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
HLA-DOB	3112	broad.mit.edu	37	6	32781529	32781529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:32781529C>T	ENST00000438763.2	-	4	821	c.725G>A	c.(724-726)gGa>gAa	p.G242E		NM_002120.3	NP_002111.1			major histocompatibility complex, class II, DO beta											endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						GATGACGATTCCCACCAGAAG	0.517000													3	5					0	0	6.4e-05	0	0
IL6ST	3572	broad.mit.edu	37	5	55250752	55250752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:55250752G>A	ENST00000381298.2	-	11	1648	c.1336C>T	c.(1336-1338)Cca>Tca	p.P446S	IL6ST_ENST00000336909.5_Missense_Mutation_p.P446S|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.P446S|IL6ST_ENST00000381286.3_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	446	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GATTCCCTTGGAGTAGTCCAT	0.383000			O		hepatocellular ca								42	86					0	0	0.000781405	0	0
LAMC1	3915	broad.mit.edu	37	1	183072500	183072500	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:183072500C>T	ENST00000258341.4	+	2	713	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	152	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCAAGTTCCACACCAGCC	0.483000													104	151					0	0	0.000781405	0	0
AFM	173	broad.mit.edu	37	4	74361037	74361037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:74361037G>A	ENST00000226355.3	+	9	1172	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	360	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAATACTCAAGGAGACATCCA	0.348000													32	17					0	0	0.000409698	0	0
BCL11B	64919	broad.mit.edu	37	14	99642133	99642133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:99642133C>T	ENST00000345514.2	-	3	1093	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	BCL11B_ENST00000357195.3_Missense_Mutation_p.R347Q|BCL11B_ENST00000443726.2_Missense_Mutation_p.R153Q	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	347						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGCATGACTCGGTCGAAGGC	0.726000			T	TLX3	T-ALL								11	7					0	0	0.000151284	0	0
OR2M5	127059	broad.mit.edu	37	1	248309049	248309049	+	Silent	SNP	C	C	T	rs148861955		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:248309049C>T	ENST00000366476.1	+	1	600	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	200					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)			AGGTTCTTTTCATCTGCTGTA	0.433000													48	60					0	0	0.000781405	0	0
SMYD1	150572	broad.mit.edu	37	2	88387408	88387408	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:88387408G>A	ENST00000419482.2	+	3	427	c.342G>A	c.(340-342)gtG>gtA	p.V114V	SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.V114V	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGTGGCGGGTGGAGAGAGAAG	0.617000													4	1					0	0	0.00024832	0	0
DYDC2	84332	broad.mit.edu	37	10	82122713	82122713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:82122713G>A	ENST00000372199.1	+	5	752	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	DYDC2_ENST00000444807.2_Missense_Mutation_p.E52K|DYDC2_ENST00000256039.2_Missense_Mutation_p.E52K|DYDC2_ENST00000372197.1_Missense_Mutation_p.E52K|DYDC2_ENST00000372198.1_Missense_Mutation_p.E66K			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	52							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CCAGAATAGGGAAAAGAAGAT	0.493000													42	48					0	0	0.000589545	0	0
SMTNL1	219537	broad.mit.edu	37	11	57317531	57317531	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:57317531G>A	ENST00000457912.1	+	8	1485	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q	SMTNL1_ENST00000527972.1_Silent_p.Q477Q|SMTNL1_ENST00000399154.2_Silent_p.Q440Q			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	477										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CATACATCCAGGAACTGTACC	0.567000													13	15					0	0	0.000219431	0	0
CFHR4	10877	broad.mit.edu	37	1	196874292	196874292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:196874292C>T	ENST00000367416.2	+	3	445	c.308C>T	c.(307-309)tCc>tTc	p.S103F	CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TCTGAATCTTCCTCTATTTAT	0.274000													11	27					0	0	0.000673444	0	0
CR2	1380	broad.mit.edu	37	1	207641906	207641906	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:207641906C>T	ENST00000367057.3	+	3	669	c.480C>T	c.(478-480)atC>atT	p.I160I	CR2_ENST00000367058.3_Silent_p.I160I|CR2_ENST00000367059.3_Silent_p.I160I|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Silent_p.I160I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	160	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCCTATGATCCACAATGGAC	0.433000													11	10					0	0	0.00010058	0	0
FAM3D	131177	broad.mit.edu	37	3	58641329	58641329	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:58641329C>T	ENST00000358781.2	-	2	273		c.e2-1			NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D						negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CAGCTTCCACCTATGGAGAGA	0.483000													14	15					0	0	0.000219431	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2272549	2272549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:2272549G>A	ENST00000290974.2	-	13	2906	c.2567C>T	c.(2566-2568)cCg>cTg	p.P856L	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.P826L|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.P786L|ZFYVE28_ENST00000508471.1_Missense_Mutation_p.P161L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	856					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCGGGGCAGCGGTGCTGAGTG	0.662000													29	30					0	0	0.00058488	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72434327	72434327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:72434327G>A	ENST00000373208.1	+	2	98	c.98G>A	c.(97-99)gGa>gAa	p.G33E	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G33E	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	33					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CACCTCTCTGGAAAGCTCAGT	0.577000													14	22					0	0	0.000566183	0	0
C2CD3	26005	broad.mit.edu	37	11	73850731	73850731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:73850731G>A	ENST00000334126.7	-	4	852	c.626C>T	c.(625-627)cCa>cTa	p.P209L	C2CD3_ENST00000313663.7_Missense_Mutation_p.P209L|C2CD3_ENST00000539061.1_Missense_Mutation_p.P209L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	209						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGGCCTTGATGGAACCTGAAA	0.433000													38	55					0	0	0.000953801	0	0
CUL9	23113	broad.mit.edu	37	6	43153716	43153716	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:43153716C>T	ENST00000252050.4	+	4	858	c.774C>T	c.(772-774)tcC>tcT	p.S258S	CUL9_ENST00000372647.2_Silent_p.S258S|CUL9_ENST00000354495.3_Silent_p.S258S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	258					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCTTTTCTCCTTGGTGAAGC	0.532000													68	52					0	0	0.000781405	0	0
MYOF	26509	broad.mit.edu	37	10	95147624	95147624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:95147624G>A	ENST00000371501.4	-	19	1750	c.1628C>T	c.(1627-1629)aCt>aTt	p.T543I	MYOF_ENST00000359263.4_Missense_Mutation_p.T543I|MYOF_ENST00000371502.4_Missense_Mutation_p.T543I|MYOF_ENST00000358334.5_Missense_Mutation_p.T530I			Q9NZM1	MYOF_HUMAN	myoferlin	543					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCAAGAAAAGTGGCTAATTC	0.423000													27	42					0	0	0.000184323	0	0
