGC	0.453000													18	5					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215932006	215932006	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:215932006C>T	ENST00000366943.2	-	58	11706	c.11320G>A	c.(11320-11322)Gaa>Aaa	p.E3774K	USH2A_ENST00000307340.3_Missense_Mutation_p.E3774K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3774	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATAGATTTCTTCTGGTGTT	0.343000										HNSCC(13;0.011)			8	77					0	0	1	0	0
SNCG	6623	broad.mit.edu	37	10	88718556	88718556	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:88718556G>A	ENST00000372017.3	+	1	144	c.102G>A	c.(100-102)aaG>aaA	p.K34K	SNCG_ENST00000348795.4_Silent_p.K34K	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	34	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding			endometrium(1)|skin(1)	2						AGAAGACCAAGGAGGGGGTCA	0.592000													9	44					0	0	1	0	0
MPZ	4359	broad.mit.edu	37	1	161276675	161276675	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:161276675C>T	ENST00000533357.1	-	3	337	c.271G>A	c.(271-273)Gag>Aag	p.E91K	MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000360451.6_Missense_Mutation_p.E101K|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000336559.4_Missense_Mutation_p.E91K	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	91	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTCCCCACCTCGTCAATGTAG	0.517000													8	97					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26510829	26510829	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:26510829C>T	ENST00000311151.5	+	13	1955	c.1543C>T	c.(1543-1545)Cca>Tca	p.P515S	DPYSL2_ENST00000521913.1_Missense_Mutation_p.P479S|DPYSL2_ENST00000523027.1_Missense_Mutation_p.P479S	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	515					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GACAGTCACTCCAGCCTCCTC	0.592000													45	218					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111981074	111981074	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:111981074C>T	ENST00000361822.3	+	11	1286	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	386						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TCGCTGCTCCCCGATAGAAAG	0.403000													14	77					0	0	1	0	0
CYB5RL	606495	broad.mit.edu	37	1	54645014	54645014	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:54645014G>A	ENST00000419823.2	-	6	776	c.552C>T	c.(550-552)ctC>ctT	p.L184L	RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000401046.3_Silent_p.L36L|CYB5RL_ENST00000542737.1_Silent_p.L184L|CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000534324.1_Silent_p.L184L	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	184							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CCAGCAAGAGGAGCTCACCAT	0.542000													11	18					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78919517	78919517	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:78919517C>T	ENST00000306801.3	+	26	3438	c.3076C>T	c.(3076-3078)Ccc>Tcc	p.P1026S	RPTOR_ENST00000544334.2_Missense_Mutation_p.P868S|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1026					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCCCGGCGTCCCCTCTGTGGT	0.562000													33	47					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115167889	115167889	+	Silent	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:115167889T>C	ENST00000393274.1	-	4	1342	c.717A>G	c.(715-717)gaA>gaG	p.E239E	DENND2C_ENST00000393277.1_Silent_p.E239E|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Silent_p.E239E	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	239										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAGTTATTTTCACAGTATT	0.363000													34	30					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99454465	99454465	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:99454465G>T	ENST00000354829.2	+	9	911	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	CYP3A43_ENST00000415413.1_Missense_Mutation_p.D59Y|CYP3A43_ENST00000417625.1_Missense_Mutation_p.D160Y|CYP3A43_ENST00000444905.1_Missense_Mutation_p.D17Y|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Missense_Mutation_p.D270Y|CYP3A43_ENST00000342499.4_Missense_Mutation_p.D130Y|CYP3A43_ENST00000312017.5_Missense_Mutation_p.D270Y	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	270			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GCATCGAGTAGATTTCTTTCA	0.438000													30	70					1.62565e-12	1.68661e-12	1	1	0
PLA2G4A	5321	broad.mit.edu	37	1	186925441	186925441	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:186925441C>T	ENST00000367466.3	+	14	1696	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.S455F	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	515	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ACACAGGACTCCTTTGATGAT	0.438000													61	142					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889700	51889700	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:51889700C>T	ENST00000371117.3	-	32	5183	c.4908G>A	c.(4906-4908)ctG>ctA	p.L1636L	PKHD1_ENST00000340994.4_Silent_p.L1636L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1636	IPT/TIG 11.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTCTATTTCCAGGGCAACAG	0.483000													33	72					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49208268	49208268	+	Silent	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:49208268T>C	ENST00000340334.7	-	6	890	c.522A>G	c.(520-522)gaA>gaG	p.E174E	FOLH1_ENST00000356696.3_Silent_p.E189E|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000256999.2_Silent_p.E189E|FOLH1_ENST00000533034.1_Silent_p.E174E	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	189					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCATGTCCCGTTCCAATTTAA	0.348000													5	63					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63987250	63987250	+	Silent	SNP	C	C	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:63987250C>G	ENST00000279227.5	+	9	1163	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	FERMT3_ENST00000345728.5_Silent_p.L356L	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	356	FERM.|PH.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						AGGACCATCTCCGAATCTTTC	0.622000													48	76					0	0	1	0	0
PGLS	25796	broad.mit.edu	37	19	17628188	17628188	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:17628188C>T	ENST00000252603.2	+	3	532	c.488C>T	c.(487-489)cCc>cTc	p.P163L		NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	163						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						CCAGACCACCCCCTCCTACAG	0.637000													30	114					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935942	94935942	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:94935942A>G	ENST00000337425.5	-	2	364	c.290T>C	c.(289-291)cTg>cCg	p.L97P	SERPINA9_ENST00000380365.3_Missense_Mutation_p.L79P|SERPINA9_ENST00000546329.1_Missense_Mutation_p.L61P|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000424550.2_Intron	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	79					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GAGCATGGCCAGGGAAGTGGA	0.582000													9	49					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111785270	111785270	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:111785270C>T	ENST00000452346.2	+	13	1590	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	TMPRSS7_ENST00000419127.1_Silent_p.S403S			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	529	LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATACCAGCTCCTTCAGGCAGC	0.507000													36	97					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049701	107049701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:107049701G>T	ENST00000409886.3	-	16	2333	c.2246C>A	c.(2245-2247)tCa>tAa	p.S749*	RGPD3_ENST00000304514.7_Nonsense_Mutation_p.S749*	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	749					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGCATGACTGACTTAAGCAT	0.358000													44	247					2.14255e-21	2.24393e-21	1	1	0
ATP6V1C1	528	broad.mit.edu	37	8	104054585	104054585	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:104054585C>T	ENST00000395862.3	+	3	309	c.150C>T	c.(148-150)gtC>gtT	p.V50V	ATP6V1C1_ENST00000521514.1_5'UTR|ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000518738.1_Silent_p.V50V	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	50					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CGTTGGATGTCTTGGTTGGCT	0.353000													40	77					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21733377	21733377	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:21733377G>A	ENST00000261195.2	-	2	456	c.202C>T	c.(202-204)Cca>Tca	p.P68S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	68					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAAAATATGGACCTATCAGA	0.408000													13	95					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34128622	34128622	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:34128622T>G	ENST00000373381.4	-	26	4299	c.4123A>C	c.(4123-4125)Agc>Cgc	p.S1375R	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.S248R	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1335	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGAACCCCGCTCTCCACAGGC	0.592000													13	89					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154143320	154143320	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:154143320C>T	ENST00000404039.1	+	2	660	c.73C>T	c.(73-75)Ccg>Tcg	p.P25S	DPP6_ENST00000406326.1_Missense_Mutation_p.P89S|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Missense_Mutation_p.P89S|DPP6_ENST00000427557.1_Missense_Mutation_p.P27S|DPP6_ENST00000332007.3_Missense_Mutation_p.P27S	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	89					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAGTAACCCTCCGCAGAGGAA	0.423000													24	40					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702087	179702087	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:179702087A>T	ENST00000420890.2	-	23	3976	c.3859T>A	c.(3859-3861)Ttt>Att	p.F1287I	CCDC141_ENST00000295723.5_Missense_Mutation_p.F712I|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	712							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGCCTCTCAAAATGACTTGAA	0.498000													13	63					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36169300	36169300	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:36169300C>T	ENST00000357641.6	+	2	1454	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	BRPF3_ENST00000534694.1_Missense_Mutation_p.P401S|BRPF3_ENST00000443324.2_Missense_Mutation_p.P401S|BRPF3_ENST00000534400.1_Missense_Mutation_p.P401S|BRPF3_ENST00000543502.1_Missense_Mutation_p.P401S|BRPF3_ENST00000339717.7_Missense_Mutation_p.P401S	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	401					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GGGCGACTCCCCTAGAAGCAT	0.577000													5	21					0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1479899	1479899	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:1479899G>A	ENST00000571650.1	-	14	1858	c.1552C>T	c.(1552-1554)Cct>Tct	p.P518S	SLC43A2_ENST00000301335.4_Missense_Mutation_p.P514S|SLC43A2_ENST00000412517.3_Missense_Mutation_p.P377S|SLC43A2_ENST00000382147.4_Missense_Mutation_p.P518S			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	514					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		ACCCACAGAGGGTCTCCCTGG	0.662000													22	28					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645310	122645310	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:122645310G>A	ENST00000195173.4	-	9	1368	c.1065C>T	c.(1063-1065)taC>taT	p.Y355Y	SEMA5B_ENST00000357599.3_Silent_p.Y355Y|SEMA5B_ENST00000451055.2_Silent_p.Y409Y			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	355	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCTCGTTATAGTAGAAGGGGA	0.597000													9	44					0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633346	106633346	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:106633346G>A	ENST00000378026.4	-	2	1401	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	422						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CACCTGCATGGAGAGCACCCC	0.657000													24	53					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200072	155200072	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:155200072G>A	ENST00000460012.1	-	23	4010	c.3653C>T	c.(3652-3654)cCg>cTg	p.P1218L	PLCH1_ENST00000334686.6_Missense_Mutation_p.P1218L|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1218L|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1256L|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1256					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P1218L(1)|p.P1256L(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TATCAGCTCCGGAGATGAGCA	0.473000													21	84					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45292715	45292715	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:45292715G>A	ENST00000447098.2	-	17	2565	c.2554C>T	c.(2554-2556)Cca>Tca	p.P852S	PTCH2_ENST00000372192.3_Missense_Mutation_p.P852S	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	852					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)					AGCTCGGGTGGAATCAGTCCC	0.627000									Basal Cell Nevus syndrome				60	153					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54851971	54851971	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:54851971G>A	ENST00000333896.5	+	10	1559	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	SPTBN1_ENST00000356805.4_Missense_Mutation_p.E405K	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	405					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)			AGCGGAACACGAAAGAGAACT	0.473000													12	24					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15654826	15654826	+	Silent	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:15654826A>G	ENST00000269703.2	+	9	1183	c.984A>G	c.(982-984)gaA>gaG	p.E328E	CYP4F22_ENST00000601005.2_Silent_p.E328E	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	328						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TCCGAGCCGAAGCAGACACCT	0.547000													9	54					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046488	17046488	+	RNA	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:17046488G>A	ENST00000492551.1	-	0	164					NR_026567.1																						GAAGCCTCAGGGAGGGGAAGT	0.617000													7	109					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117691498	117691498	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:117691498C>T	ENST00000317775.6	-	17	3278	c.2593G>A	c.(2593-2595)Gat>Aat	p.D865N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.D899N	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	865	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCGGGCCCATCGCCTGATGAT	0.562000													34	76					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607377	42607377	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:42607377G>A	ENST00000359486.3	-	1	4071	c.3935C>T	c.(3934-3936)cCt>cTt	p.P1312L	TCF20_ENST00000335626.4_Missense_Mutation_p.P1312L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ATCTCTCTTAGGGATAGACTT	0.473000													29	181					0	0	1	0	0
ATP5C1	509	broad.mit.edu	37	10	7842043	7842043	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:7842043T>G	ENST00000356708.7	+	6	705	c.626T>G	c.(625-627)gTt>gGt	p.V209G	ATP5C1_ENST00000541227.1_Missense_Mutation_p.V162G|ATP5C1_ENST00000335698.4_Missense_Mutation_p.V209G|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	209					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						CTTAATACCGTTGCAAGTGCT	0.338000													18	89					0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376523	75376523	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:75376523C>T	ENST00000555647.1	-	8	1280	c.993G>A	c.(991-993)agG>agA	p.R331R	RPS6KL1_ENST00000557413.1_Silent_p.R331R|RPS6KL1_ENST00000358328.4_Silent_p.R331R|RPS6KL1_ENST00000354625.2_Silent_p.R300R			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	331	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GGCCAGCCCTCCTAGCTTGAA	0.682000													7	9					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14037524	14037524	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:14037524C>A	ENST00000318003.7	+	19	2300	c.2059C>A	c.(2059-2061)Ccc>Acc	p.P687T	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P687T	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	687	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GTTTGACTTCCCCTATCCCAA	0.622000													21	130					1.85244e-09	1.90701e-09	1	1	0
FGFR4	2264	broad.mit.edu	37	5	176516672	176516672	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:176516672G>A	ENST00000292408.4	+	2	314	c.69G>A	c.(67-69)gaG>gaA	p.E23E	FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000292410.3_Silent_p.E23E|FGFR4_ENST00000502906.1_Silent_p.E23E|FGFR4_ENST00000393637.1_Silent_p.E23E|FGFR4_ENST00000393648.2_Silent_p.E23E	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	23	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TGTCCCTGGAGGCCTCTGAGG	0.642000										TSP Lung(9;0.080)			7	15					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75597249	75597249	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:75597249C>T	ENST00000502798.2	+	12	2321	c.1879C>T	c.(1879-1881)Ctt>Ttt	p.L627F	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.L627F	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	627					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTGTTTCTTCCTTTGGTTCGG	0.483000													29	111					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323914	152323914	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:152323914C>T	ENST00000388718.5	-	3	6420	c.6348G>A	c.(6346-6348)ggG>ggA	p.G2116G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2116							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTGAGACCCCTGAGTGCA	0.532000													80	511					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57441807	57441807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:57441807G>A	ENST00000442789.2	-	4	483	c.196C>T	c.(196-198)Caa>Taa	p.Q66*	MYO1A_ENST00000300119.3_Nonsense_Mutation_p.Q66*	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	66	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GTATAGTCTTGATATTTGGCA	0.483000													9	44					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808875	18808875	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:18808875G>A	ENST00000400664.1	+	1	1452	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	467						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTGCTGCGCAGCCCGGAC	0.642000													22	102					0	0	1	0	0
TIMP4	7079	broad.mit.edu	37	3	12200284	12200284	+	Silent	SNP	C	C	G	rs150776929		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:12200284C>G	ENST00000287814.4	-	1	567	c.57G>C	c.(55-57)gcG>gcC	p.A19A	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	19							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GCCGCAGCAACGCCAGCAGCC	0.706000													7	36					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69002832	69002832	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:69002832C>T	ENST00000288368.4	+	20	2409	c.2132C>T	c.(2131-2133)gCt>gTt	p.A711V	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	711	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCTGCAGCAGCTGGTCTTCAC	0.393000													7	57					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446754	226446754	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:226446754C>T	ENST00000272907.6	+	4	1034	c.621C>T	c.(619-621)ttC>ttT	p.F207F	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	207																	GCACATCTTTCGATGAAACGT	0.567000													29	242					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43042383	43042383	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:43042383G>A	ENST00000316099.3	+	4	524	c.435G>A	c.(433-435)gaG>gaA	p.E145E	HNF4A_ENST00000457232.1_Silent_p.E123E|HNF4A_ENST00000443598.2_Silent_p.E145E|HNF4A_ENST00000415691.1_Silent_p.E145E	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	145					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAAGCTATGAGGACAGCAGCC	0.632000													6	33					0	0	1	0	0