INTS2	57508	broad.mit.edu	37	17	59988919	59988919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:59988919G>A	ENST00000444766.3	-	7	1015	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	INTS2_ENST00000251334.6_Missense_Mutation_p.R306W	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	314					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AACCAAGTCCGGACTTTCGCA	0.393000													33	27					0	0	0.000814825	0	0
CDK11A	728642	broad.mit.edu	37	1	1654058	1654058	+	Translation_Start_Site	SNP	C	C	T	rs61777495	by1000genomes	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:1654058C>T	ENST00000356200.3	-	0	212				CDK11A_ENST00000358779.5_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378635.3_Intron|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000404249.3_Intron					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						AAGAACTTCACCGAAGAAGCG	0.338000													6	53					0	0	8.12818e-05	0	0
OR8J3	81168	broad.mit.edu	37	11	55905177	55905177	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:55905177G>A	ENST00000301529.1	-	1	17	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TGACCCTGGTGAAATTTTCAG	0.433000													40	43					0	0	0.000437636	0	0
MKL2	57496	broad.mit.edu	37	16	14354990	14354990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:14354990C>T	ENST00000571589.1	+	17	3161	c.2989C>T	c.(2989-2991)Cct>Tct	p.P997S	MKL2_ENST00000341243.5_Missense_Mutation_p.P986S|MKL2_ENST00000318282.5_Missense_Mutation_p.P947S|MKL2_ENST00000574045.1_Missense_Mutation_p.P947S	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	986					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAATGAAATTCCTCCACTACA	0.468000													16	24					0	0	0.00074312	0	0
WIPF2	147179	broad.mit.edu	37	17	38430092	38430092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:38430092C>T	ENST00000323571.4	+	6	1261	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	WIPF2_ENST00000536600.1_Missense_Mutation_p.P83S|WIPF2_ENST00000585043.1_Missense_Mutation_p.P341S|WIPF2_ENST00000394103.3_Missense_Mutation_p.P83S|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Missense_Mutation_p.P341S	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	341	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GGATGCTCCCCCTCCCCCACC	0.612000										HNSCC(43;0.11)			29	16					0	0	0.000491102	0	0
TMEM109	79073	broad.mit.edu	37	11	60687340	60687340	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:60687340C>T	ENST00000227525.3	+	2	578	c.175C>T	c.(175-177)Cga>Tga	p.R59*	TMEM109_ENST00000536171.1_Nonsense_Mutation_p.R59*|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	59						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CCAGATAGGTCGATCTGTGCG	0.547000													51	43					0	0	0.000781405	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554530	20554530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:20554530C>T	ENST00000329697.6	-	11	1504	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	ACSM2B_ENST00000565232.1_Missense_Mutation_p.D446N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D446N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D367N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	446					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						ATTCCCCGGTCTCCAAGGAGC	0.493000													24	113					0	0	0.000184323	0	0
ZPLD1	131368	broad.mit.edu	37	3	102195856	102195856	+	Splice_Site	SNP	A	A	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:102195856A>C	ENST00000306176.1	+	10	1191	c.1090_splice	c.e10-1	p.D364_splice	ZPLD1_ENST00000466937.1_Splice_Site_p.D348_splice|ZPLD1_ENST00000491959.1_Splice_Site_p.D348_splice	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	348						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTCCCCTCAGATGAGACTCCA	0.303000													31	29					0	0	0.000319135	0	0
NTRK1	4914	broad.mit.edu	37	1	156843593	156843593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:156843593C>T	ENST00000368196.3	+	8	1139	c.1019C>T	c.(1018-1020)aCc>aTc	p.T340I	NTRK1_ENST00000358660.3_Missense_Mutation_p.T340I|NTRK1_ENST00000392302.2_Missense_Mutation_p.T310I|NTRK1_ENST00000524377.1_Missense_Mutation_p.T340I	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	340	Ig-like C2-type 2.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GCCAATGAGACCGTGCGGCAC	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			11	10					0	0	0.000151284	0	0
ABCC3	8714	broad.mit.edu	37	17	48734505	48734505	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:48734505C>T	ENST00000285238.8	+	4	527	c.447C>T	c.(445-447)atC>atT	p.I149I	ABCC3_ENST00000427699.1_Silent_p.I149I	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	149					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCTGCGCCATCGTCCCATTCC	0.582000													49	46					0	0	0.000781405	0	0
CCDC60	160777	broad.mit.edu	37	12	119942879	119942879	+	Silent	SNP	G	G	A	rs117667301	by1000genomes	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:119942879G>A	ENST00000327554.2	+	7	1119	c.654G>A	c.(652-654)aaG>aaA	p.K218K	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	218										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TTTAGACCAAGAAATTCAAAA	0.527000													17	11					0	0	0.00074312	0	0
FAM188A	80013	broad.mit.edu	37	10	15879309	15879309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:15879309G>A	ENST00000277632.3	-	6	690	c.470C>T	c.(469-471)tCg>tTg	p.S157L	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	157					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						ACTTCTGAACGATCTTTTTCT	0.289000													12	16					0	0	6.40141e-05	0	0
MSMO1	6307	broad.mit.edu	37	4	166263024	166263024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:166263024C>T	ENST00000261507.6	+	6	981	c.808C>T	c.(808-810)Cga>Tga	p.R270*	MSMO1_ENST00000393766.2_Nonsense_Mutation_p.R139*	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	270					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	ATGGTGGGATCGAATTTTTGG	0.373000													83	45					0	0	0.000781405	0	0
GLIS3	169792	broad.mit.edu	37	9	3937183	3937183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:3937183C>T	ENST00000324333.10	-	4	1445	c.1252G>A	c.(1252-1254)Ggt>Agt	p.G418S	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.G573S	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	418					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)		TTCTCGCAACCTTCAAACTGC	0.438000													13	14					0	0	0.000219431	0	0
ZNF436	80818	broad.mit.edu	37	1	23688771	23688771	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:23688771C>T	ENST00000314011.4	-	4	1240	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	ZNF436_ENST00000374609.1_Intron|ZNF436_ENST00000374608.3_Silent_p.G368G	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TGAAGCTTTTCCCACAAGCAT	0.463000													39	33					0	0	0.000228196	0	0
MBL2	4153	broad.mit.edu	37	10	54528095	54528095	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:54528095G>A	ENST00000373968.3	-	4	613	c.549C>T	c.(547-549)ttC>ttT	p.F183F	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	183	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGATGCCCAGGAAGGCTTCCT	0.512000													15	28					0	0	0.000308642	0	0
PRTG	283659	broad.mit.edu	37	15	55929375	55929375	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:55929375G>A	ENST00000389286.4	-	15	2663	c.2616C>T	c.(2614-2616)caC>caT	p.H872H		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	872	Fibronectin type-III 5.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TACCTTCACGGTGTAAGACCT	0.398000													52	47					0	0	0.000781405	0	0
OR14C36	127066	broad.mit.edu	37	1	248512210	248512210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:248512210C>T	ENST00000317861.1	+	1	134	c.134C>T	c.(133-135)aCc>aTc	p.T45I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTCATTGTGACCGTCACCACC	0.438000													31	32					0	0	0.000491102	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913451	77913451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:77913451G>A	ENST00000321110.1	-	2	762	c.467C>T	c.(466-468)tCa>tTa	p.S156L		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	156	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTGGGGTTCTGAATTCTTGGG	0.557000													14	1					0	0	0.000422831	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871101	51871101	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:51871101C>T	ENST00000371497.5	+	2	1991	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	TSHZ2_ENST00000603338.2_Silent_p.Y365Y|TSHZ2_ENST00000329613.6_Silent_p.Y365Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	368					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GAGCCAGCTACACCTGGCAGT	0.507000													37	102					0	0	0.000228196	0	0
VPS13B	157680	broad.mit.edu	37	8	100168820	100168820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:100168820G>A	ENST00000395996.1	+	15	2168	c.2057G>A	c.(2056-2058)cGg>cAg	p.R686Q	VPS13B_ENST00000358544.2_Missense_Mutation_p.R686Q|VPS13B_ENST00000355155.1_Missense_Mutation_p.R686Q|VPS13B_ENST00000357162.2_Missense_Mutation_p.R686Q			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	686					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGTCTCTTCGGCCTTTGCCA	0.388000													46	135					0	0	0.000781405	0	0
KCNB1	3745	broad.mit.edu	37	20	47989650	47989650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:47989650G>A	ENST00000371741.4	-	2	2613	c.2447C>T	c.(2446-2448)tCc>tTc	p.S816F		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	816					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)			TGCTTCTGTGGAGTAAATACA	0.517000													50	101					0	0	0.000781405	0	0
FSTL5	56884	broad.mit.edu	37	4	162680614	162680614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:162680614C>T	ENST00000306100.5	-	6	1112	c.676G>A	c.(676-678)Gat>Aat	p.D226N	FSTL5_ENST00000427802.2_Missense_Mutation_p.D225N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D225N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D225N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	226	EF-hand 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCATTAAAATCATCATATTTC	0.338000													46	119					0	0	0.000781405	0	0
LIPE	3991	broad.mit.edu	37	19	42930619	42930619	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:42930619C>T	ENST00000244289.4	-	1	959	c.683G>A	c.(682-684)tGg>tAg	p.W228*	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	228					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				ATCTGTGACCCACTCAGAAAG	0.493000													75	2					0	0	0.000781405	0	0
ZNF778	197320	broad.mit.edu	37	16	89292028	89292028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:89292028G>A	ENST00000433976.2	+	5	642	c.310G>A	c.(310-312)Gag>Aag	p.E104K	ZNF778_ENST00000306502.6_Missense_Mutation_p.E62K	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	104	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGCATCAAATGAGACACAGAC	0.358000													29	19					0	0	0.000279167	0	0
CDH8	1006	broad.mit.edu	37	16	61851400	61851400	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:61851400G>A	ENST00000577390.1	-	7	2214	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	CDH8_ENST00000577730.1_Silent_p.I420I|CDH8_ENST00000584337.1_Silent_p.I420I|CDH8_ENST00000299345.6_Silent_p.I420I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	420	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)		GACTGGAAGTGATATCAGGGT	0.428000													7	4					0	0	0.000157383	0	0
F8	2157	broad.mit.edu	37	X	154227796	154227796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:154227796C>T	ENST00000360256.4	-	2	423	c.223G>A	c.(223-225)Gat>Aat	p.D75N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	75	F5/8 type A 1.|Plastocyanin-like 1.		D -> E (in HEMA; moderate).|D -> V (in dbSNP:rs1800288).|D -> Y (in HEMA; moderate-severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAAGGTGATCCGTGAATTCT	0.388000													68	0					0	0	0.000781405	0	0
COL1A2	1278	broad.mit.edu	37	7	94049546	94049546	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:94049546G>A	ENST00000297268.6	+	35	2552	c.2079_splice	c.e35-1	p.G694_splice		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	694			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCATTATAGGGCGAAGCTGGG	0.502000										HNSCC(75;0.22)			44	4					0	0	0.000374591	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107114004	107114004	+	RNA	SNP	A	A	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:107114004A>C	ENST00000454421.2	-	0	167																											GGCTGGACCAAGCCTTCCCCA	0.577000													5	89					0	0	0.000442599	0	0
APOB	338	broad.mit.edu	37	2	21260127	21260127	+	Splice_Site	SNP	C	C	T	rs143959032	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:21260127C>T	ENST00000233242.1	-	6	665	c.537_splice	c.e6-1	p.D180_splice	APOB_ENST00000399256.4_Splice_Site_p.D180_splice	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	180	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TACACGGTATCCTATGGAGGA	0.498000													123	17					0	0	0.000781405	0	0
PROX1	5629	broad.mit.edu	37	1	214209048	214209048	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:214209048C>T	ENST00000366958.4	+	5	2693	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A	PROX1_ENST00000498508.2_Silent_p.A695A|PROX1_ENST00000261454.4_Silent_p.A695A|PROX1_ENST00000435016.1_Silent_p.A695A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	695	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTTTCAATGCCATTATCGCAG	0.428000													29	41					0	0	0.000409698	0	0
RPL17	6139	broad.mit.edu	37	18	47014931	47014931	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:47014931G>A	ENST00000418495.1	-	7	853	c.513C>T	c.(511-513)tcC>tcT	p.S171S	RPL17_ENST00000580261.1_Silent_p.S171S|RPL17_ENST00000579248.1_Silent_p.S171S|RPL17_ENST00000581373.1_Silent_p.S133S|RPL17_ENST00000580210.1_Silent_p.S161S|RPL17_ENST00000579408.1_Silent_p.S171S|RPL17-C18orf32_ENST00000332968.6_Intron|MIR1539_ENST00000581232.1_RNA|RPL17-C18orf32_ENST00000584895.1_Intron	NM_000985.4|NM_001199340.1	NP_000976.1|NP_001186269.1			ribosomal protein L17											endometrium(1)|kidney(1)|lung(3)	5						GTTTCTTCTGGGATATCTGGG	0.348000													15	29					0	0	0.000422831	0	0