CERS6	253782	broad.mit.edu	37	2	169417815	169417815	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:169417815G>A	ENST00000305747.6	+	3	977	c.390G>A	c.(388-390)acG>acA	p.T130T	CERS6_ENST00000392687.4_Silent_p.T130T	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	130	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCACGCTGACGAGGTTCTGTG	0.463000													17	85					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62989953	62989953	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:62989953G>A	ENST00000561311.1	+	14	1589	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	TLN2_ENST00000306829.6_Silent_p.P453P			Q9Y4G6	TLN2_HUMAN	talin 2	453					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGCGCTGCCGGCCGTGATGC	0.642000													38	80					0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239054411	239054411	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:239054411T>A	ENST00000409223.1	+	5	1195	c.1088T>A	c.(1087-1089)aTg>aAg	p.M363K	KLHL30_ENST00000305959.4_Missense_Mutation_p.M345K			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	363										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTGGCGCCCATGCTGAAGCCC	0.667000													4	11					0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31477560	31477560	+	Splice_Site	SNP	G	G	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:31477560G>C	ENST00000252229.6	+	6	1105	c.1024_splice	c.e6-1	p.E342_splice	MICB_ENST00000538442.1_Splice_Site_p.E310_splice|MICB_ENST00000399150.3_Splice_Site_p.E299_splice	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	342					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	p.E342D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CTTCTCCAGAGCTTGTGAGCC	0.522000													6	121					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126202263	126202263	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:126202263C>T	ENST00000290868.2	-	19	1892	c.1839G>A	c.(1837-1839)ccG>ccA	p.P613P	UROC1_ENST00000383579.3_Silent_p.P673P	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	613					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCTCGGCCTCCGGGGTACCGT	0.622000													12	51					0	0	1	0	0
FBXO32	114907	broad.mit.edu	37	8	124518793	124518793	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:124518793A>G	ENST00000517956.1	-	7	864	c.673T>C	c.(673-675)Ttc>Ctc	p.F225L	FBXO32_ENST00000443022.2_Missense_Mutation_p.F132L	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	225	F-box.									autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGTCAGTGAAGGTGAGGCCT	0.627000													17	66					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701854	143701854	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:143701854C>A	ENST00000408922.2	+	1	833	c.765C>A	c.(763-765)ttC>ttA	p.F255L		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCATTATTTTCATGTATGCTC	0.423000													44	86					1.15183e-24	1.21015e-24	1	1	0
MUC16	94025	broad.mit.edu	37	19	9058106	9058106	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:9058106G>A	ENST00000397910.4	-	3	29543	c.29340C>T	c.(29338-29340)acC>acT	p.T9780T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9782	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						GAGATGAACTGGTTTTAGGCT	0.473000													14	39					0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36207628	36207628	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:36207628T>G	ENST00000392197.2	+	7	1756	c.1438T>G	c.(1438-1440)Tgt>Ggt	p.C480G	ZBTB32_ENST00000262630.3_Missense_Mutation_p.C480G			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	480					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACCTCTCCCTGTTGTCCTTC	0.627000											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	114					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40430449	40430449	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:40430449C>T	ENST00000221347.6	-	3	1501	c.1494G>A	c.(1492-1494)atG>atA	p.M498I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	498	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGCTCCACCATCGTGTACG	0.677000													8	10					0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110726086	110726086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:110726086G>A	ENST00000368924.3	-	4	448	c.433C>T	c.(433-435)Cga>Tga	p.R145*	DDO_ENST00000368923.3_Intron|DDO_ENST00000368925.1_Nonsense_Mutation_p.R117*	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	117					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	p.R145*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GTCATCTTTCGAAATCCCAGA	0.463000													24	30					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777966	183777966	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:183777966G>A	ENST00000318351.1	+	9	1204	c.1170G>A	c.(1168-1170)ggG>ggA	p.G390G		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	390						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGTTAGCAGGGAAGAAGCTGG	0.607000													15	37					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1488424	1488424	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:1488424G>A	ENST00000345913.4	+	9	1486	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q	TPO_ENST00000382198.1_Silent_p.Q292Q|TPO_ENST00000382201.3_Silent_p.Q465Q|TPO_ENST00000346956.3_Silent_p.Q465Q|TPO_ENST00000337415.3_Silent_p.Q465Q|TPO_ENST00000329066.4_Silent_p.Q465Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.Q292Q	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	465					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTTCCAGCAGTACGTGGGTC	0.587000													5	28					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994042	140994042	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:140994042C>T	ENST00000285879.4	+	4	1138	c.852C>T	c.(850-852)ttC>ttT	p.F284F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	284							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCTTTTCCAGAGTTCCC	0.493000										HNSCC(15;0.026)			18	37					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144101650	144101650	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:144101650G>A	ENST00000467773.1	-	2	208	c.210_splice	c.e2+1	p.S70_splice	NOBOX_ENST00000483238.1_Splice_Site_p.S70_splice	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	70					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)					ccCCCGTACTGATTTGAGGGT	0.557000													26	29					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66053984	66053984	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:66053984C>T	ENST00000503581.1	-	10	2083	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	EYS_ENST00000393380.2_Missense_Mutation_p.D516N|EYS_ENST00000342421.5_Missense_Mutation_p.D516N|EYS_ENST00000370618.3_Missense_Mutation_p.D516N|EYS_ENST00000370621.3_Missense_Mutation_p.D516N|EYS_ENST00000370616.2_Missense_Mutation_p.D516N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	516					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTTCAGGATCGTTCACATAG	0.373000													26	31					0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116609279	116609279	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:116609279C>T	ENST00000369503.4	+	11	1634	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C		NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	502					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTATTCGTATCGCAGGCTGGG	0.478000													3	13					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3817765	3817765	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:3817765C>T	ENST00000262367.5	-	16	4015	c.3206G>A	c.(3205-3207)gGc>gAc	p.G1069D	CREBBP_ENST00000382070.3_Missense_Mutation_p.G1031D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1069					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.G1069D(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGAGGCTGTGCCGTTACTGCT	0.428000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						4	106					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114176709	114176709	+	Splice_Site	SNP	C	C	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:114176709C>G	ENST00000259335.4	-	20	2520	c.2521_splice	c.e20+1	p.G841_splice	KIAA0368_ENST00000338205.5_Splice_Site_p.G663_splice	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATATTCCTACCTCCAACACCT	0.413000													12	45					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72030342	72030342	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:72030342G>A	ENST00000355327.3	+	11	2036	c.1902G>A	c.(1900-1902)ggG>ggA	p.G634G	THSD4_ENST00000261862.6_Silent_p.G634G|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Silent_p.G274G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	634						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGACCTGTGGGAAAGGTGAGC	0.627000													5	30					0	0	1	0	0
PRODH	5625	broad.mit.edu	37	22	18905833	18905833	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:18905833G>A	ENST00000357068.6	-	11	1688	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y	PRODH_ENST00000420436.1_Missense_Mutation_p.H367Y|PRODH_ENST00000334029.2_Missense_Mutation_p.H367Y	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	475					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GCGCACCTGTGGTACATGGCG	0.642000													7	87					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24738754	24738754	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:24738754C>T	ENST00000545231.1	-	12	2040	c.890G>A	c.(889-891)aGa>aAa	p.R297K	DFNA5_ENST00000342947.3_Missense_Mutation_p.R461K|DFNA5_ENST00000409970.1_Missense_Mutation_p.R297K|DFNA5_ENST00000409775.3_Missense_Mutation_p.R461K|DFNA5_ENST00000419307.1_Missense_Mutation_p.R297K			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	461					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TGACTTCAGTCTCTCCAGACT	0.453000													23	31					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31311980	31311980	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:31311980G>A	ENST00000269197.5	+	9	928	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	310					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						TCTAAATAATGAATTCTTTGC	0.378000													21	68					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230456371	230456371	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:230456371C>T	ENST00000341772.4	-	2	644	c.510G>A	c.(508-510)caG>caA	p.Q170Q		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	170					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCACCGTTGCCTGAGAGCGAG	0.537000													27	34					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75581618	75581618	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:75581618G>A	ENST00000502798.2	+	6	1502	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.D354N	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	354					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGGAAAACATGATGAAGCTTG	0.473000													4	42					0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95262811	95262811	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:95262811C>T	ENST00000297596.2	-	5	882	c.618G>A	c.(616-618)ggG>ggA	p.G206G	GEM_ENST00000396194.2_Silent_p.G206G	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	206					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CACAGGCTCTCCCTTCTGGGA	0.532000													5	20					0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782113	134782113	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:134782113G>A	ENST00000503143.2	-	1	925	c.686C>T	c.(685-687)cCa>cTa	p.P229L	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	229	Ser-rich.					nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAATGCAGTGGAGGTTGTTG	0.572000													11	52					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459632	107459632	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:107459632C>T	ENST00000409382.3	-	2	1412	c.802G>A	c.(802-804)Gag>Aag	p.E268K	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.E268K|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E268K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	268					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						AAGGGCGCCTCGGTGCCGTCC	0.766000													4	5					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195447909	195447909	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:195447909C>T	ENST00000320736.6	+	1	157	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	MUC20_ENST00000447234.2_Missense_Mutation_p.L11F|MUC20_ENST00000436408.1_Missense_Mutation_p.L11F|MUC20_ENST00000485430.1_3'UTR	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	11					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GGCTCTGCCCCTTTTCTTCTT	0.617000													3	10					0	0	1	0	0
MUM1	84939	broad.mit.edu	37	19	1360163	1360163	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:1360163C>T	ENST00000311401.5	+	5	425	c.39C>T	c.(37-39)ccC>ccT	p.P13P	MUM1_ENST00000415183.3_Silent_p.P82P|MUM1_ENST00000591806.1_Silent_p.P82P|MUM1_ENST00000344663.3_Silent_p.P82P			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	81					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGGCACCCCTGGAAGAAC	0.577000											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	49					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60545107	60545107	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:60545107G>A	ENST00000400324.4	-	16	2058	c.1838C>T	c.(1837-1839)cCa>cTa	p.P613L	DIAPH3_ENST00000267215.4_Missense_Mutation_p.P613L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P602L|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P543L|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P567L|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P613L	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	613	FH1.|Pro-rich.			P -> L (in Ref. 3; BAE96351).	actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAGGGGAGGTGGTGGAGGCAC	0.547000													5	52					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53164932	53164932	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:53164932G>A	ENST00000332411.2	-	7	1388	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	445	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTTGGAGCTTGGCATTGGCGT	0.552000													20	80					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023102	18023102	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:18023102G>A	ENST00000205890.5	+	2	1326	c.988G>A	c.(988-990)Gat>Aat	p.D330N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	330	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGCTACCACGATGGGTACGA	0.612000													46	41					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46920197	46920197	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:46920197G>A	ENST00000378623.1	-	7	950	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	236	LDL-receptor class A 6.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|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)		TGTCACACATGAACTCCCCAG	0.582000													41	145					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632953	169632953	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:169632953C>T	ENST00000335742.7	+	10	2054	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	PALLD_ENST00000261509.6_Missense_Mutation_p.P615S|PALLD_ENST00000505667.1_Missense_Mutation_p.P615S|PALLD_ENST00000512127.1_Missense_Mutation_p.P233S			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	615					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CGGAGTCCATCCCAGCCGTGG	0.507000									Pancreatic Cancer, Familial Clustering of				21	33					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872200	213872200	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:213872200G>A	ENST00000457361.1	-	8	1633	c.1465C>T	c.(1465-1467)Cac>Tac	p.H489Y	IKZF2_ENST00000374327.4_Missense_Mutation_p.H344Y|IKZF2_ENST00000421754.2_Missense_Mutation_p.H415Y|IKZF2_ENST00000434687.1_Missense_Mutation_p.H489Y|IKZF2_ENST00000342002.2_Missense_Mutation_p.H495Y|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.H417Y|IKZF2_ENST00000374319.4_Missense_Mutation_p.H463Y	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CAACCCATGTGAATGGTGTAC	0.498000													38	123					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974126	35974126	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:35974126C>T	ENST00000297866.5	+	8	1289	c.1223C>T	c.(1222-1224)cCt>cTt	p.P408L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	408										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACAGGACTTCCTGTTTTACTA	0.373000													53	35					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566574	136566574	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:136566574C>A	ENST00000264162.2	-	8	3353	c.3343G>T	c.(3343-3345)Gag>Tag	p.E1115*		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1115	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)		CCCTTCTGCTCCTGCCTGTAT	0.582000													25	90					3.69857e-22	3.8797e-22	1	1	0