SALL1	6299	broad.mit.edu	37	16	51173808	51173808	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:51173808G>A	ENST00000440970.1	-	2	2465	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.F775F|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	775					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAGCGTTCGTGAACTTCTTCT	0.557000													27	38					0	0	0.000409698	0	0
RUNX1	861	broad.mit.edu	37	21	36206830	36206830	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr21:36206830G>A	ENST00000344691.4	-	4	2178	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	RUNX1_ENST00000325074.5_Silent_p.L216L|RUNX1_ENST00000300305.3_Silent_p.L228L|RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000358356.5_Silent_p.L201L|RUNX1_ENST00000437180.1_Silent_p.L228L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	201	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						AGCTGCTCCAGTTCACTGAGC	0.627000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								53	65					0	0	0.000781405	0	0
PAPD7	11044	broad.mit.edu	37	5	6739885	6739885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:6739885C>T	ENST00000230859.6	+	4	307	c.178C>T	c.(178-180)Cct>Tct	p.P60S		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	60					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGCGTCCTCCTTTACAGCT	0.582000													21	43					0	0	0.000175454	0	0
CACNB2	783	broad.mit.edu	37	10	18807280	18807280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:18807280C>T	ENST00000396576.2	+	7	1156	c.655C>T	c.(655-657)Ccg>Tcg	p.P219S	CACNB2_ENST00000352115.6_Missense_Mutation_p.P250S|CACNB2_ENST00000324631.7_Missense_Mutation_p.P274S|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377331.2_Missense_Mutation_p.P222S|CACNB2_ENST00000377315.4_Missense_Mutation_p.P226S|CACNB2_ENST00000282343.8_Missense_Mutation_p.P246S|CACNB2_ENST00000377329.4_Missense_Mutation_p.P220S|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.P181S	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	274					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCACACTCCTCCGTATGATGT	0.498000													21	34					0	0	0.000720815	0	0
F8	2157	broad.mit.edu	37	X	154227797	154227797	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:154227797C>T	ENST00000360256.4	-	2	422	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	74	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAGGTGATCCGTGAATTCTA	0.388000													68	0					0	0	0.000781405	0	0
HYDIN	54768	broad.mit.edu	37	16	70926280	70926280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:70926280G>A	ENST00000393567.2	-	56	9551	c.9401C>T	c.(9400-9402)cCt>cTt	p.P3134L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3134										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCGCAGAACAGGCTGGTGCTC	0.483000													21	84					0	0	0.000720815	0	0
NRG1	3084	broad.mit.edu	37	8	32617893	32617893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:32617893G>A	ENST00000338921.4	+	12	1778	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	NRG1_ENST00000287840.5_Missense_Mutation_p.D413N|NRG1_ENST00000519301.1_Missense_Mutation_p.D363N|NRG1_ENST00000523079.1_Missense_Mutation_p.D410N|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.D410N|NRG1_ENST00000356819.4_Missense_Mutation_p.D418N|NRG1_ENST00000521670.1_Missense_Mutation_p.D413N|NRG1_ENST00000287845.5_Missense_Mutation_p.D384N|NRG1_ENST00000405005.2_Missense_Mutation_p.D413N|NRG1_ENST00000539990.1_Missense_Mutation_p.D256N			Q02297	NRG1_HUMAN	neuregulin 1	413					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGAAACCCCTGATTCCTACCG	0.542000													39	34					0	0	0.000191422	0	0
PSMG1	8624	broad.mit.edu	37	21	40553707	40553707	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr21:40553707T>G	ENST00000331573.3	-	2	697	c.232A>C	c.(232-234)Aat>Cat	p.N78H	PSMG1_ENST00000380900.2_Missense_Mutation_p.N78H	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	78					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				CCTACTGCATTATTTCCTATA	0.313000													43	53					0	0	0.000781405	0	0
ALOX5	240	broad.mit.edu	37	10	45869841	45869841	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:45869841G>A	ENST00000374391.2	+	1	167	c.114G>A	c.(112-114)ctG>ctA	p.L38L	ALOX5_ENST00000542434.1_Silent_p.L38L	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	38	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	AGCACCTGCTGGACAAGCCCT	0.697000													4	2					0	0	0.000602214	0	0
CCR8	1237	broad.mit.edu	37	3	39374497	39374497	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:39374497G>A	ENST00000326306.4	+	2	813	c.675G>A	c.(673-675)ctG>ctA	p.L225L	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Silent_p.L142L	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	225					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TGCACCAGCTGAAGAGGTGTC	0.418000													9	8					0	0	0.000673444	0	0
AP3B2	8120	broad.mit.edu	37	15	83346471	83346471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:83346471G>A	ENST00000261722.3	-	12	1537	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.R412C|AP3B2_ENST00000535359.1_Missense_Mutation_p.R444C	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	444					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGGTGTCACGGACTCGGCCG	0.547000													12	8					0	0	6.40141e-05	0	0
PTPRT	11122	broad.mit.edu	37	20	41101054	41101054	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:41101054C>T	ENST00000373198.3	-	8	1537	c.1302G>A	c.(1300-1302)caG>caA	p.Q434Q	PTPRT_ENST00000373184.1_Silent_p.Q434Q|PTPRT_ENST00000356100.2_Silent_p.Q434Q|PTPRT_ENST00000373201.1_Silent_p.Q434Q|PTPRT_ENST00000373187.1_Silent_p.Q434Q|PTPRT_ENST00000373190.1_Silent_p.Q434Q|PTPRT_ENST00000373193.3_Silent_p.Q434Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	434	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGGCCTCGTACTGCTGCTGGT	0.627000													26	43					0	0	0.000184323	0	0
PLB1	151056	broad.mit.edu	37	2	28800973	28800973	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:28800973G>A	ENST00000422425.2	+	22	1510		c.e22-1		PLB1_ENST00000329020.6_Splice_Site|PLB1_ENST00000327757.5_Splice_Site	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1						lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGTTTCCACAGGGATCTACCT	0.562000													20	3					0	0	0.000586117	0	0
KCNH5	27133	broad.mit.edu	37	14	63417088	63417088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:63417088C>T	ENST00000322893.7	-	7	1400	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	KCNH5_ENST00000394964.2_Missense_Mutation_p.E320K|KCNH5_ENST00000394968.1_Missense_Mutation_p.E320K|KCNH5_ENST00000420622.2_Missense_Mutation_p.E378K	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	378					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTAGTGACTTCATCAATGACC	0.522000													10	8					0	0	6.40141e-05	0	0
FKBP11	51303	broad.mit.edu	37	12	49317594	49317594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:49317594C>T	ENST00000550765.1	-	5	757	c.359G>A	c.(358-360)gGa>gAa	p.G120E	FKBP11_ENST00000552878.1_Missense_Mutation_p.G120E|FKBP11_ENST00000444214.2_Missense_Mutation_p.G18E|ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000453172.2_Missense_Mutation_p.G120E|AC073610.5_ENST00000537495.1_Intron	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	120	PPIase FKBP-type.				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						TCCCCGTTTTCCATAGGCCAA	0.507000													8	60					0	0	0.000442599	0	0
GLB1L3	112937	broad.mit.edu	37	11	134158708	134158708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:134158708C>T	ENST00000389887.5	+	7	3149	c.653C>T	c.(652-654)cCt>cTt	p.P218L	GLB1L3_ENST00000431683.2_Missense_Mutation_p.P218L			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	218					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CAGGCAGGCCCTGTCATCGCG	0.522000													27	0					0	0	0.000339439	0	0
SCN5A	6331	broad.mit.edu	37	3	38622628	38622628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:38622628G>A	ENST00000413689.1	-	17	3215	c.3022C>T	c.(3022-3024)Ccc>Tcc	p.P1008S	SCN5A_ENST00000455624.2_Missense_Mutation_p.P1008S|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1008S|SCN5A_ENST00000423572.2_Missense_Mutation_p.P1008S|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1008S|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1008S|SCN5A_ENST00000443581.1_Missense_Mutation_p.P1008S|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1008S|SCN5A_ENST00000333535.4_Missense_Mutation_p.P1008S|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1008S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1008					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGGGAGTAGGGGGTGGCAATG	0.692000													10	13					0	0	6.40141e-05	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431406	140431406	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:140431406C>T	ENST00000306549.3	+	1	428	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		117	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGTCCTTCCGGGCCGAGG	0.512000													9	17					0	0	0.000274275	0	0
PDILT	204474	broad.mit.edu	37	16	20387405	20387405	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:20387405G>A	ENST00000302451.4	-	4	776	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	176					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGAAGCCAACGATGACCAAGG	0.522000													12	26					0	0	0.000219431	0	0
LAP3	51056	broad.mit.edu	37	4	17606287	17606287	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:17606287C>T	ENST00000226299.4	+	11	1531	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	LAP3_ENST00000606142.1_Silent_p.F388F|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	419					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						ACAAACTCTTCGAGGTAGGAA	0.413000													22	27					0	0	0.000586117	0	0
TRBC2	28638	broad.mit.edu	37	7	142499823	142499823	+	RNA	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:142499823C>T	ENST00000466254.1	+	0	440																											CTGCCACCATCCTCTATGAGA	0.572000													55	5					0	0	0.000781405	0	0
HNRNPU	3192	broad.mit.edu	37	1	245019253	245019253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:245019253C>T	ENST00000444376.2	-	11	2297	c.2063G>A	c.(2062-2064)aGa>aAa	p.R688K	HNRNPU_ENST00000283179.9_Missense_Mutation_p.R707K	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	707					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TCCACGTCCTCTATGGCCACC	0.403000													60	66					0	0	0.000781405	0	0
CLCN4	1183	broad.mit.edu	37	X	10182112	10182112	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:10182112C>T	ENST00000380833.4	+	11	2359	c.1968C>T	c.(1966-1968)ctC>ctT	p.L656L	CLCN4_ENST00000421085.2_Silent_p.L562L|CLCN4_ENST00000380829.1_Silent_p.L625L	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	656	CBS 1.					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AACTGATTCTCGCAATAAGTG	0.498000													18	0					0	0	0.000958276	0	0
APOH	350	broad.mit.edu	37	17	64216794	64216794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:64216794C>T	ENST00000205948.6	-	5	519	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	161	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GGAATTGTTTCCAGCTGATGG	0.413000													40	75					0	0	0.000781405	0	0
ITGAM	3684	broad.mit.edu	37	16	31309201	31309201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:31309201G>A	ENST00000544665.3	+	14	1707	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	ITGAM_ENST00000287497.8_Missense_Mutation_p.E545K	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	545					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GGCCCCAGGAGAGGAGGACAA	0.622000													31	33					0	0	0.000953801	0	0
COL11A2	1302	broad.mit.edu	37	6	33148473	33148473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:33148473G>A	ENST00000341947.2	-	11	1483	c.1256C>T	c.(1255-1257)cCa>cTa	p.P419L	COL11A2_ENST00000374714.1_Missense_Mutation_p.P393L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P398L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P338L|COL11A2_ENST00000374708.4_Missense_Mutation_p.P333L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P312L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P359L|COL11A2_ENST00000374713.1_Missense_Mutation_p.P372L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	419	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AACTGGGCCTGGGTTCCCCTG	0.612000													19	21					0	0	0.000132079	0	0
COL25A1	84570	broad.mit.edu	37	4	109773436	109773436	+	Splice_Site	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:109773436C>T	ENST00000399132.1	-	26	1875	c.1344_splice	c.e26-1	p.G449_splice	COL25A1_ENST00000399126.1_Splice_Site_p.G449_splice|COL25A1_ENST00000399127.1_Splice_Site_p.G422_splice	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	449	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCAGGGGGACCCTAAATCAAG	0.358000													8	24					0	0	0.000442599	0	0
MYO9B	4650	broad.mit.edu	37	19	17212878	17212878	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:17212878C>T	ENST00000595618.1	+	2	503	c.351C>T	c.(349-351)acC>acT	p.T117T	MYO9B_ENST00000594824.1_Silent_p.T117T|MYO9B_ENST00000397274.2_Silent_p.T117T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	117	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAGATGGAACCATCAAGTACG	0.652000													13	13					0	0	0.00010058	0	0
OR51E2	81285	broad.mit.edu	37	11	4703040	4703040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:4703040C>T	ENST00000396950.3	-	2	1141	c.902G>A	c.(901-903)cGg>cAg	p.R301Q		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R301L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGCCAGCACCCGTGTTCTGAT	0.488000													23	26					0	0	0.000295444	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114283	117114283	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:117114283G>A	ENST00000310357.3	-	6	1824	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S	GPRC6A_ENST00000368549.3_Silent_p.S530S|GPRC6A_ENST00000530250.1_Silent_p.S426S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	601					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTCCCAGTAGGGAGAGAATCA	0.438000													6	0					0	0	0.000157383	0	0