MAPK3	5595	broad.mit.edu	37	16	30133193	30133193	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:30133193C>T	ENST00000403394.1	-	2	404	c.305G>A	c.(304-306)gGc>gAc	p.G102D	MAPK3_ENST00000395202.1_Missense_Mutation_p.G102D|MAPK3_ENST00000263025.4_Missense_Mutation_p.G102D|MAPK3_ENST00000395199.3_Missense_Mutation_p.G102D|MAPK3_ENST00000484663.1_5'UTR|MAPK3_ENST00000322266.5_Missense_Mutation_p.G102D|MAPK3_ENST00000395200.1_Missense_Mutation_p.G73D	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	102	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GTCTCGGATGCCGATGACATT	0.607000													3	26					0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22107920	22107920	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:22107920C>T	ENST00000397802.4	+	8	1301	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	POLR3D_ENST00000306433.4_Silent_p.S362S			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	362					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGCTGGTGTCCGTGGGCCTTG	0.532000													13	31					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22846965	22846965	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:22846965G>A	ENST00000456783.2	+	4	738	c.494G>A	c.(493-495)gGa>gAa	p.G165E		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATTCATAGTGGAGAGAAACCC	0.333000													3	16					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8203090	8203090	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:8203090C>T	ENST00000600128.1	-	10	1550	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R379Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R379Q			Q75N90	FBN3_HUMAN	fibrillin 3	379						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGGTTGAGTCGCGCTGGCCC	0.662000													4	33					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72204733	72204733	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:72204733G>A	ENST00000305425.4	-	3	1509	c.1087C>T	c.(1087-1089)Caa>Taa	p.Q363*	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Nonsense_Mutation_p.Q363*|DACH1_ENST00000313174.7_Nonsense_Mutation_p.Q363*	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	361	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GCTCCATGTTGGTTATTACTG	0.408000													55	185					0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428794	56428794	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:56428794C>T	ENST00000262032.5	+	12	1804	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	IKZF4_ENST00000547791.1_Silent_p.P434P|IKZF4_ENST00000547167.1_Silent_p.P479P|IKZF4_ENST00000431367.2_Silent_p.P377P|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	479					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTCCCCCACCCCAGCCACCTC	0.657000													26	19					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130509465	130509465	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:130509465G>A	ENST00000314830.8	-	6	1338	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S	SH2D3C_ENST00000429553.1_Missense_Mutation_p.P55S|SH2D3C_ENST00000420366.1_Missense_Mutation_p.P251S|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Missense_Mutation_p.P249S|SH2D3C_ENST00000373277.4_Missense_Mutation_p.P252S|SH2D3C_ENST00000373276.3_Missense_Mutation_p.P341S	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	409					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCGGAGATGGGCGACATGGGT	0.622000													13	54					0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27837968	27837968	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:27837968C>T	ENST00000261716.3	+	15	2181	c.1662C>T	c.(1660-1662)tcC>tcT	p.S554S	TAOK1_ENST00000536202.1_Silent_p.S554S	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	554					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTCTCGAGTCCCAGAAAAGAG	0.333000													53	44					0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23546250	23546250	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:23546250G>A	ENST00000449606.1	-	4	948	c.917C>T	c.(916-918)tCc>tTc	p.S306F	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.S306F|EARS2_ENST00000563232.1_Missense_Mutation_p.S306F|EARS2_ENST00000563459.1_Missense_Mutation_p.S306F	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	306					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	GTCCAACAAGGAATCGGGCAG	0.577000													7	15					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125175121	125175121	+	Silent	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:125175121C>A	ENST00000431078.1	+	4	847	c.483C>A	c.(481-483)ccC>ccA	p.P161P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	161	F5/8 type C.				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)		AATGGAATCCCAGTGGGAAGA	0.507000													4	19					5.9392e-07	6.06712e-07	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165987910	165987910	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:165987910G>A	ENST00000360093.3	-	16	2900	c.2409C>T	c.(2407-2409)ttC>ttT	p.F803F	SCN3A_ENST00000409101.3_Silent_p.F754F|SCN3A_ENST00000283254.7_Silent_p.F803F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	803						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)	TTTCTGCTGTGAAAATCCCAG	0.358000													12	83					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624176	53624176	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:53624176C>T	ENST00000219022.2	+	5	881	c.803C>T	c.(802-804)tCt>tTt	p.S268F		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	268	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AGAGGGTTTTCTTATCTATAT	0.468000													6	78					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043064	20043064	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:20043064G>A	ENST00000570682.1	-	2	1355	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	352						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GAATCACGGGGATACTTTTAT	0.473000													20	78					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15795921	15795921	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:15795921C>T	ENST00000550308.1	+	9	1409	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	CYP4F12_ENST00000324632.9_Silent_p.N343N	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											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)					TCCTGTACAACCTTGCGAGGC	0.592000													18	41					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733095	152733095	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:152733095C>T	ENST00000368773.1	+	2	1089	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	KPRP_ENST00000606109.1_Missense_Mutation_p.P344L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	344	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGGTGTCCTGTTGAGATT	0.657000													24	47					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7811348	7811348	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:7811348T>G	ENST00000315599.7	-	3	198	c.176A>C	c.(175-177)cAa>cCa	p.Q59P	CD209_ENST00000601256.1_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.Q59P|CD209_ENST00000315591.8_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000601951.1_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.Q59P|CD209_ENST00000301357.8_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.Q59P|CD209_ENST00000593821.1_Intron|CD209_ENST00000394161.5_Missense_Mutation_p.Q59P|CD209_ENST00000204801.8_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	59					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCTGACCTTGGACAAGGAG	0.632000													15	76					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47241455	47241455	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:47241455G>A	ENST00000391910.3	-	3	876	c.426C>T	c.(424-426)aaC>aaT	p.N142N	STRN4_ENST00000539396.1_Silent_p.N23N|STRN4_ENST00000263280.6_Silent_p.N142N			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	142						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TCTCCCCCTGGTTCAGGTCTG	0.488000													35	89					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40141507	40141507	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:40141507G>A	ENST00000373233.3	-	5	1007	c.830C>T	c.(829-831)tCt>tTt	p.S277F	CHD6_ENST00000309279.7_Missense_Mutation_p.S277F|CHD6_ENST00000373222.3_Missense_Mutation_p.S312F	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	277					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA 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)				GGCCAGTGTAGAGGCTGAGAG	0.502000													158	236					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7681646	7681646	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:7681646C>T	ENST00000572933.1	+	35	6860	c.5400C>T	c.(5398-5400)tcC>tcT	p.S1800S	DNAH2_ENST00000389173.2_Silent_p.S1800S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1800	AAA 1 (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)				GAGGGGGCTCCCCCAAAGGCC	0.582000													30	36					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141773931	141773931	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:141773931G>A	ENST00000475668.2	+	45	5287	c.5233G>A	c.(5233-5235)Gaa>Aaa	p.E1745K	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1745	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGAAAACAAAGAAGCAAAAGG	0.443000													10	68					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105152738	105152738	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:105152738G>A	ENST00000428173.2	+	13	1411	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	NRK_ENST00000243300.9_Missense_Mutation_p.E369K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	369							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTGCACTCACGAGCTTCTGAG	0.463000										HNSCC(51;0.14)			9	21					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167798536	167798536	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:167798536T>C	ENST00000367848.1	-	26	3940	c.3443A>G	c.(3442-3444)aAt>aGt	p.N1148S	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.N1240S|ADCY10_ENST00000545172.1_Missense_Mutation_p.N1087S			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1240					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CAGTGCAGTATTCATTTGCAT	0.418000													4	84					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138958809	138958809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:138958809G>A	ENST00000288561.8	+	11	1962	c.1713G>A	c.(1711-1713)tgG>tgA	p.W571*	UBN2_ENST00000473989.2_Nonsense_Mutation_p.W654*	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	654										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						CTAAGGGCTGGATGCAGGCAA	0.358000													25	31					0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158364577	158364577	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:158364577T>C	ENST00000486715.1	+	4	770	c.413T>C	c.(412-414)tTg>tCg	p.L138S	GFM1_ENST00000264263.5_Missense_Mutation_p.L138S|GFM1_ENST00000478576.1_Missense_Mutation_p.L138S	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	138					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTGAGAGTGTTGGATGGTGCA	0.448000													6	32					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24193159	24193159	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:24193159G>A	ENST00000437154.2	+	14	1611	c.1572G>A	c.(1570-1572)agG>agA	p.R524R	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Silent_p.R291R|ADAM28_ENST00000265769.4_Intron|ADAM28_ENST00000397649.3_Intron	NM_021777.3	NP_068547.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	524	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GACCAGGTAGGAGGACAAATC	0.512000													4	14					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14037523	14037523	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:14037523C>T	ENST00000318003.7	+	19	2299	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	CC2D1A_ENST00000589606.1_Silent_p.F686F	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	686	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGTTTGACTTCCCCTATCCCA	0.622000													24	130					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190742075	190742075	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:190742075G>A	ENST00000441310.2	+	13	2945	c.2712G>A	c.(2710-2712)atG>atA	p.M904I	PMS1_ENST00000447232.2_Missense_Mutation_p.M742I|PMS1_ENST00000409823.3_Missense_Mutation_p.M865I|PMS1_ENST00000432292.3_Missense_Mutation_p.M728I|PMS1_ENST00000418224.3_Missense_Mutation_p.M728I	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	904					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCTACAGAATGAAGCACCAGT	0.373000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					7	61					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29608202	29608202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:29608202C>T	ENST00000318184.5	-	20	2416	c.2417G>A	c.(2416-2418)tGg>tAg	p.W806*	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	806	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGATTGGATCCAGTCCAAGAA	0.418000													38	51					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22073613	22073613	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:22073613G>A	ENST00000308271.9	-	8	1586	c.938C>T	c.(937-939)aCc>aTc	p.T313I	USP48_ENST00000400301.1_Missense_Mutation_p.T313I|USP48_ENST00000529637.1_Missense_Mutation_p.T313I|USP48_ENST00000421625.2_Missense_Mutation_p.T313I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	313					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GCCAATGTAGGTATTCAGCTT	0.313000													4	26					0	0	1	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6624812	6624812	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:6624812T>G	ENST00000396706.2	+	7	1105	c.662T>G	c.(661-663)gTg>gGg	p.V221G	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.V221G|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.V221G|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.V221G|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.V221G|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.V221G			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	221						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CACTTGGTGGTGATGTCAGAT	0.488000													31	50					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90041078	90041078	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:90041078C>T	ENST00000405460.2	+	51	10861	c.10765C>T	c.(10765-10767)Cct>Tct	p.P3589S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3589	Calx-beta 23.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		TGACTTTATTCCTAGGTAGGT	0.338000													11	51					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134906683	134906683	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:134906683A>T	ENST00000607359.1	+	10	1954	c.1954A>T	c.(1954-1956)Agg>Tgg	p.R652W	GPR123_ENST00000392607.3_Intron			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	213						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCTCACCCGCAGGGAGGAAGA	0.557000													3	5					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914840	31914840	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:31914840C>T	ENST00000456570.1	+	15	1916	c.1861C>T	c.(1861-1863)Ccc>Tcc	p.P621S	CFB_ENST00000425368.2_Missense_Mutation_p.P119S|CFB_ENST00000477310.1_Missense_Mutation_p.P470S|CFB_ENST00000556679.1_Missense_Mutation_p.P621S			P00751	CFAB_HUMAN	complement factor B	119	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCCCCGGTCTCCCTACTACAA	0.537000													47	55					0	0	1	0	0
GPR153	387509	broad.mit.edu	37	1	6311561	6311561	+	Silent	SNP	G	G	A	rs148652706		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:6311561G>A	ENST00000377893.2	-	4	1075	c.816C>T	c.(814-816)gaC>gaT	p.D272D		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	272						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GCGCTGAGGCGTCGGCCCGCA	0.701000													13	23					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47241454	47241454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:47241454G>A	ENST00000391910.3	-	3	877	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	STRN4_ENST00000539396.1_Nonsense_Mutation_p.Q24*|STRN4_ENST00000263280.6_Nonsense_Mutation_p.Q143*			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	143						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TTCTCCCCCTGGTTCAGGTCT	0.488000													36	90					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123785786	123785786	+	Silent	SNP	T	T	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:123785786T>G	ENST00000422452.2	-	8	1620	c.1557A>C	c.(1555-1557)gtA>gtC	p.V519V	TENM1_ENST00000371130.3_Silent_p.V519V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTAACACGAATACTTGCTCCA	0.408000													36	40					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9676088	9676088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:9676088C>T	ENST00000330255.4	-	5	738	c.726G>A	c.(724-726)tgG>tgA	p.W242*	DHRS7C_ENST00000571134.1_Nonsense_Mutation_p.W241*	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	242						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCTCACATTTCCAAATGGAAG	0.547000													18	24					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212039	8212039	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:8212039C>T	ENST00000307637.4	-	2	946	c.743G>A	c.(742-744)aGg>aAg	p.R248K		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	248					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ACTTGTTAACCTAGCAGAACC	0.423000													4	86					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144361299	144361299	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:144361299T>A	ENST00000262995.4	+	6	1776	c.1349T>A	c.(1348-1350)aTg>aAg	p.M450K	GAB1_ENST00000262994.4_Missense_Mutation_p.M450K|GAB1_ENST00000505913.1_Missense_Mutation_p.M347K	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	450	Pro-rich.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TACGTCCCAATGAATCCCAAT	0.353000													38	61					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084615	53084615	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:53084615C>T	ENST00000276480.7	-	10	1489	c.806G>A	c.(805-807)gGc>gAc	p.G269D		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	269						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGGGCATTGCCATCCAGGGG	0.498000													19	71					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157370803	157370803	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:157370803G>A	ENST00000389413.3	-	17	2542	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	PTPRN2_ENST00000409483.1_Silent_p.I804I|PTPRN2_ENST00000389416.4_Silent_p.I825I|PTPRN2_ENST00000404321.2_Silent_p.I865I|PTPRN2_ENST00000389418.4_Silent_p.I842I	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	842	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCAGCATGACGATCACCACGC	0.592000													33	33					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117698398	117698398	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:117698398C>T	ENST00000317775.6	-	14	2924	c.2239G>A	c.(2239-2241)Gcc>Acc	p.A747T	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.A747T	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	747	Calmodulin-binding (Potential).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATCAGCTTGGCCGAGAACTTG	0.517000													20	41					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171501964	171501964	+	Silent	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:171501964A>G	ENST00000367742.3	+	12	1979	c.1737A>G	c.(1735-1737)ctA>ctG	p.L579L	PRRC2C_ENST00000426496.2_Silent_p.L577L|PRRC2C_ENST00000392078.3_Silent_p.L579L|PRRC2C_ENST00000338920.4_Silent_p.L577L			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	577	Glu-rich.						protein C-terminus binding										aaaaagaaCTACAAAAGATGA	0.373000													3	18					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131476520	131476520	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:131476520G>A	ENST00000291906.4	+	11	1750	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	453					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CGGCATGGCGGCCTGGGGGCG	0.647000													26	110					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583161	82583161	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:82583161C>T	ENST00000423517.2	-	5	7445	c.7108G>A	c.(7108-7110)Gaa>Aaa	p.E2370K	PCLO_ENST00000333891.8_Missense_Mutation_p.E2370K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2301	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						GCAGGTTTTTCCTGACCAAAG	0.438000													4	36					0	0	1	0	0