SYT16	83851	broad.mit.edu	37	14	62567164	62567164	+	Silent	SNP	T	T	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:62567164T>G	ENST00000430451.2	+	6	1874	c.1677T>G	c.(1675-1677)cgT>cgG	p.R559R		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	559	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGATGTCCCGTTGCAAGACGT	0.453000													4	4					0	0	3.59834e-05	0	0
KCNB2	9312	broad.mit.edu	37	8	73849483	73849483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:73849483G>A	ENST00000523207.1	+	3	2481	c.1893G>A	c.(1891-1893)atG>atA	p.M631I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	631					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACTTGCAGATGAAGTTCCCAA	0.597000													43	125					0	0	0.000781405	0	0
CYLC2	1539	broad.mit.edu	37	9	105767487	105767487	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:105767487G>C	ENST00000374798.3	+	5	644	c.574G>C	c.(574-576)Gat>Cat	p.D192H	CYLC2_ENST00000487798.1_Missense_Mutation_p.D192H	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	192	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				taacaaaaaagataaaaagga	0.358000													9	20					0	0	0.000442599	0	0
CCR2	729230	broad.mit.edu	37	3	46399426	46399426	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:46399426C>T	ENST00000292301.4	+	2	893	c.408C>T	c.(406-408)atC>atT	p.I136I	CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Silent_p.I136I|CCR2_ENST00000400888.2_Silent_p.I136I	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	136					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TCCTGACAATCGATAGATACC	0.463000													111	170					0	0	0.000781405	0	0
OR6N1	128372	broad.mit.edu	37	1	158735546	158735546	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:158735546C>T	ENST00000335094.2	-	1	946	c.927G>A	c.(925-927)ggG>ggA	p.G309G		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ATGCCAATATCCCAATTCTCT	0.532000													25	35					0	0	0.000147802	0	0
TMC2	117532	broad.mit.edu	37	20	2604977	2604977	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:2604977C>T	ENST00000358864.1	+	17	2256	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	747						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCCAACCTTCCTGGGCAAGA	0.498000													41	38					0	0	0.000680045	0	0
ROS1	6098	broad.mit.edu	37	6	117710787	117710787	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:117710787G>A	ENST00000368508.3	-	12	1683	c.1485C>T	c.(1483-1485)ccC>ccT	p.P495P	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.P504P	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	495					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CATCAGCAAAGGGGATGCGAG	0.418000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								30	3					0	0	0.000491102	0	0
CYP4B1	1580	broad.mit.edu	37	1	47284389	47284389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:47284389C>T	ENST00000271153.4	+	12	1475	c.1439C>T	c.(1438-1440)cCc>cTc	p.P480L	CYP4B1_ENST00000371919.4_Missense_Mutation_p.P466L|CYP4B1_ENST00000452782.2_Missense_Mutation_p.P318L|CYP4B1_ENST00000371923.4_Missense_Mutation_p.P481L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	480					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TCTCTGGACCCCTCACGGCTG	0.577000													26	49					0	0	0.000227799	0	0
RFPL3	10738	broad.mit.edu	37	22	32756441	32756441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:32756441G>A	ENST00000249007.4	+	2	781	c.576G>A	c.(574-576)tgG>tgA	p.W192*	RFPL3_ENST00000397468.1_Nonsense_Mutation_p.W163*|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Nonsense_Mutation_p.W163*	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	192	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCACAGAATGGGACCTGGGAG	0.562000													38	63					0	0	0.000437636	0	0
NPHP3	27031	broad.mit.edu	37	3	132419248	132419248	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:132419248G>A	ENST00000326682.8	-	11	1749	c.1673C>T	c.(1672-1674)tCc>tTc	p.S558F	NPHP3_ENST00000337331.5_Missense_Mutation_p.S558F			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	558					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACAAAATGGGAAAGAATCAG	0.373000													25	24					0	0	0.000339439	0	0
CASR	846	broad.mit.edu	37	3	122002712	122002712	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:122002712C>T	ENST00000498619.1	+	7	2379	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	CASR_ENST00000490131.1_Silent_p.F637F|CASR_ENST00000296154.5_Silent_p.F637F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	637					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTATCAAGTTCCGCAACACAC	0.562000													29	28					0	0	0.000147802	0	0
CEACAM19	56971	broad.mit.edu	37	19	45175912	45175912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:45175912C>T	ENST00000358777.4	+	2	580	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000403660.3_Missense_Mutation_p.L34F|CEACAM19_ENST00000480278.1_3'UTR	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	34						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CCAGGCAGCTCTCTACATCCA	0.562000													65	6					0	0	0.000781405	0	0
MMP2	4313	broad.mit.edu	37	16	55517983	55517983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:55517983C>T	ENST00000219070.4	+	3	945	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	MMP2_ENST00000570308.1_Missense_Mutation_p.R70C|MMP2_ENST00000437642.2_Missense_Mutation_p.R96C|MMP2_ENST00000543485.1_Missense_Mutation_p.R70C	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	146	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGCCTTTGCTCGTGCCTTCCA	0.522000													33	52					0	0	0.000692331	0	0
RERGL	79785	broad.mit.edu	37	12	18234137	18234137	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:18234137C>T	ENST00000229002.2	-	6	812	c.606G>A	c.(604-606)agG>agA	p.R202R	RERGL_ENST00000538724.1_Silent_p.R201R	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	202	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						AAACAGATTTCCTTCTCTTTC	0.333000													13	24					0	0	0.000219431	0	0
ADSL	158	broad.mit.edu	37	22	40761016	40761016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:40761016C>T	ENST00000216194.7	+	12	1380	c.1324C>T	c.(1324-1326)Cat>Tat	p.H442Y	ADSL_ENST00000454266.2_Missense_Mutation_p.H456Y|ADSL_ENST00000342312.6_Intron	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	442					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CCAGTTGGATCATTTACTGGA	0.517000													27	112					0	0	0.000339439	0	0
OLFML2B	25903	broad.mit.edu	37	1	161989878	161989878	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:161989878T>C	ENST00000294794.3	-	2	692	c.269A>G	c.(268-270)cAg>cGg	p.Q90R	OLFML2B_ENST00000367940.2_Missense_Mutation_p.Q90R	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	90										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATTGATCCTCTGGCAGGCATC	0.587000													48	44					0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453135	140453135	+	Silent	SNP	C	C	T	rs121913377		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:140453135C>T	ENST00000288602.6	-	15	1860	c.1800G>A	c.(1798-1800)gtG>gtA	p.V600V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(36)|p.V600D(16)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.V600V(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATCGAGATTTCACTGTAGCTA	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				34	1					0	0	0.000191422	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749371	79749371	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:79749371C>T	ENST00000305428.3	+	2	957	c.882C>T	c.(880-882)ccC>ccT	p.P294P		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	294						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GAAAGGAACCCCACAAGCCAC	0.507000													50	61					0	0	0.000781405	0	0
OR56A4	120793	broad.mit.edu	37	11	6023602	6023602	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:6023602C>T	ENST00000330728.4	-	1	822	c.777G>A	c.(775-777)tgG>tgA	p.W259*		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAACAGAGTCCAGCCTGCCA	0.443000													15	16					0	0	0.000422831	0	0
OSGIN2	734	broad.mit.edu	37	8	90937444	90937444	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:90937444A>G	ENST00000451899.2	+	6	1594	c.1334A>G	c.(1333-1335)aAg>aGg	p.K445R	OSGIN2_ENST00000297438.2_Missense_Mutation_p.K401R	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	401					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCTGGATTGAAGAAAATATTT	0.408000													75	38					0	0	0.000781405	0	0
FAT4	79633	broad.mit.edu	37	4	126411080	126411080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:126411080C>T	ENST00000394329.3	+	17	13116	c.13103C>T	c.(13102-13104)tCt>tTt	p.S4368F	FAT4_ENST00000335110.5_Missense_Mutation_p.S2609F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4368	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCATTGCTTCTATGTGGTAT	0.443000													136	111					0	0	0.000781405	0	0
TEX13A	56157	broad.mit.edu	37	X	104464352	104464352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:104464352C>T	ENST00000372578.3	-	3	637	c.526G>A	c.(526-528)Gag>Aag	p.E176K	IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E176K|TEX13A_ENST00000413579.1_Missense_Mutation_p.E176K	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	176						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCTTCTTCCTCCTCAGCTGCT	0.637000													20	3					0	0	0.000720815	0	0
SLC7A2	6542	broad.mit.edu	37	8	17401205	17401205	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:17401205C>T	ENST00000470360.1	+	4	594	c.477C>T	c.(475-477)ctC>ctT	p.L159L	SLC7A2_ENST00000004531.10_Silent_p.L159L|SLC7A2_ENST00000494857.1_Silent_p.L119L|SLC7A2_ENST00000522656.1_Silent_p.L119L|SLC7A2_ENST00000398090.3_Silent_p.L159L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	119					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTGGAATCTCATTTTATCGT	0.473000													42	37					0	0	0.000781405	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146121	31146121	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:31146121G>A	ENST00000304166.4	+	16	1519	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	ADCYAP1R1_ENST00000409489.1_Silent_p.E466E|ADCYAP1R1_ENST00000396211.2_Silent_p.E438E|ADCYAP1R1_ENST00000409363.1_Silent_p.E389E	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	410					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TACAAGCGGAGATCAAGCGAA	0.612000													26	23					0	0	0.000720815	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507471	74507471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:74507471G>A	ENST00000354431.4	-	7	1335	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P382S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	382										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ATTGGCTGAGGATATGCAGGA	0.348000													24	28					0	0	0.000878237	0	0
STC1	6781	broad.mit.edu	37	8	23702457	23702457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:23702457C>T	ENST00000290271.2	-	4	853	c.570G>A	c.(568-570)atG>atA	p.M190I	STC1_ENST00000524323.1_Missense_Mutation_p.M121I	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	190					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGAGGCTGGCCATGTTAGGCC	0.517000													19	21					0	0	0.000958276	0	0
COL27A1	85301	broad.mit.edu	37	9	116956705	116956705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:116956705C>T	ENST00000356083.3	+	6	2429	c.2038C>T	c.(2038-2040)Ctc>Ttc	p.L680F		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	680	Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGACCCAGGGCTCTCACCAGG	0.517000													25	97					0	0	0.000279167	0	0
MYH8	4626	broad.mit.edu	37	17	10321977	10321977	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:10321977G>A	ENST00000403437.2	-	5	590	c.496C>T	c.(496-498)Cag>Tag	p.Q166*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	166	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AACATGAACTGATAGGCATTG	0.507000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				63	75					0	0	0.000781405	0	0
ZNF292	23036	broad.mit.edu	37	6	87965185	87965185	+	Missense_Mutation	SNP	C	C	T	rs79715650		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:87965185C>T	ENST00000369577.3	+	8	1881	c.1838C>T	c.(1837-1839)cCa>cTa	p.P613L	ZNF292_ENST00000339907.4_Missense_Mutation_p.P608L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGAAGGCCTCCAAAGATCACA	0.363000													14	0					0	0	0.000422831	0	0
PCSK2	5126	broad.mit.edu	37	20	17339059	17339059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:17339059C>T	ENST00000262545.2	+	3	685	c.370C>T	c.(370-372)Cct>Tct	p.P124S	PCSK2_ENST00000536609.1_Missense_Mutation_p.P89S|PCSK2_ENST00000377899.1_Missense_Mutation_p.P105S	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	124	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATGAACGATCCTCTTTTTAC	0.408000													10	11					0	0	0.000673444	0	0
PTGER2	5732	broad.mit.edu	37	14	52793975	52793975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:52793975G>A	ENST00000245457.5	+	2	1034	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	PTGER2_ENST00000557436.1_Missense_Mutation_p.E39K	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	294						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TTCCCGAAAGGAAAAATGGGA	0.398000													22	29					0	0	0.00047179	0	0
FAM83B	222584	broad.mit.edu	37	6	54805927	54805927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:54805927G>A	ENST00000306858.7	+	5	2274	c.2158G>A	c.(2158-2160)Gat>Aat	p.D720N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	720										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTGGAGGAGGATGAGGAGGA	0.398000													26	21					0	0	0.000184323	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:155887393T>G	ENST00000368320.3	-	11	1362	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P			Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													10	37					0	0	0.000442599	0	0
TRPV1	7442	broad.mit.edu	37	17	3494570	3494570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:3494570G>A	ENST00000174621.6	-	3	575	c.286C>T	c.(286-288)Ccg>Tcg	p.P96S	TRPV1_ENST00000399759.3_Missense_Mutation_p.A121V|TRPV1_ENST00000571088.1_Missense_Mutation_p.A121V|TRPV1_ENST00000576351.1_Missense_Mutation_p.A121V|TRPV1_ENST00000425167.2_Missense_Mutation_p.A121V|TRPV1_ENST00000310522.5_Missense_Mutation_p.A121V|TRPV1_ENST00000399756.4_Missense_Mutation_p.A121V|SHPK_ENST00000572705.1_Missense_Mutation_p.A121V			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	795					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTGAGCAACGGCTTCAAAGAT	0.572000													28	27					0	0	0.000147802	0	0