GCNT3	9245	broad.mit.edu	37	15	59911080	59911080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:59911080C>T	ENST00000396065.1	+	3	1091	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	GCNT3_ENST00000560585.1_Nonsense_Mutation_p.Q215*	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	215					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGACTTGCTCCAGAGCTCAGT	0.498000													23	130					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659242	77659242	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:77659242G>A	ENST00000316249.3	+	2	827	c.827G>A	c.(826-828)gGg>gAg	p.G276E	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	276					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGCCCGGGCGGGACCAAGCTC	0.711000													5	31					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287885	46287885	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:46287885A>T	ENST00000378966.3	+	2	1033	c.617A>T	c.(616-618)aAg>aTg	p.K206M	SPERT_ENST00000310521.1_Missense_Mutation_p.K242M			Q8NA61	SPERT_HUMAN	spermatid associated	242						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCCGTGGCAAGGAGGACAGC	0.682000													7	14					0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67522831	67522831	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:67522831G>C	ENST00000590474.1	+	10	1149	c.862G>C	c.(862-864)Gtt>Ctt	p.V288L	MAP2K6_ENST00000589647.1_Missense_Mutation_p.V232L	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	288	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGCAGAGTTTGTTGACTTTAC	0.473000													6	38					0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25316963	25316963	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:25316963C>T	ENST00000302874.4	+	3	294	c.270C>T	c.(268-270)gcC>gcT	p.A90A	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	90							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GACTTGCTGCCCGAGAAGCTC	0.438000													43	88					0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1502836	1502836	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:1502836C>T	ENST00000382745.4	-	15	1878	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	CLCN7_ENST00000262318.8_Missense_Mutation_p.A401T|CLCN7_ENST00000448525.1_Missense_Mutation_p.A401T	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	425						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAACTGTGGCCGTGACGGCG	0.677000													4	9					0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56429091	56429091	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:56429091C>T	ENST00000262032.5	+	12	2101	c.1734C>T	c.(1732-1734)gtC>gtT	p.V578V	IKZF4_ENST00000547791.1_Silent_p.V533V|IKZF4_ENST00000547167.1_Silent_p.V578V|IKZF4_ENST00000431367.2_Silent_p.V476V|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	578					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCCACATTGTCCGGGGGGAGC	0.552000													33	276					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9321521	9321521	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:9321521G>A	ENST00000261336.2	-	17	2079	c.2051C>T	c.(2050-2052)tCg>tTg	p.S684L	PZP_ENST00000381997.2_Missense_Mutation_p.S553L	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GACTGAACACGACTTTGGTTT	0.363000													25	71					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117718532	117718532	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:117718532C>T	ENST00000317775.6	-	8	2207	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.E508K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	508					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCTCGCACCTCTGTGAACTGC	0.592000													13	118					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590082	140590082	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:140590082G>A	ENST00000239450.2	+	1	1792	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D198N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		535	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCGCCACAGACCACGGCTC	0.672000													25	62					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651282	142651282	+	Missense_Mutation	SNP	C	C	T	rs61729044		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:142651282C>T	ENST00000355265.2	-	8	1387	c.913G>A	c.(913-915)Gac>Aac	p.D305N	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	305					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TTGAGCTGGTCGATAGTGACC	0.557000													4	36					0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1175199	1175199	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:1175199C>T	ENST00000358220.1	+	14	1544	c.1400C>T	c.(1399-1401)cCc>cTc	p.P467L	WDR37_ENST00000263150.4_Missense_Mutation_p.P467L			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	467										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GAAGACCACCCCGTGTGCAAT	0.483000													19	47					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18755128	18755128	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:18755128G>A	ENST00000396170.1	-	10	2223	c.959C>T	c.(958-960)tCc>tTc	p.S320F	PTPN5_ENST00000477854.1_Missense_Mutation_p.S156F|PTPN5_ENST00000358540.2_Missense_Mutation_p.S352F|PTPN5_ENST00000396167.2_Missense_Mutation_p.S320F|PTPN5_ENST00000396171.4_Missense_Mutation_p.S352F|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Missense_Mutation_p.S328F	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	352	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						ATTGATGTAGGAACTCAGAGG	0.582000													26	75					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467763	74467763	+	Silent	SNP	C	C	T	rs138253214		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:74467763C>T	ENST00000249842.3	+	2	921	c.564C>T	c.(562-564)atC>atT	p.I188I	ISLR_ENST00000395118.1_Silent_p.I188I|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	188	LRRCT.				cell adhesion	extracellular region		p.I188I(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CCTGCGGCATCGTGTGGCTCA	0.637000													7	40					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198809	15198809	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:15198809C>T	ENST00000209540.2	+	1	1019	c.933C>T	c.(931-933)ccC>ccT	p.P311P		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TGGCCGTCCCCTGTCCTAGGC	0.537000													11	34					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389530	1389530	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:1389530C>T	ENST00000324803.4	+	1	4191	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	411	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTTTCCTGTCCTGCCGGCCGA	0.527000													54	93					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233750003	233750003	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:233750003G>A	ENST00000366621.3	+	1	254	c.86G>A	c.(85-87)gGc>gAc	p.G29D		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	29						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CTGGTGCTGGGCTACTTGCTC	0.677000													7	34					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23437892	23437892	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:23437892C>T	ENST00000248996.4	+	2	676	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	RTDR1_ENST00000216036.4_Intron|GNAZ_ENST00000492538.1_3'UTR	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	4						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CATGGGATGTCGGCAAAGCTC	0.632000													16	31					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226897	149226897	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:149226897C>T	ENST00000407073.1	+	9	2382	c.1385C>T	c.(1384-1386)tCa>tTa	p.S462L	MBD5_ENST00000404807.1_Missense_Mutation_p.S462L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	462						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGATCACGCTCATCTTCCACA	0.522000													9	33					0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91177851	91177851	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:91177851C>T	ENST00000371795.4	+	2	1108	c.895C>T	c.(895-897)Caa>Taa	p.Q299*	IFIT5_ENST00000416601.1_Nonsense_Mutation_p.Q251*	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	299							binding			endometrium(1)|large_intestine(4)|lung(4)	9						ACAAATGATCCAAATCAAGAA	0.418000													50	79					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635291	7635291	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:7635291G>A	ENST00000359156.4	-	14	3397	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_ENST00000396620.3_Silent_p.F1098F|CD163_ENST00000541972.1_Silent_p.F1053F|CD163_ENST00000432237.2_Silent_p.F1065F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1065					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAATGCGACGAAAATGGCCA	0.423000													44	84					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160283	51160283	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:51160283C>T	ENST00000414786.2	+	21	4207	c.3980C>T	c.(3979-3981)cCc>cTc	p.P1327L	SHANK3_ENST00000262795.3_Missense_Mutation_p.P1357L|SHANK3_ENST00000445220.2_Missense_Mutation_p.P1343L			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1357										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TCAGGGAAGCCCAGCAGTGAG	0.711000													3	11					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													5	29					0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714842	55714842	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:55714842C>T	ENST00000379668.2	+	1	497	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CATTCTTAATCATATTCCCAG	0.393000													3	23					0	0	1	0	0
KIAA0513	9764	broad.mit.edu	37	16	85112545	85112545	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:85112545C>A	ENST00000566428.1	+	8	1469	c.838C>A	c.(838-840)Ccc>Acc	p.P280T	KIAA0513_ENST00000538274.1_Missense_Mutation_p.P280T|KIAA0513_ENST00000567328.1_Missense_Mutation_p.P280T|KIAA0513_ENST00000258180.3_Missense_Mutation_p.P280T			O60268	K0513_HUMAN	KIAA0513	280						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CGCGTACAGCCCCGAGGACGA	0.607000													6	77					0.0293803	0.0294691	1	1	0
COBLL1	22837	broad.mit.edu	37	2	165586572	165586572	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:165586572G>A	ENST00000375458.2	-	3	505	c.284C>T	c.(283-285)cCa>cTa	p.P95L	COBLL1_ENST00000342193.4_Missense_Mutation_p.P95L|COBLL1_ENST00000194871.6_Missense_Mutation_p.P148L|COBLL1_ENST00000392717.2_Missense_Mutation_p.P133L|COBLL1_ENST00000409184.3_Missense_Mutation_p.P133L|COBLL1_ENST00000491126.2_Intron	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	133										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						GTAACTTGATGGATTTAAGTG	0.343000													20	29					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78919516	78919516	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:78919516C>T	ENST00000306801.3	+	26	3437	c.3075C>T	c.(3073-3075)gtC>gtT	p.V1025V	RPTOR_ENST00000544334.2_Silent_p.V867V|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1025					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ACCCCGGCGTCCCCTCTGTGG	0.562000													32	46					0	0	1	0	0
ODF4	146852	broad.mit.edu	37	17	8243540	8243540	+	Silent	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:8243540C>A	ENST00000328248.2	+	1	359	c.171C>A	c.(169-171)tcC>tcA	p.S57S	ODF4_ENST00000584943.1_Intron	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	57					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GTAACAGGTCCTTGGGCCAGC	0.592000													8	34					0.000274275	0.00027762	1	1	0
HLA-DOA	3111	broad.mit.edu	37	6	32974972	32974972	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:32974972G>A	ENST00000229829.5	-	4	709	c.634C>T	c.(634-636)Cca>Tca	p.P212S	HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	212	Connecting peptide.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GCATCTGGTGGTGGAATAGGC	0.572000													59	110					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	76984935	76984935	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:76984935G>A	ENST00000257626.7	-	15	1135	c.1057C>T	c.(1057-1059)Cat>Tat	p.H353Y		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		TGGAAGAAATGACCAGGTAAG	0.403000													30	47					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209973	140209973	+	Missense_Mutation	SNP	A	A	G	rs138889909	byFrequency	TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:140209973A>G	ENST00000529310.1	+	1	2411	c.2297A>G	c.(2296-2298)aAg>aGg	p.K766R	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCACCCAAGATGGATCTC	0.572000													9	43					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72666940	72666940	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:72666940G>A	ENST00000261180.4	+	1	478	c.382G>A	c.(382-384)Gag>Aag	p.E128K	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	128					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCCGTCGGAGGAGGAGCGGGA	0.711000													10	24					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	59787382	59787382	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:59787382C>T	ENST00000371218.4	+	2	345	c.161C>T	c.(160-162)tCc>tTc	p.S54F	FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Missense_Mutation_p.S54F|FGGY_ENST00000303721.7_Missense_Mutation_p.S54F	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	54					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CATGAGCAGTCCTCCGAGGAC	0.532000													7	18					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15965063	15965063	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:15965063C>A	ENST00000268712.3	-	37	5790	c.5533G>T	c.(5533-5535)Gaa>Taa	p.E1845*	NCOR1_ENST00000395857.3_Nonsense_Mutation_p.E429*|NCOR1_ENST00000395851.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1845	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGGCAGCTTCATGCTTACTC	0.507000													23	80					7.88262e-20	8.21674e-20	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25436578	25436578	+	RNA	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:25436578A>G	ENST00000424208.1	+	0	1092				SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GATGATGAGAACCTTATATTG	0.532000													111	260					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128187	3128187	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:3128187G>A	ENST00000380266.3	-	2	1851	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	510					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GTTCCTTAAGGAGGTCAAACT	0.453000													9	37					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94139701	94139701	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:94139701G>A	ENST00000553484.1	+	43	6978	c.6824G>A	c.(6823-6825)cGa>cAa	p.R2275Q	UNC79_ENST00000393151.2_Missense_Mutation_p.R2253Q|UNC79_ENST00000555664.1_Missense_Mutation_p.R2214Q|UNC79_ENST00000256339.4_Missense_Mutation_p.R2076Q			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2253						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTTAGGAACGAGATAAATTC	0.368000													38	36					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54308062	54308062	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:54308062G>A	ENST00000545554.1	+	1	2962	c.2962G>A	c.(2962-2964)Gaa>Aaa	p.E988K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E988K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E988K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	988					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)		GGCAGAGTTGGAAGAGAAGAT	0.408000													5	5					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607378	42607378	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:42607378G>A	ENST00000359486.3	-	1	4070	c.3934C>T	c.(3934-3936)Cct>Tct	p.P1312S	TCF20_ENST00000335626.4_Missense_Mutation_p.P1312S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTCTCTTAGGGATAGACTTG	0.468000													29	178					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47405721	47405721	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:47405721C>T	ENST00000295454.3	+	7	1120	c.828C>T	c.(826-828)gtC>gtT	p.V276V	GABRB1_ENST00000538619.1_Silent_p.V206V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	276					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGCCAGAGTCGCACTAGGTA	0.398000													16	35					0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586400	143586400	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:143586400C>T	ENST00000507359.2	+	2	1214	c.123C>T	c.(121-123)tcC>tcT	p.S41S	KCTD16_ENST00000512467.1_Silent_p.S41S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	41	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CTCGCCATTCCACATTGATAA	0.478000													11	42					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3652111	3652111	+	Silent	SNP	G	G	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:3652111G>T	ENST00000356518.2	-	17	2179	c.1938C>A	c.(1936-1938)gcC>gcA	p.A646A	ADAM33_ENST00000379861.4_Silent_p.A646A|ADAM33_ENST00000350009.2_Intron|ADAM33_ENST00000466620.1_Intron	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	646	Cys-rich.				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						GCTCCTGGAAGGCATTCTTCC	0.647000													24	77					2.52088e-20	2.63186e-20	1	1	0
USH1C	10083	broad.mit.edu	37	11	17537820	17537820	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:17537820G>A	ENST00000005226.7	-	15	1227	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCATCGTAACGATAAAACCAT	0.493000													4	15					0	0	1	0	0
IL3	3562	broad.mit.edu	37	5	131396680	131396680	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:131396680G>A	ENST00000296870.2	+	2	361	c.183G>A	c.(181-183)ggG>ggA	p.G61G		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	61					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	ACCTCAATGGGGAAGACCAAG	0.557000													10	35					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48500146	48500146	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:48500146G>A	ENST00000396577.3	+	2	445	c.230G>A	c.(229-231)gGa>gAa	p.G77E	SLC12A1_ENST00000380993.3_Missense_Mutation_p.G77E|SLC12A1_ENST00000330289.6_Missense_Mutation_p.G77E|SLC12A1_ENST00000558405.1_Missense_Mutation_p.G77E|SLC12A1_ENST00000561031.1_Missense_Mutation_p.G77E	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	77					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTCCAAAGTGGAGAAACTGCT	0.428000													21	51					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130929996	130929996	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:130929996G>A	ENST00000409031.1	-	8	1850	c.702C>T	c.(700-702)ttC>ttT	p.F234F	SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000351288.6_Silent_p.F234F|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000431183.2_Silent_p.F161F|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000339679.7_Silent_p.F121F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	195					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CGGTGGGCAGGAACCATGACA	0.582000													6	29					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142511691	142511691	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:142511691A>T	ENST00000273482.6	+	8	1752	c.1361A>T	c.(1360-1362)gAt>gTt	p.D454V	TRPC1_ENST00000476941.1_Missense_Mutation_p.D488V	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	488					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GATCGGAAGGATTGGGATGCA	0.368000													20	49					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100154714	100154714	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:100154714G>A	ENST00000263174.4	+	7	1273	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	PALMD_ENST00000605497.1_Missense_Mutation_p.E300K	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	300					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)		TGGTGTAAATGAATCCATACA	0.448000													11	47					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933022	39933022	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:39933022G>A	ENST00000342274.4	-	4	1939	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	BCOR_ENST00000378444.4_Missense_Mutation_p.S526L|BCOR_ENST00000397354.3_Missense_Mutation_p.S526L|BCOR_ENST00000378455.4_Missense_Mutation_p.S526L	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	526					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTTTTTCAGCGACATGCTTTT	0.537000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						21	21					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30867933	30867933	+	Silent	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:30867933T>C	ENST00000251071.5	-	15	3360	c.2610A>G	c.(2608-2610)agA>agG	p.R870R	CAPRIN2_ENST00000417045.1_Silent_p.R869R|CAPRIN2_ENST00000308433.5_Silent_p.R536R|CAPRIN2_ENST00000395805.2_Silent_p.R814R|CAPRIN2_ENST00000298892.5_Silent_p.R820R	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	870					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGGTTATTAATCTCCCACCAC	0.428000													27	102					0	0	1	0	0
NIPA1	123606	broad.mit.edu	37	15	23052681	23052681	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:23052681G>A	ENST00000437912.2	-	4	1464	c.167C>T	c.(166-168)gCa>gTa	p.A56V	NIPA1_ENST00000561183.1_Missense_Mutation_p.A56V|NIPA1_ENST00000337435.4_Missense_Mutation_p.A131V|NIPA1_ENST00000538684.1_5'UTR			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	131					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		GACGGAGCCTGCACAGCTTAG	0.458000													11	128					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065183	23065183	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:23065183G>A	ENST00000246006.4	-	1	1794	c.1647C>T	c.(1645-1647)atC>atT	p.I549I		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	549					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGCGTGATGGATGCTGGGCT	0.627000													32	83					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30779532	30779532	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:30779532C>T	ENST00000324685.6	+	13	2095	c.1660C>T	c.(1660-1662)Cct>Tct	p.P554S	RNF40_ENST00000402121.3_Missense_Mutation_p.P246S|RNF40_ENST00000563683.1_Missense_Mutation_p.P514S|RNF40_ENST00000357890.5_Missense_Mutation_p.P454S	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	554					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TGGGCCAGGCCCTGTCAGTAC	0.632000													23	54					0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113187000	113187000	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:113187000G>A	ENST00000295872.4	-	10	1400	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	381					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TTAAGGTACCGAACCAGGCGA	0.473000													4	114					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420654	27420654	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:27420654C>T	ENST00000211936.6	-	6	968	c.684G>A	c.(682-684)ggG>ggA	p.G228G	ZNF184_ENST00000377419.1_Silent_p.G228G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TAAAGGCTTTCCCACATTCAT	0.383000													7	150					0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2190934	2190934	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:2190934G>A	ENST00000381178.1	-	3	369	c.351C>T	c.(349-351)ttC>ttT	p.F117F	TH_ENST00000352909.3_Silent_p.F86F|TH_ENST00000381175.1_Silent_p.F113F|TH_ENST00000333684.5_Silent_p.F90F	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	117					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCCTCGGGGAGAAGAGCAGGT	0.667000													9	30					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3828306	3828306	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:3828306G>A	ENST00000324333.10	-	10	2487	c.2294C>T	c.(2293-2295)cCt>cTt	p.P765L	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.P920L	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	765					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GAGCTGGCTAGGACAGCGGTC	0.537000													6	24					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628027	46628027	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:46628027G>T	ENST00000470495.1	-	2	2412	c.965C>A	c.(964-966)cCt>cAt	p.P322H	HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.P249H|HOXB3_ENST00000476342.1_Missense_Mutation_p.P322H|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.P188H|HOXB3_ENST00000498678.1_Missense_Mutation_p.P322H|HOXB3_ENST00000311626.4_Missense_Mutation_p.P322H|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.P190H|HOXB3_ENST00000485909.2_Missense_Mutation_p.P190H|HOXB3_ENST00000472863.1_Missense_Mutation_p.P249H|HOXB-AS1_ENST00000435312.1_RNA			P14651	HXB3_HUMAN	homeobox B3	322					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CGGGGTCGGAGGGTACTTCTG	0.701000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	127					1.85244e-09	1.90701e-09	1	1	0
CYP4Z1	199974	broad.mit.edu	37	1	47582349	47582349	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:47582349G>A	ENST00000334194.3	+	11	1297	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	432						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ATTCTCCAGGGAAAATTCTGA	0.408000													9	26					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896865	153896865	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:153896865A>T	ENST00000511601.1	+	12	2610	c.2422A>T	c.(2422-2424)Atg>Ttg	p.M808L	FHDC1_ENST00000260008.3_Missense_Mutation_p.M808L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	808					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGATGGCTCCATGTCCTCTGG	0.647000													19	118					0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56528177	56528177	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:56528177C>T	ENST00000394048.5	+	15	1861	c.1597C>T	c.(1597-1599)Cta>Tta	p.L533L	ESYT1_ENST00000267113.4_Silent_p.L543L|ESYT1_ENST00000541590.1_Silent_p.L543L	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	533	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCGGTTCTTCCTACAAGACCC	0.507000													23	198					0	0	1	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272327	43272327	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:43272327G>A	ENST00000263246.3	-	10	1365	c.1164C>T	c.(1162-1164)taC>taT	p.Y388Y	PACSIN2_ENST00000407585.1_Silent_p.Y347Y|PACSIN2_ENST00000337959.4_Silent_p.Y347Y|PACSIN2_ENST00000403744.3_Silent_p.Y388Y|PACSIN2_ENST00000402229.1_Silent_p.Y388Y|PACSIN2_ENST00000496919.1_5'UTR	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	388					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GGGTCTTCTCGTAGCTGCTCA	0.632000													25	74					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118245671	118245671	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:118245671C>T	ENST00000252108.3	+	9	1308	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	UBE4A_ENST00000431736.2_Missense_Mutation_p.P400S	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	393					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCAGCTCTCTCCAGAAACCAA	0.443000													13	50					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921754	24921754	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:24921754G>A	ENST00000329468.2	+	1	1214	c.740G>A	c.(739-741)gGa>gAa	p.G247E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		AGCCAGGCCGGATGTGCCCGG	0.622000													23	42					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220355525	220355525	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:220355525G>A	ENST00000312358.7	+	38	9364	c.9232G>A	c.(9232-9234)Ggc>Agc	p.G3078S	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3078	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTACCTCCACGGCCACCACGT	0.577000													10	80					0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73274334	73274334	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:73274334G>T	ENST00000402418.3	-	4	1451	c.542C>A	c.(541-543)aCc>aAc	p.T181N	SLC25A19_ENST00000320362.3_Missense_Mutation_p.T181N|SLC25A19_ENST00000580994.1_Missense_Mutation_p.T181N|SLC25A19_ENST00000375261.4_Missense_Mutation_p.T124N|SLC25A19_ENST00000416858.2_Missense_Mutation_p.T181N|SLC25A19_ENST00000442286.2_Missense_Mutation_p.T181N			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	181						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GGCGATCAAGGTGGGAGCCAA	0.557000													27	226					1.55811e-20	1.62927e-20	1	1	0
TBC1D19	55296	broad.mit.edu	37	4	26756568	26756568	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:26756568G>A	ENST00000264866.4	+	21	1858	c.1580G>A	c.(1579-1581)tGa>tAa	p.*527*	TBC1D19_ENST00000511789.1_Silent_p.*462*	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	0						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				ACTGTCACCTGATCTTCTTCA	0.323000													8	53					0	0	1	0	0
OR4F17	81099	broad.mit.edu	37	19	110764	110764	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:110764G>A	ENST00000585993.1	+	2	225	c.86G>A	c.(85-87)gGa>gAa	p.G29E	OR4F17_ENST00000318050.3_Missense_Mutation_p.G29E			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTATTCTATGGAGGAATCGTG	0.413000													52	157					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55943354	55943354	+	Splice_Site	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:55943354C>A	ENST00000373965.2	-	14	1856		c.e14-1		PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15						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)				ATGCTGTTATCTTTGGGAGGA	0.368000										HNSCC(58;0.16)			14	62					3.41278e-10	3.52973e-10	1	1	0
POU2F3	25833	broad.mit.edu	37	11	120169026	120169026	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:120169026C>T	ENST00000260264.4	+	4	225	c.191C>T	c.(190-192)cCa>cTa	p.P64L	POU2F3_ENST00000543440.2_Missense_Mutation_p.P62L	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	62					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TCCCATCGGCCATGCCACCTG	0.547000													64	139					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147131324	147131324	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:147131324G>A	ENST00000282928.4	+	3	2059	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	444					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CAATTTTAACGAATGGTACGT	0.473000													7	73					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206649565	206649565	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:206649565C>T	ENST00000367120.3	+	6	773	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.R49C	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	134	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CATTGTGCATCGCGACATCAA	0.627000													6	54					0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726741	25726741	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:25726741C>T	ENST00000297012.3	-	1	49	c.15G>A	c.(13-15)ggG>ggA	p.G5G		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	5					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTCCCTGCTTCCCTCGTCCAG	0.522000													24	111					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120474738	120474738	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:120474738G>C	ENST00000355622.6	+	3	433	c.332G>C	c.(331-333)gGa>gCa	p.G111A	TLR4_ENST00000394487.4_Missense_Mutation_p.G71A|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	111					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATATTGACAGGAAACCCCATC	0.433000													8	35					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113890705	113890705	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:113890705G>A	ENST00000383673.2	-	2	565	c.135C>T	c.(133-135)ttC>ttT	p.F45F	DRD3_ENST00000295881.7_Silent_p.F45F|DRD3_ENST00000460779.1_Silent_p.F45F|DRD3_ENST00000467632.1_Silent_p.F45F	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	45					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGCCATTGCCGAAGACGATGG	0.612000													15	63					0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143365802	143365802	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:143365802G>A	ENST00000519651.1	-	9	781	c.678C>T	c.(676-678)tcC>tcT	p.S226S	TSNARE1_ENST00000524325.1_Silent_p.S444S|TSNARE1_ENST00000520166.1_Silent_p.S445S|TSNARE1_ENST00000307180.3_Silent_p.S445S			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	445					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTGACACCATGGAGGCCAAGT	0.617000													10	62					0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	28017827	28017827	+	Silent	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:28017827T>C	ENST00000256398.8	+	13	1716	c.1339T>C	c.(1339-1341)Ttg>Ctg	p.L447L	ELP3_ENST00000542181.1_Silent_p.L318L|ELP3_ENST00000380353.4_Silent_p.L355L|ELP3_ENST00000537665.1_Silent_p.L328L|ELP3_ENST00000524103.1_Silent_p.L375L|ELP3_ENST00000521015.1_Silent_p.L433L	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	447	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TCAAGACATTTTGATTGGCCT	0.433000													7	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485339	179485339	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:179485339C>T	ENST00000589042.1	-	248	46133	c.45909G>A	c.(45907-45909)agG>agA	p.R15303R	TTN_ENST00000460472.2_Silent_p.R6238R|TTN_ENST00000342992.6_Silent_p.R12735R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.R6363R|TTN_ENST00000342175.6_Silent_p.R6430R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.R13662R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13662	Fibronectin type-III 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCAACAATCCTAAGGTCTT	0.318000													6	36					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130412495	130412495	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:130412495G>A	ENST00000370904.1	-	18	2864	c.1954C>T	c.(1954-1956)Cat>Tat	p.H652Y	IGSF1_ENST00000370903.3_Missense_Mutation_p.H666Y|IGSF1_ENST00000361420.3_Missense_Mutation_p.H661Y|IGSF1_ENST00000370910.1_Missense_Mutation_p.H652Y			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	661	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCCATGAATGGCAGTGGTAG	0.637000													31	24					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97124035	97124035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:97124035C>T	ENST00000389672.5	+	6	1686	c.1648C>T	c.(1648-1650)Caa>Taa	p.Q550*		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	455						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTGGGCATCCCAAAATAGCAT	0.413000													4	11					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57868244	57868244	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:57868244G>A	ENST00000393797.2	-	18	2207	c.2015C>T	c.(2014-2016)tCc>tTc	p.S672F	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.S582F|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.S661F|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.S601F|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.S582F|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.S398F			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	601	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCTCCCATCGGAGGTGACCGC	0.507000													5	64					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987197	61987197	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:61987197C>T	ENST00000409186.1	-	5	3140	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	PCDH20_ENST00000409204.4_Silent_p.V345V			Q8N6Y1	PCD20_HUMAN	protocadherin 20	318	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGTCTTTATCCACAGCCTGGA	0.428000													8	75					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134898705	134898705	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:134898705C>T	ENST00000398015.3	+	10	2133	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	EPHB1_ENST00000493838.1_Missense_Mutation_p.S149F	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	588						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAACAAGGCTCCCCAGGGATG	0.493000													54	169					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926354	70926354	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:70926354C>T	ENST00000603540.1	+	2	2396	c.2138C>T	c.(2137-2139)cCc>cTc	p.P713L	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.P713L	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	713					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTTCTGGTCCCAAAGAAACT	0.373000													13	51					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35554884	35554884	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:35554884G>A	ENST00000542713.1	-	7	833	c.676C>T	c.(676-678)Cct>Tct	p.P226S	FKBP5_ENST00000540787.1_Missense_Mutation_p.S77F|FKBP5_ENST00000357266.4_Missense_Mutation_p.S256F|FKBP5_ENST00000536438.1_Missense_Mutation_p.S256F|FKBP5_ENST00000539068.1_Missense_Mutation_p.S256F	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	0	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CATCTCCCAGGATTCTTTGGC	0.428000													34	153					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524501	112524501	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:112524501G>A	ENST00000369697.1	-	1	917	c.848C>T	c.(847-849)tCc>tTc	p.S283F	KCND3_ENST00000302127.4_Missense_Mutation_p.S283F|KCND3_ENST00000315987.2_Missense_Mutation_p.S283F			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	283						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GAAGGCGCCGGACACGTCCTC	0.602000													49	47					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45454090	45454090	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:45454090G>A	ENST00000321429.4	+	31	4418	c.4011G>A	c.(4009-4011)cgG>cgA	p.R1337R	DUOX1_ENST00000389037.3_Silent_p.R1337R|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Silent_p.R983R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1337	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCACATCCGGGCAGCAGGGC	0.632000													6	40					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39650383	39650383	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr14:39650383C>T	ENST00000216832.4	+	9	1537	c.1470C>T	c.(1468-1470)tcC>tcT	p.S490S	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	490	Gln-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		aatcccagtcccaaccAGTAC	0.517000													9	44					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84506853	84506853	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:84506853G>A	ENST00000286744.5	+	7	837	c.613G>A	c.(613-615)Gat>Aat	p.D205N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D205N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	205						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)			AGTGGGCTGCGATCGGCAACT	0.562000													15	43					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880953	200880953	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:200880953C>T	ENST00000367342.4	+	9	1787	c.1587C>T	c.(1585-1587)ccC>ccT	p.P529P	C1orf106_ENST00000413687.2_Silent_p.P444P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	529										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGAGAGCCCCCTGCCGCCTG	0.726000													4	32					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175306679	175306679	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:175306679G>A	ENST00000367674.1	-	19	4227	c.3519C>T	c.(3517-3519)gaC>gaT	p.D1173D	TNR_ENST00000263525.2_Silent_p.D1173D	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1173	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCCGCCCCCGTCGGTGGTCA	0.502000													23	63					0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117217066	117217066	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:117217066C>T	ENST00000257575.4	+	7	1028	c.795C>T	c.(793-795)atC>atT	p.I265I	RNFT2_ENST00000392549.2_Silent_p.I265I|RNFT2_ENST00000407967.3_Silent_p.I265I|RNFT2_ENST00000319176.7_Intron			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	265						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TTGTGGGGATCGCAGACTTTG	0.542000													65	131					0	0	1	0	0
COMMD4	54939	broad.mit.edu	37	15	75632213	75632213	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:75632213C>T	ENST00000267935.8	+	7	752	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	COMMD4_ENST00000338995.6_Intron|COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000562789.1_Intron|COMMD4_ENST00000564815.1_Silent_p.L163L	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	185	COMM.					cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CCAGGTCCTCCTGGCAGGTGA	0.642000													26	44					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030861	10030861	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:10030861G>A	ENST00000378380.3	+	6	1972		c.e6+1		SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_Splice_Site|ANKEF1_ENST00000378392.1_Splice_Site	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		TTGAAAAAGGGTACGCGTCTC	0.398000													10	32					0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	56833374	56833374	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:56833374C>T	ENST00000308249.2	+	1	145	c.16C>T	c.(16-18)Cct>Tct	p.P6S		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	6					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CGGCTGCATCCCTGAGGAGAA	0.667000													45	35					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43013087	43013087	+	Silent	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:43013087C>A	ENST00000535468.1	-	15	3254	c.3168G>T	c.(3166-3168)acG>acT	p.T1056T	CUL7_ENST00000265348.3_Silent_p.T972T	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	972					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTGGCCAGAACGTGGGCTTGG	0.592000													10	107					9.70103e-10	1.00179e-09	1	1	0
PLCB2	5330	broad.mit.edu	37	15	40588498	40588498	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:40588498G>A	ENST00000260402.3	-	16	1944	c.1696_splice	c.e16+1	p.A565_splice	PLCB2_ENST00000557821.1_Splice_Site_p.A561_splice|PLCB2_ENST00000456256.2_Splice_Site_p.A565_splice	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	565	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTAACTTACGGGCAGAGAACT	0.537000													5	14					0	0	1	0	0
RIMS3	9783	broad.mit.edu	37	1	41101626	41101626	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:41101626G>A	ENST00000372684.3	-	4	790	c.321C>T	c.(319-321)tcC>tcT	p.S107S	RIMS3_ENST00000372683.1_Silent_p.S107S	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	107					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			TCCCATCGGTGGACTCCCGGC	0.687000													10	62					0	0	1	0	0
GUCA1B	2979	broad.mit.edu	37	6	42162358	42162358	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:42162358C>T	ENST00000230361.3	-	1	296	c.201G>A	c.(199-201)aaG>aaA	p.K67K		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	67	EF-hand 2.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	p.K67N(1)		large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			TTACCCCATTCTTGTCGAAGG	0.572000													17	49					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187583	140187583	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:140187583G>A	ENST00000530339.1	+	1	811	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E271K|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E271K|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATTTAGACGAAGGATTGAA	0.343000													11	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179643732	179643732	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:179643732T>G	ENST00000589042.1	-	24	4301	c.4077A>C	c.(4075-4077)gaA>gaC	p.E1359D	TTN_ENST00000460472.2_Missense_Mutation_p.E1313D|TTN_ENST00000342992.6_Missense_Mutation_p.E1359D|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E1359D|TTN_ENST00000359218.5_Missense_Mutation_p.E1313D|TTN_ENST00000342175.6_Missense_Mutation_p.E1313D|TTN_ENST00000591111.1_Missense_Mutation_p.E1359D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1359	Ig-like 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAGATTCCTTCATCTTCTG	0.438000													5	43					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075656	83075656	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:83075656G>A	ENST00000369750.3	+	2	1595	c.978G>A	c.(976-978)ccG>ccA	p.P326P	TPBG_ENST00000535040.1_Silent_p.P326P|TPBG_ENST00000543496.1_Silent_p.P326P			Q13641	TPBG_HUMAN	trophoblast glycoprotein	326	LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GTGCATATCCGGAAAAAATGA	0.542000													23	54					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104999313	104999313	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:104999313C>T	ENST00000372582.1	+	10	2091	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	IL1RAPL2_ENST00000538500.1_Silent_p.I50I|IL1RAPL2_ENST00000344799.4_Silent_p.I445I|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	445	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACTCTTCATCCCAGAAAGAG	0.373000													18	48					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89391840	89391840	+	RNA	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:89391840A>G	ENST00000532352.1	+	0	456							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTAAATTGGAACGGGACATGA	0.333000													4	10					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570715	20570715	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:20570715C>T	ENST00000329697.6	-	3	400	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	ACSM2B_ENST00000567001.1_Missense_Mutation_p.E78K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E78K|ACSM2B_ENST00000565322.1_5'UTR|ACSM2B_ENST00000414188.2_Missense_Mutation_p.E78K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	78					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CACATTAATTCCTTCCCCTTC	0.557000													5	15					0	0	1	0	0
IPCEF1	26034	broad.mit.edu	37	6	154568616	154568616	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:154568616G>A	ENST00000265198.4	-	4	195	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	IPCEF1_ENST00000519344.1_5'UTR|IPCEF1_ENST00000367220.4_Missense_Mutation_p.P15S|IPCEF1_ENST00000422970.2_Missense_Mutation_p.P15S	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TGACGCAAGGGAACCTGCTGA	0.423000													26	43					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29611308	29611308	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:29611308C>T	ENST00000373779.3	+	14	2374	c.2245C>T	c.(2245-2247)Ctg>Ttg	p.L749L	PTPRU_ENST00000460170.2_Silent_p.L749L|PTPRU_ENST00000428026.2_Silent_p.L749L|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Silent_p.L749L|PTPRU_ENST00000356870.3_Silent_p.L749L|PTPRU_ENST00000323874.8_Silent_p.L749L	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	749					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGGGCTTATCCTGGGCATCTG	0.597000													13	66					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26444501	26444501	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:26444501C>T	ENST00000244519.2	+	4	645	c.402C>T	c.(400-402)taC>taT	p.Y134Y	BTN3A3_ENST00000339789.4_Silent_p.Y92Y|BTN3A3_ENST00000361232.3_Silent_p.Y92Y	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	134	Ig-like V-type 1.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GTGACTTCTACGAAAAAGCCC	0.502000													5	112					0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109046152	109046152	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:109046152G>A	ENST00000261401.3	-	8	1069	c.897C>T	c.(895-897)tcC>tcT	p.S299S	CORO1C_ENST00000541050.1_Silent_p.S299S|CORO1C_ENST00000421578.2_Silent_p.S194S|CORO1C_ENST00000420959.2_Silent_p.S352S|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000549772.1_Silent_p.S305S	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	299					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GGACGTACGGGGATTCATCCG	0.458000													37	63					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78321333	78321333	+	Silent	SNP	G	G	A	rs147557959		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:78321333G>A	ENST00000582970.1	+	29	9341	c.9198G>A	c.(9196-9198)ccG>ccA	p.P3066P	RNF213_ENST00000336301.6_Silent_p.P1139P|RNF213_ENST00000508628.2_Silent_p.P3115P	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACCAGCAGCCGGAGATTATTT	0.512000													64	36					0	0	1	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291963	5291963	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:5291963G>A	ENST00000357006.4	-	4	582	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	ZBTB14_ENST00000400143.3_Missense_Mutation_p.R82C	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		ATATCAGAACGAAGAAAATCT	0.373000													7	53					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516203	179516203	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:179516203T>G	ENST00000589042.1	-	207	39748	c.39524A>C	c.(39523-39525)aAg>aCg	p.K13175T	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K10741T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K11668T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11528	Ig-like 87.						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)			GGCTTCTGGCTTTTTGGGAAC	0.478000													18	61					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67321007	67321007	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:67321007C>T	ENST00000360461.5	+	17	5565	c.3030C>T	c.(3028-3030)tcC>tcT	p.S1010S	PLEKHG4_ENST00000379344.3_Silent_p.S1010S|PLEKHG4_ENST00000450733.1_Silent_p.S929S|PLEKHG4_ENST00000427155.2_Silent_p.S1010S	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1010	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGCAGGCCTCCAGCCTGGCTA	0.622000													10	42					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34021881	34021881	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:34021881C>T	ENST00000374372.1	-	4	1835	c.1332G>A	c.(1330-1332)acG>acA	p.T444T	GDF5OS_ENST00000374375.1_5'UTR|GDF5_ENST00000374369.3_Silent_p.T444T			P43026	GDF5_HUMAN	growth differentiation factor 5	444					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CTGCATGATTCGTGGGCTCCA	0.612000													24	36					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81077755	81077755	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:81077755A>G	ENST00000566488.1	+	3	2147	c.1184A>G	c.(1183-1185)gAg>gGg	p.E395G	ATMIN_ENST00000564241.1_Missense_Mutation_p.E395G|ATMIN_ENST00000299575.4_Missense_Mutation_p.E551G|ATMIN_ENST00000539819.1_3'UTR			O43313	ATMIN_HUMAN	ATM interactor	551	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CCTCAGAATGAGCCTAAGACT	0.338000													7	27					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275940	150275940	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:150275940A>C	ENST00000446148.2	-	7	1336	c.909T>G	c.(907-909)caT>caG	p.H303Q	ZNF300_ENST00000418587.2_Missense_Mutation_p.H251Q|ZNF300_ENST00000394226.2_Missense_Mutation_p.H287Q|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.H287Q	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTCTTTGATGTACAATGA	0.368000													7	69					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113557192	113557192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:113557192C>T	ENST00000546530.1	-	7	770	c.485G>A	c.(484-486)tGg>tAg	p.W162*	RASAL1_ENST00000446861.3_Nonsense_Mutation_p.W162*|RASAL1_ENST00000261729.5_Nonsense_Mutation_p.W162*|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Nonsense_Mutation_p.W162*	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	162	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTGGCTGCCCCAAAACACACG	0.587000													4	8					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20651277	20651277	+	RNA	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:20651277C>T	ENST00000428453.1	-	0	2360																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCATATCTTCCTCAACGCTGT	0.478000													4	138					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804745	27804745	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:27804745C>T	ENST00000408964.2	+	1	5357	c.5306C>T	c.(5305-5307)cCc>cTc	p.P1769L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1769	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CATTGCAGTCCCTCTGAGAGA	0.527000													49	190					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559909	228559909	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:228559909C>T	ENST00000570156.2	+	105	24375	c.24301C>T	c.(24301-24303)Ccc>Tcc	p.P8101S	OBSCN_ENST00000422127.1_Missense_Mutation_p.P7144S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P4778S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7144					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	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor 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)				AGAGCCTGGCCCCTCCCTGGA	0.677000													4	7					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5155058	5155058	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:5155058C>T	ENST00000252321.3	+	1	1974	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	582						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GGCAGCTGCCCCCTAGAGAAG	0.602000													5	44					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45169860	45169860	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:45169860G>C	ENST00000429094.2	-	8	1340	c.836C>G	c.(835-837)aCc>aGc	p.T279S	NELL2_ENST00000549027.1_Missense_Mutation_p.T278S|NELL2_ENST00000437801.2_Missense_Mutation_p.T329S|NELL2_ENST00000395487.2_Missense_Mutation_p.T278S|NELL2_ENST00000551601.1_Missense_Mutation_p.T278S|NELL2_ENST00000452445.2_Missense_Mutation_p.T279S|NELL2_ENST00000333837.4_Missense_Mutation_p.T302S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	279	VWFC 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TCGGTAGGTGGTTCCCTTCAT	0.468000													5	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179552841	179552841	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:179552841C>T	ENST00000589042.1	-	127	32532	c.32308G>A	c.(32308-32310)Gaa>Aaa	p.E10770K	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9526K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10453K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10453	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTACCTTCATATTCTGTA	0.393000													13	70					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490069	65490069	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:65490069G>A	ENST00000261883.4	-	9	2721	c.2555C>T	c.(2554-2556)cCc>cTc	p.P852L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	852					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTTGAGATAGGGCTGAGGGAC	0.527000													19	92					0	0	1	0	0
NMI	9111	broad.mit.edu	37	2	152128175	152128175	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:152128175A>C	ENST00000243346.5	-	7	1176	c.706T>G	c.(706-708)Tct>Gct	p.S236A		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	236					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		GTGTATGGAGAAACAGTAACT	0.343000													18	73					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61823256	61823256	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:61823256C>T	ENST00000577390.1	-	8	2362	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	CDH8_ENST00000577730.1_Missense_Mutation_p.E470K|CDH8_ENST00000584337.1_Missense_Mutation_p.E470K|CDH8_ENST00000299345.6_Missense_Mutation_p.E470K	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	470	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTACTAATTTCAGTAGCAATG	0.393000													25	42					0	0	1	0	0
PRDX1	5052	broad.mit.edu	37	1	45980606	45980606	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:45980606G>A	ENST00000262746.1	-	4	661	c.322C>T	c.(322-324)Ccg>Tcg	p.P108S	PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000319248.8_Missense_Mutation_p.P108S	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	108	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GTGCGCTTCGGGTCTGATACC	0.458000													23	153					0	0	1	0	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139092010	139092010	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:139092010G>T	ENST00000354926.4	+	6	955	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.D200Y|LUC7L2_ENST00000541515.3_Missense_Mutation_p.D267Y|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.D198Y	NM_016019.3	NP_057103.2																					AGGACTTCATGATAATGACAG	0.393000													12	62					6.40141e-05	6.49929e-05	1	1	0
PKD1L2	114780	broad.mit.edu	37	16	81193307	81193307	+	RNA	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:81193307C>A	ENST00000525539.1	-	0	3815				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGATGCCAACCGTGAGGTCCC	0.582000													4	6					0.00024832	0.000251732	1	1	0
OR12D2	26529	broad.mit.edu	37	6	29365202	29365202	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:29365202C>T	ENST00000383555.2	+	1	787	c.726C>T	c.(724-726)tcC>tcT	p.S242S	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTTGTGCCTCCCACTTCATGG	0.433000													28	128					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234202	18234202	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:18234202T>A	ENST00000229002.2	-	6	747	c.541A>T	c.(541-543)Aag>Tag	p.K181*	RERGL_ENST00000538724.1_Nonsense_Mutation_p.K180*	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	181	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GGACGTCTCTTTTCTTTGAGT	0.388000													11	40					0	0	1	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948628	2948628	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:2948628G>A	ENST00000380520.1	-	6	3029	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	SERPINB6_ENST00000380529.1_Silent_p.F345F|SERPINB6_ENST00000380539.1_Silent_p.F345F|SERPINB6_ENST00000380546.3_Silent_p.F345F|SERPINB6_ENST00000335686.5_Silent_p.F345F|SERPINB6_ENST00000380524.1_Silent_p.F345F			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	345					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	AGCGGGGGACGAATCTGGCAC	0.582000													15	35					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715825	13715825	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:13715825C>T	ENST00000279593.3	-	13	4556	c.4347G>A	c.(4345-4347)ggG>ggA	p.G1449G		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1449					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|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)	TGGACTGGTTCCCTATACAGA	0.547000													38	103					0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975146	31975146	+	RNA	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:31975146G>A	ENST00000342991.6	+	0	1269					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTCCTGGAAGGGCACTTGCAC	0.602000													35	269					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38320146	38320146	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:38320146G>C	ENST00000264645.7	+	7	1424	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	400	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						TAGGCCCATTGAGAAGAAATC	0.562000													4	180					0	0	1	0	0
GGT6	124975	broad.mit.edu	37	17	4461724	4461724	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr17:4461724C>T	ENST00000301395.3	-	3	1031	c.972G>A	c.(970-972)gtG>gtA	p.V324V	GGT6_ENST00000381550.3_Silent_p.V362V|GGT6_ENST00000574154.1_Silent_p.V356V|GGT6_ENST00000573591.1_Silent_p.V208V	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	356					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CGCTGCTGTCCACGGCGGCCA	0.667000													16	26					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526002	176526002	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:176526002G>A	ENST00000367662.3	+	2	1708	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E182K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	182					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E182K(2)|p.E182*(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACCCTGAACGAACCCAAACC	0.587000													37	123					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53191433	53191433	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:53191433C>T	ENST00000566029.1	+	2	1641	c.1432C>T	c.(1432-1434)Cac>Tac	p.H478Y	CHD9_ENST00000447540.1_Missense_Mutation_p.H478Y|CHD9_ENST00000564845.1_Missense_Mutation_p.H478Y|CHD9_ENST00000398510.3_Missense_Mutation_p.H478Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	478					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGACAGAAATCACCTATGTTT	0.413000													10	35					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201195154	201195154	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:201195154C>T	ENST00000335211.4	+	22	10819	c.10689C>T	c.(10687-10689)ccC>ccT	p.P3563P	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCATCCTCCCCGGCCACGAAT	0.667000													13	62					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678470	100678470	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:100678470C>T	ENST00000306151.4	+	3	3837	c.3773C>T	c.(3772-3774)tCc>tTc	p.S1258F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1258	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)					GAAACCAGTTCCTCTCCTACA	0.522000													71	429					0	0	1	0	0
MOSPD2	158747	broad.mit.edu	37	X	14937839	14937839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:14937839C>T	ENST00000380492.3	+	15	1553	c.1465C>T	c.(1465-1467)Cag>Tag	p.Q489*	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Intron	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	489						integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AGACCAAGTTCAGCGTTGTAT	0.393000													92	78					0	0	1	0	0
CERS2	29956	broad.mit.edu	37	1	150940569	150940569	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:150940569G>A	ENST00000271688.6	-	4	786	c.400C>T	c.(400-402)Cga>Tga	p.R134*	CERS2_ENST00000368954.5_Nonsense_Mutation_p.R134*|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Nonsense_Mutation_p.R125*	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	134	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CTGGCTTCTCGGAACTTCTTG	0.622000													20	72					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185879415	185879415	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:185879415G>A	ENST00000265022.3	-	24	2793	c.2254C>T	c.(2254-2256)Ccc>Tcc	p.P752S	DGKG_ENST00000344484.4_Missense_Mutation_p.P727S|DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000544847.1_Missense_Mutation_p.P693S|DGKG_ENST00000382164.4_Missense_Mutation_p.P713S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	752					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGCATCCAGGGTTCTCCATCC	0.463000													14	48					0	0	1	0	0
GSTO1	9446	broad.mit.edu	37	10	106015023	106015023	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:106015023G>A	ENST00000539281.1	+	2	409	c.53G>A	c.(52-54)gGa>gAa	p.G18E	GSTO1_ENST00000369713.5_Missense_Mutation_p.G46E|GSTO1_ENST00000369710.4_Missense_Mutation_p.G46E|GSTO1_ENST00000493946.1_3'UTR	NM_001191003.1	NP_001177932.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	46					xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	AAGGCCAAGGGAATCAGGTGG	0.711000													9	45					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24387573	24387573	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:24387573C>T	ENST00000330966.7	-	35	4143		c.e35-1		RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Splice_Site|MYOM3_ENST00000374434.3_Splice_Site			Q5VTT5	MYOM3_HUMAN	myomesin 3											NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGCCAAGGTTCTGAAAAACAG	0.488000													25	75					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43606732	43606732	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:43606732C>T	ENST00000355710.3	+	7	1573	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A	RET_ENST00000340058.5_Silent_p.A447A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	447					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCTCTGGTGCCAACTGCAGCA	0.597000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				26	110					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308755	248308755	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:248308755C>T	ENST00000366476.1	+	1	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CACAAATTTTCTTCTATGTAT	0.458000													143	298					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119318	133119318	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:133119318G>A	ENST00000302334.2	+	1	480	c.391G>A	c.(391-393)Gag>Aag	p.E131K		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	131	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGTCAGTCAGGAGCTGGAAAC	0.607000													6	81					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940370	144940370	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:144940370G>A	ENST00000525985.1	-	2	7123	c.7052C>T	c.(7051-7053)cCc>cTc	p.P2351L				P58107	EPIPL_HUMAN	epiplakin 1	2351						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)			GCTGTGCACGGGGTCGATGAC	0.687000													8	714					0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428793	56428793	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:56428793C>T	ENST00000262032.5	+	12	1803	c.1436C>T	c.(1435-1437)cCc>cTc	p.P479L	IKZF4_ENST00000547791.1_Missense_Mutation_p.P434L|IKZF4_ENST00000547167.1_Missense_Mutation_p.P479L|IKZF4_ENST00000431367.2_Missense_Mutation_p.P377L|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	479					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGTCCCCCACCCCAGCCACCT	0.662000													26	19					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36297576	36297576	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:36297576C>T	ENST00000301175.3	-	7	1080		c.e7+1			NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2						glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACACTGCACACCTTTAGACAG	0.652000													11	45					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94827549	94827549	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:94827549C>T	ENST00000453321.3	+	27	2839	c.2781C>T	c.(2779-2781)ttC>ttT	p.F927F	TMEM67_ENST00000409623.3_Silent_p.F846F	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	927					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GTTATTCTTTCAGCAGTGTCC	0.294000													3	3					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331720	28331720	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:28331720C>T	ENST00000341901.4	+	4	1542	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	251	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CCGGCAACTTCCCGTGGGAGG	0.736000													12	38					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72020956	72020956	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:72020956G>A	ENST00000355327.3	+	9	1560	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	THSD4_ENST00000261862.6_Missense_Mutation_p.E476K|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.E116K			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	476						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGAAAATACGAGGGCGGAGG	0.507000													27	125					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124358207	124358207	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:124358207C>T	ENST00000409039.3	+	45	7559	c.7534C>T	c.(7534-7536)Ccc>Tcc	p.P2512S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2512	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTACGGCCCACCCATGGGAAA	0.483000													5	15					0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63353404	63353404	+	Nonsense_Mutation	SNP	C	C	T	rs1131001		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:63353404C>T	ENST00000358278.3	+	6	716	c.571C>T	c.(571-573)Cga>Tga	p.R191*	TPM1_ENST00000334895.5_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000317516.7_Nonsense_Mutation_p.R155*|TPM1_ENST00000559397.1_Nonsense_Mutation_p.R191*|TPM1_ENST00000288398.6_Nonsense_Mutation_p.R191*|TPM1_ENST00000559281.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000404484.4_Nonsense_Mutation_p.R155*|TPM1_ENST00000403994.3_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000560959.1_Nonsense_Mutation_p.R155*	NM_001018006.1	NP_001018006.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	191					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CAGCCAAGTCCGACAGCTGGA	0.433000													27	35					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205035721	205035721	+	Missense_Mutation	SNP	C	C	T	rs2305276		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:205035721C>T	ENST00000331830.4	+	15	2253	c.1969C>T	c.(1969-1971)Cgg>Tgg	p.R657W		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	657	Fibronectin type-III 1.		R -> W (in dbSNP:rs2305276).		axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GAAGCAGGTTCGGACCAGTAA	0.602000													7	30					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61823266	61823266	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:61823266G>A	ENST00000577390.1	-	8	2352	c.1398C>T	c.(1396-1398)atC>atT	p.I466I	CDH8_ENST00000577730.1_Silent_p.I466I|CDH8_ENST00000584337.1_Silent_p.I466I|CDH8_ENST00000299345.6_Silent_p.I466I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	466	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAGTAGCAATGATTGTTATGT	0.403000													10	58					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114453573	114453573	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:114453573G>A	ENST00000375478.3	-	3	447	c.267C>T	c.(265-267)acC>acT	p.T89T	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TGTTCACGTGGGTGAAAGGTC	0.502000													29	89					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31534276	31534276	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:31534276C>T	ENST00000215885.3	-	3	1020	c.768G>A	c.(766-768)tgG>tgA	p.W256*		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	256	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCCACCAGTACCACGCCACAC	0.617000													10	30					0	0	1	0	0
IPCEF1	26034	broad.mit.edu	37	6	154568615	154568615	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr6:154568615G>A	ENST00000265198.4	-	4	196	c.41C>T	c.(40-42)cCc>cTc	p.P14L	IPCEF1_ENST00000519344.1_5'UTR|IPCEF1_ENST00000367220.4_Missense_Mutation_p.P15L|IPCEF1_ENST00000422970.2_Missense_Mutation_p.P15L	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						CTGACGCAAGGGAACCTGCTG	0.428000													26	43					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	597758	597758	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:597758C>G	ENST00000219611.2	+	4	1283	c.920C>G	c.(919-921)aCc>aGc	p.T307S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GAGGGTGGCACCAGCCGCGTA	0.706000													6	20					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65495735	65495735	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:65495735C>T	ENST00000261883.4	-	7	1159	c.993G>A	c.(991-993)aaG>aaA	p.K331K		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	331	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCCCTGTGGCCTTACAGCACA	0.507000													8	73					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42537686	42537686	+	RNA	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:42537686C>T	ENST00000435101.1	-	0	57				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						TCCCCTTGGCCTGAGCAGGGC	0.602000													5	38					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158063187	158063187	+	Silent	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:158063187C>A	ENST00000368172.1	+	8	984	c.972C>A	c.(970-972)atC>atA	p.I324I	KIRREL_ENST00000392272.2_Silent_p.I407I|KIRREL_ENST00000359209.6_Silent_p.I510I|KIRREL_ENST00000416935.2_Silent_p.I410I|KIRREL_ENST00000360089.4_Silent_p.I346I|KIRREL_ENST00000368173.3_Silent_p.I526I			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	510	Ig-like C2-type 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TCCTGCTCATCTTCTTCTTCA	0.597000													4	133					0.014758	0.014825	1	1	0
PCED1B	91523	broad.mit.edu	37	12	47629042	47629042	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:47629042C>T	ENST00000546455.1	+	4	927	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	PCED1B_ENST00000432328.1_Nonsense_Mutation_p.Q66*					PC-esterase domain containing 1B																		GGACGGAGGCCAGCGGGGCCA	0.607000													23	57					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78734972	78734972	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:78734972C>T	ENST00000334082.6	-	5	1830	c.387_splice	c.e5-1	p.E130_splice	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Splice_Site_p.E130_splice|HOMER1_ENST00000282260.6_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	130					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CCTGCGGATTCCTTTAAAAAA	0.408000													11	46					0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014634	114014634	+	Missense_Mutation	SNP	G	G	A	rs146935299	by1000genomes	TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:114014634G>A	ENST00000481065.1	+	3	3120	c.505G>A	c.(505-507)Gat>Aat	p.D169N	TIGIT_ENST00000486257.1_Missense_Mutation_p.D102N|TIGIT_ENST00000383671.3_Missense_Mutation_p.D102N			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	102					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	p.D102N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GACCGTGAACGATACAGGGGA	0.567000													24	59					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66280088	66280088	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:66280088G>A	ENST00000273854.3	-	7	2201	c.1601C>T	c.(1600-1602)tCa>tTa	p.S534L	EPHA5_ENST00000432638.2_Missense_Mutation_p.S370L|EPHA5_ENST00000511294.1_Missense_Mutation_p.S534L|EPHA5_ENST00000354839.4_Missense_Mutation_p.S534L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	534	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GACATAAACTGAAGCTGGTTT	0.423000										TSP Lung(17;0.13)			32	41					0	0	1	0	0
CERS2	29956	broad.mit.edu	37	1	150940570	150940570	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:150940570G>A	ENST00000271688.6	-	4	785	c.399C>T	c.(397-399)ttC>ttT	p.F133F	CERS2_ENST00000368954.5_Silent_p.F133F|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Silent_p.F124F	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	133	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGGCTTCTCGGAACTTCTTGA	0.622000													19	75					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703008	27703008	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:27703008C>T	ENST00000438700.3	-	1	289	c.172G>A	c.(172-174)Gga>Aga	p.G58R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	58					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCCAGGGGTCCTGAGGGTTCG	0.701000													18	24					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12883636	12883636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:12883636G>A	ENST00000264827.5	-	5	516	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Nonsense_Mutation_p.Q116*	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	116	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AGCACCAGCTGAAGCAGCTTG	0.597000													8	69					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113403550	113403550	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:113403550G>A	ENST00000228928.7	+	12	2584	c.2403_splice	c.e12-1	p.G802_splice	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	802	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCTCTCCAGGGTGGCTCTTCA	0.567000													5	6					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25478124	25478124	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:25478124G>C	ENST00000381884.4	-	8	2950	c.2765C>G	c.(2764-2766)gCt>gGt	p.A922G	CENPJ_ENST00000545981.1_Missense_Mutation_p.A922G	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	922					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TGCGTTCTCAGCTTTAAACTT	0.373000													68	62					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210658513	210658513	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:210658513C>T	ENST00000439458.1	+	7	948	c.868C>T	c.(868-870)Cac>Tac	p.H290Y	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.H290Y	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	290						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TTCAGGCTGTCACCGAGGAAA	0.483000													30	44					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47101807	47101807	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:47101807G>A	ENST00000261292.4	+	5	918	c.640G>A	c.(640-642)Gat>Aat	p.D214N	LIPG_ENST00000577628.1_Missense_Mutation_p.D250N|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000580036.1_Missense_Mutation_p.D214N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	214					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GGACGATGCAGATTTTGTGGA	0.562000													17	51					0	0	1	0	0
GNAT3	346562	broad.mit.edu	37	7	80088100	80088100	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:80088100C>T	ENST00000398291.3	-	8	1045	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	318					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						GAATAAATTTCCTTATCTTCT	0.333000													3	15					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72993824	72993824	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:72993824G>A	ENST00000268489.5	-	2	893	c.221C>T	c.(220-222)cCc>cTc	p.P74L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	74					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTGCTGGCGGGCTCGGAGGG	0.711000													10	20					0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34552752	34552752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:34552752C>T	ENST00000378980.3	-	8	1162	c.869G>A	c.(868-870)tGg>tAg	p.W290*	CNTFR_ENST00000351266.4_Nonsense_Mutation_p.W290*	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	290	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		CCAGTCACTCCATGTCCCAAT	0.632000													29	76					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094357	46094357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:46094357C>T	ENST00000323040.4	-	2	1712	c.768G>A	c.(766-768)tgG>tgA	p.W256*	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	256						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		AGCCGCAGTCCCAGGGGCGGC	0.632000													4	93					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61236123	61236123	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:61236123G>A	ENST00000316752.6	-	3	415	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L	PUS10_ENST00000407787.1_Silent_p.L52L	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	52					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TCAGTTTCCAGAAATTTCTGT	0.348000													4	15					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751121	19751121	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:19751121G>A	ENST00000400113.3	-	4	1106	c.1002C>T	c.(1000-1002)acC>acT	p.T334T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	334					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGTCTTGATGGTGGCGATGG	0.527000													4	77					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198407	15198407	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:15198407C>T	ENST00000209540.2	+	1	617	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TCTCCCACTTCTTCTGTGACC	0.557000													10	69					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6212510	6212510	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:6212510A>T	ENST00000262450.3	-	6	931	c.832T>A	c.(832-834)Ttc>Atc	p.F278I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	278	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATCCCCCCGAAGCGGAACTTG	0.537000													4	35					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906710	129906710	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr10:129906710G>A	ENST00000368654.3	-	13	3769	c.3394C>T	c.(3394-3396)Cca>Tca	p.P1132S	MKI67_ENST00000368653.3_Missense_Mutation_p.P772S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1132	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTGGTGGTGGAGATTTGCAG	0.463000													130	172					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59895603	59895603	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:59895603C>T	ENST00000256858.6	+	8	1468	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	KIAA1468_ENST00000398130.2_Missense_Mutation_p.P407L			Q9P260	K1468_HUMAN	KIAA1468	407							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GTTCAGCCTCCTTTGGATCAG	0.423000													18	101					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20673152	20673152	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:20673152G>A	ENST00000307493.4	-	6	1023	c.956C>T	c.(955-957)tCt>tTt	p.S319F	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.S319F	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	319					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCGATATATAGATGATACCCC	0.368000													5	36					0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31815594	31815594	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:31815594C>T	ENST00000419022.1	-	10	1261	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	PAX6_ENST00000379107.2_Missense_Mutation_p.E265K|PAX6_ENST00000241001.8_Missense_Mutation_p.E251K|PAX6_ENST00000379132.3_Missense_Mutation_p.E251K|PAX6_ENST00000379129.2_Missense_Mutation_p.E265K|PAX6_ENST00000379111.2_Missense_Mutation_p.E251K|PAX6_ENST00000379115.4_Missense_Mutation_p.E265K|PAX6_ENST00000379123.5_Missense_Mutation_p.E251K	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	251					blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					ATTCTTGCTTCAGGTAGATCT	0.408000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				53	102					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65401774	65401774	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:65401774T>G	ENST00000355703.3	+	28	5187	c.4648T>G	c.(4648-4650)Ttt>Gtt	p.F1550V	PCNXL3_ENST00000531280.1_3'UTR	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1550						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCTGCCCTCCTTTTGTGCTGT	0.657000													5	10					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998544	72998544	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr18:72998544C>T	ENST00000322038.5	+	2	1631	c.1047C>T	c.(1045-1047)aaC>aaT	p.N349N	TSHZ1_ENST00000580243.1_Silent_p.N394N	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	394						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGCCCAATAACCGCTATGGCT	0.622000													21	39					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97167461	97167461	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:97167461T>G	ENST00000389672.5	+	7	1819	c.1781T>G	c.(1780-1782)gTc>gGc	p.V594G	EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR|EPHA6_ENST00000502694.1_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	499						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCCCCCAGTGTCATCATCACA	0.443000													11	90					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	159995214	159995214	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:159995214G>A	ENST00000326448.7	-	18	2411	c.1979C>T	c.(1978-1980)tCa>tTa	p.S660L	IFT80_ENST00000496589.1_Missense_Mutation_p.S523L|IFT80_ENST00000483465.1_Missense_Mutation_p.S523L|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S831L	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	660						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCCATTTTTGATTCTTTAGA	0.313000													10	43					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873216	55873216	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:55873216G>A	ENST00000313503.1	+	1	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCCACTTCAGGAAAGCAGAAA	0.368000										HNSCC(53;0.14)			15	30					0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36883943	36883943	+	Silent	SNP	T	T	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:36883943T>G	ENST00000392161.3	-	5	1541	c.1299A>C	c.(1297-1299)ctA>ctC	p.L433L	ZFP82_ENST00000392171.1_Silent_p.L433L	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGTGAAAGTAGTCTGAAGG	0.408000													19	75					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78184297	78184297	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:78184297A>C	ENST00000370793.1	-	17	2160	c.1814T>G	c.(1813-1815)gTa>gGa	p.V605G	USP33_ENST00000370794.3_Missense_Mutation_p.V574G|USP33_ENST00000357428.1_Missense_Mutation_p.V605G|USP33_ENST00000370792.3_Missense_Mutation_p.V597G	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	605					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AAAGTTTTGTACTTTACAAAA	0.274000													3	49					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45786783	45786783	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr21:45786783C>T	ENST00000397928.1	+	4	1015	c.570C>T	c.(568-570)ttC>ttT	p.F190F	TRPM2_ENST00000300482.5_Silent_p.F190F|TRPM2_ENST00000300481.9_Silent_p.F190F|TRPM2_ENST00000397932.2_Silent_p.F190F	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	190						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGAGCATTTTCCGCAGAGGCC	0.642000													13	19					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242758178	242758178	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:242758178C>G	ENST00000391969.2	+	5	1970	c.1259C>G	c.(1258-1260)tCc>tGc	p.S420C	NEU4_ENST00000407683.1_Missense_Mutation_p.S420C|NEU4_ENST00000404257.1_Missense_Mutation_p.S432C|NEU4_ENST00000325935.6_Missense_Mutation_p.S433C|NEU4_ENST00000405370.1_Missense_Mutation_p.S420C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	420						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGCGGCTACTCCGACCTGGCG	0.652000													8	26					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42375496	42375496	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr15:42375496C>T	ENST00000290472.3	-	8	666	c.572G>A	c.(571-573)gGg>gAg	p.G191E		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	191					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTCATAGGACCCCTTCAGCAC	0.607000													12	37					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1522258	1522258	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:1522258C>T	ENST00000389470.4	-	28	4112	c.4113G>A	c.(4111-4113)tcG>tcA	p.S1371S	INTS1_ENST00000404767.3_Silent_p.S1209S			Q8N201	INT1_HUMAN	integrator complex subunit 1	1209					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGCCTCCTCCGATGTGTCCA	0.642000													10	47					0	0	1	0	0
APOO	79135	broad.mit.edu	37	X	23897032	23897032	+	Splice_Site	SNP	C	C	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chrX:23897032C>A	ENST00000379226.4	-	3	468	c.237_splice	c.e3+1	p.Q79_splice	APOO_ENST00000379220.3_Splice_Site_p.Q79_splice	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	79					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						ACAGTTGTACCTGACACCAGG	0.458000													30	48					5.45727e-16	5.67967e-16	1	1	0
MTTP	4547	broad.mit.edu	37	4	100504674	100504674	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr4:100504674G>T	ENST00000422897.2	+	3	479	c.393G>T	c.(391-393)aaG>aaT	p.K131N	MTTP_ENST00000511045.1_Splice_Site_p.K158_splice|MTTP_ENST00000265517.5_Splice_Site_p.K131_splice|MTTP_ENST00000457717.1_Splice_Site_p.K131_splice			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	131	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCCATGGAAAGGTAAAGGGGC	0.363000													4	48					0.00198382	0.00200191	1	1	0
B4GALNT3	283358	broad.mit.edu	37	12	654081	654081	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr12:654081C>T	ENST00000266383.5	+	5	494	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	161						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGCTGTGTCCCCCAAATGGAC	0.532000													40	52					0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5866709	5866709	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:5866709G>A	ENST00000252675.5	-	5	1590	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	FUT5_ENST00000588525.1_Missense_Mutation_p.S343F			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	343					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CCAGCTGAAGGAGCGAGGCCG	0.632000													15	51					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149915967	149915967	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:149915967G>A	ENST00000369135.3	-	12	2615	c.2321C>T	c.(2320-2322)tCc>tTc	p.S774F		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	774					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			ATTGCTATAGGAATCAGCCAC	0.592000													23	54					0	0	1	0	0
VPS35	55737	broad.mit.edu	37	16	46702913	46702913	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:46702913G>A	ENST00000299138.7	-	13	1634	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	526				R -> G (in Ref. 5; BAA91790).	protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGTGTGAAGCGAATCCGCTGA	0.368000													18	60					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134074074	134074074	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:134074074C>T	ENST00000359428.5	+	29	5337	c.5193C>T	c.(5191-5193)gtC>gtT	p.V1731V	NUP214_ENST00000411637.2_Silent_p.V1721V|NUP214_ENST00000451030.1_Silent_p.V1732V|NUP214_ENST00000483497.2_Silent_p.V557V			P35658	NU214_HUMAN	nucleoporin 214kDa	1731	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGGCCTCAGTCTTTGGGCAGT	0.597000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								19	75					0	0	1	0	0
FRRS1L	23732	broad.mit.edu	37	9	111899872	111899872	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:111899872C>T	ENST00000374581.3	-	5	897	c.898G>A	c.(898-900)Gct>Act	p.A300T		NM_014334.2	NP_055149.2	Q9P0K9	CI004_HUMAN	ferric-chelate reductase 1-like	300						integral to membrane											CGCTCTGAAGCCGGCGGTGAG	0.388000													24	106					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138330013	138330013	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:138330013G>A	ENST00000409968.1	+	17	3488	c.3310G>A	c.(3310-3312)Gat>Aat	p.D1104N	THSD7B_ENST00000413152.2_Missense_Mutation_p.D1076N|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.D1107N					thrombospondin, type I, domain containing 7B											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)		TGGAGCAGTGGATAGCAACCT	0.433000													14	23					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877744	150877744	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr3:150877744G>A	ENST00000474524.1	+	7	1001	c.963G>A	c.(961-963)atG>atA	p.M321I	MED12L_ENST00000422248.2_Missense_Mutation_p.M321I|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.M321I	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	321					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.M321I(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCACATGATGATAGGACCAA	0.607000													52	139					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034345	128034345	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:128034345G>A	ENST00000338791.6	-	16	2115	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y	IMPDH1_ENST00000470772.1_Missense_Mutation_p.H503Y|IMPDH1_ENST00000496200.1_Missense_Mutation_p.H479Y|IMPDH1_ENST00000419067.2_Missense_Mutation_p.H556Y|IMPDH1_ENST00000378717.4_Missense_Mutation_p.H520Y|IMPDH1_ENST00000354269.5_Missense_Mutation_p.H579Y|IMPDH1_ENST00000348127.6_Missense_Mutation_p.H553Y|IMPDH1_ENST00000480861.1_Missense_Mutation_p.H499Y|IMPDH1_ENST00000343214.4_Missense_Mutation_p.H479Y	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	504					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)	TGCAGGCCATGGACACCACCC	0.582000													22	31					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45633718	45633718	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:45633718C>T	ENST00000327619.5	+	4	667	c.293C>T	c.(292-294)tCc>tTc	p.S98F	EYA2_ENST00000357410.3_Missense_Mutation_p.S98F|EYA2_ENST00000317304.6_Missense_Mutation_p.S98F	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	98					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GGAATCCCTTCCTACAGTGAG	0.512000													9	55					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60413502	60413502	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr13:60413502G>A	ENST00000400324.4	-	23	3038	c.2818C>T	c.(2818-2820)Ccc>Tcc	p.P940S	DIAPH3_ENST00000267215.4_Missense_Mutation_p.P940S|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P929S|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P870S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P894S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P940S	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	940	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.P940S(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCAGGAGGGGGAAAGGTTTCC	0.383000													3	41					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93650893	93650893	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr9:93650893C>T	ENST00000375754.4	+	13	1967	c.1819C>T	c.(1819-1821)Ctg>Ttg	p.L607L	SYK_ENST00000375746.1_Silent_p.L607L|SYK_ENST00000375747.1_Silent_p.L584L|SYK_ENST00000375751.4_Silent_p.L584L	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	607	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCTCATGAATCTGTGCTGGAC	0.473000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								4	10					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11303658	11303658	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:11303658G>A	ENST00000432929.2	-	4	1458	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A	KANK2_ENST00000355150.5_Silent_p.A366A|KANK2_ENST00000586659.1_Silent_p.A366A|KANK2_ENST00000589359.1_Silent_p.A366A|KANK2_ENST00000589894.1_Silent_p.A366A	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	366										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCATTGCCAGGGCCCTCAGCC	0.687000													8	46					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435665	158435665	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:158435665T>C	ENST00000289451.2	+	1	394	c.314T>C	c.(313-315)cTc>cCc	p.L105P		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTTTCCTTCCTCTTCTTTGGC	0.502000													4	169					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854355	40854355	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:40854355C>T	ENST00000254691.5	+	3	3120	c.2921C>T	c.(2920-2922)tCc>tTc	p.S974F	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	974	Pro-rich.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGACAAAATCCTGTCAGTCC	0.522000													73	185					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169955	57169955	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:57169955C>T	ENST00000371244.4	+	7	1166	c.1100C>T	c.(1099-1101)cCa>cTa	p.P367L		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	367					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AAACCTCATCCAGAAAGGATG	0.473000													29	76					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	16					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813004	176813004	+	Silent	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr5:176813004G>A	ENST00000324417.5	+	3	217	c.126G>A	c.(124-126)ccG>ccA	p.P42P	SLC34A1_ENST00000512593.1_Silent_p.P42P	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	42					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGATCCCGGGGACCTCTG	0.687000													6	73					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138421106	138421106	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:138421106G>A	ENST00000409968.1	+	26	4790	c.4612G>A	c.(4612-4614)Gat>Aat	p.D1538N	THSD7B_ENST00000413152.2_Missense_Mutation_p.D1510N|THSD7B_ENST00000272643.3_Missense_Mutation_p.D1541N					thrombospondin, type I, domain containing 7B											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)		AAAAATACATGATATTTTTAA	0.363000													13	16					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25071647	25071647	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:25071647C>T	ENST00000533227.1	+	10	858	c.571C>T	c.(571-573)Cca>Tca	p.P191S	LUZP2_ENST00000336930.6_Missense_Mutation_p.P277S	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	277	Leucine-zipper.					extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGAAGGAAATCCAAGTACCAC	0.368000													11	25					0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179887286	179887286	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:179887286A>T	ENST00000435319.3	+	10	1855	c.1664A>T	c.(1663-1665)gAc>gTc	p.D555V	TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.D571V	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	555						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ATGGACCCAGACAAACTGAAT	0.423000													13	93					0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143921887	143921887	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr8:143921887C>T	ENST00000220940.1	+	2	124	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	12					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGCCATGGAGCTCCCATTGGT	0.577000													12	66					0	0	1	0	0
APOL4	80832	broad.mit.edu	37	22	36587426	36587426	+	Silent	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr22:36587426C>T	ENST00000332987.1	-	7	1163	c.741G>A	c.(739-741)agG>agA	p.R247R	APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000352371.1_Silent_p.R250R|APOL4_ENST00000429038.2_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	251					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						CTTTAGATCTCCTGAGTGTAT	0.463000													16	44					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20243646	20243646	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr20:20243646G>A	ENST00000245957.5	+	21	2451	c.2375G>A	c.(2374-2376)aGg>aAg	p.R792K	C20orf26_ENST00000377309.2_Missense_Mutation_p.R148K|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.R148K|C20orf26_ENST00000389656.3_Missense_Mutation_p.R148K	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	792										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTGACAAACAGGGAGGTTCCC	0.463000													16	101					0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27148121	27148121	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:27148121C>T	ENST00000396352.4	-	3	944	c.745G>A	c.(745-747)Gat>Aat	p.D249N	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.D249N	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	249					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCCTTCTGATCCTTTTTGTAC	0.602000													58	125					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													3	6	---	---	---	---					
NEU4	129807	broad.mit.edu	37	2	242757930	242757953	+	In_Frame_Del	DEL	GCAGCCTCGGGGGGATGGCCCCAG	GCAGCCTCGGGGGGATGGCCCCAG	-			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr2:242757930_242757953delGCAGCCTCGGGGGGATGGCCCCAG	ENST00000391969.2	+	5	1722_1745	c.1011_1034delGCAGCCTCGGGGGGATGGCCCCAG	c.(1009-1035)ctg>ct	p.LQPRGDGPR337del	NEU4_ENST00000405370.1_In_Frame_Del_p.LQPRGDGPR337del|NEU4_ENST00000404257.1_In_Frame_Del_p.LQPRGDGPR349del|NEU4_ENST00000325935.6_In_Frame_Del_p.LQPRGDGPR350del|NEU4_ENST00000407683.1_In_Frame_Del_p.LQPRGDGPR337del	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	337	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TCAGCCGTCTGCAGCCTCGGGGGGATGGCCCCAGGCAGCCTGGC	0.714													11	27	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149504082	149504082	+	RNA	DEL	G	G	-			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr7:149504082delG	ENST00000378016.2	+	0	8903							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AACAACTGGTGGGTCACAGCG	0.662													2	4	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													3	3	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													2	4	---	---	---	---					
PPAP2C	8612	broad.mit.edu	37	19	290980	290981	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-EB-A5UL-06A-11D-A30X-08	TCGA-EB-A5UL-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b970591-a78b-43cb-bbac-d05c8e1e0fcb	3183690e-077e-4025-a16a-420ab5f53114	g.chr19:290980_290981delGC	ENST00000327790.3	-	1	189_190	c.86_87delGC	c.(85-87)cfs	p.R29fs	PPAP2C_ENST00000434325.2_Intron|PPAP2C_ENST00000269812.3_Intron	NM_177543.1	NP_808211.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	0					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGATGGAGGCGCGCGCGCGG	0.807													2	4	---	---	---	---