BACH1	571	broad.mit.edu	37	21	30715024	30715024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr21:30715024G>A	ENST00000399921.1	+	5	2324	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	BACH1_ENST00000286800.3_Missense_Mutation_p.R694Q	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	694						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GGCTACGCGCGAGGGCAGGAG	0.577000													33	19					0	0	0.000491102	0	0
PDE9A	5152	broad.mit.edu	37	21	44171281	44171281	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr21:44171281C>T	ENST00000291539.6	+	9	769	c.709C>T	c.(709-711)Cga>Tga	p.R237*	PDE9A_ENST00000349112.3_Nonsense_Mutation_p.R109*|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.R196*|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.R177*|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.R110*|PDE9A_ENST00000398236.3_Nonsense_Mutation_p.R151*|PDE9A_ENST00000398227.3_Nonsense_Mutation_p.R77*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.R184*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.R109*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.R103*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.R170*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.R136*|PDE9A_ENST00000335440.6_Nonsense_Mutation_p.R135*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.R211*	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	237					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GTTGACTCCTCGACGCGATGT	0.557000													97	137					0	0	0.000781405	0	0
RAB6B	51560	broad.mit.edu	37	3	133553457	133553457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:133553457G>A	ENST00000285208.4	-	7	873	c.524C>T	c.(523-525)cCc>cTc	p.P175L	RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Missense_Mutation_p.P162L|RAB6B_ENST00000543906.1_Missense_Mutation_p.P175L	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	175					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						CTCCATTCCGGGTAGAGCCGA	0.483000													31	52					0	0	0.000491102	0	0
CLDN7	1366	broad.mit.edu	37	17	7163815	7163815	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:7163815A>C	ENST00000360325.7	-	4	948	c.514T>G	c.(514-516)Tct>Gct	p.S172A	CLDN7_ENST00000538261.3_Silent_p.G143G|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Missense_Mutation_p.S172A	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	172					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	p.S172A(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ACTAGGGCAGACCCTGCCCAG	0.572000													4	10					0	0	3.59834e-05	0	0
EDEM1	9695	broad.mit.edu	37	3	5229591	5229591	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:5229591A>C	ENST00000256497.4	+	1	234	c.101A>C	c.(100-102)tAc>tCc	p.Y34S	AC026202.1_ENST00000600805.1_Missense_Mutation_p.V131G	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	34					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		ATGGGCTTCTACCAGCGCTTT	0.701000													5	6					0	0	0.000602214	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64625228	64625228	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:64625228G>A	ENST00000536360.1	-	9	2013	c.1200C>T	c.(1198-1200)acC>acT	p.T400T				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	400	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CATGTGCAATGGTAAAAGCTG	0.418000													11	6					0	0	0.00010058	0	0
GALR1	2587	broad.mit.edu	37	18	74963143	74963143	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:74963143C>T	ENST00000299727.3	+	1	639	c.639C>T	c.(637-639)ctC>ctT	p.L213L		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	213					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGCTGCCGCTCCTGCTCATCT	0.687000													21	40					0	0	0.000720815	0	0
TBX10	347853	broad.mit.edu	37	11	67402374	67402374	+	Missense_Mutation	SNP	G	G	A	rs148072042		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:67402374G>A	ENST00000335385.3	-	3	377	c.290C>T	c.(289-291)cCc>cTc	p.P97L		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	97					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CACCTGGAAGGGGGGGAACAT	0.677000													14	32					0	0	0.000219431	0	0
SERPINA3	12	broad.mit.edu	37	14	95080940	95080940	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:95080940G>A	ENST00000553947.1	+	5	1125	c.237G>A	c.(235-237)gtG>gtA	p.V79V	SERPINA3_ENST00000393080.4_Silent_p.V54V|SERPINA3_ENST00000467132.1_Silent_p.V54V|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Silent_p.V54V			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	54					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CCGCCAACGTGGACTTCGCTT	0.562000													52	56					0	0	0.000781405	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045287	76045287	+	Silent	SNP	G	G	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:76045287G>T	ENST00000335749.4	+	3	713	c.144G>T	c.(142-144)gcG>gcT	p.A48A	TNRC6C_ENST00000588061.1_Silent_p.A48A|TNRC6C_ENST00000588847.1_Silent_p.A48A|TNRC6C_ENST00000541771.1_Silent_p.A48A|TNRC6C_ENST00000544502.1_Silent_p.A48A|TNRC6C_ENST00000301624.4_Silent_p.A48A	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	48	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ATGGAAGTGCGGCCAGAGTGT	0.547000													51	71					2.2618e-39	2.90839e-38	0.000781405	1	0
HCG9	10255	broad.mit.edu	37	6	29943083	29943083	+	RNA	SNP	G	G	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:29943083G>C	ENST00000376800.3	+	0	195																											CAACTCCAGGGACTGCGGCCC	0.647000													10	16					0	0	0.000442599	0	0
TEP1	7011	broad.mit.edu	37	14	20871927	20871927	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:20871927C>T	ENST00000262715.5	-	6	1189	c.1149G>A	c.(1147-1149)cgG>cgA	p.R383R	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	383	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCGGTGCTTCCGAGGGTTGT	0.617000													45	60					0	0	0.000781405	0	0
ZFAND4	93550	broad.mit.edu	37	10	46121451	46121451	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:46121451T>G	ENST00000374366.3	-	8	2063	c.1598A>C	c.(1597-1599)gAa>gCa	p.E533A	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.E607A|ZFAND4_ENST00000374371.2_Intron			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	607							zinc ion binding										AAAGTTTTCTTCCTGAAAATG	0.443000													23	29					0	0	0.00047179	0	0
NSMAF	8439	broad.mit.edu	37	8	59515881	59515881	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:59515881G>A	ENST00000038176.3	-	13	1145	c.933C>T	c.(931-933)tcC>tcT	p.S311S	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Silent_p.S342S	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	311	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ACTGATAGTTGGAAAGGTGTC	0.547000													34	87					0	0	0.000409698	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633483	70633483	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:70633483G>A	ENST00000381269.2	-	2	2410	c.1657C>T	c.(1657-1659)Ctg>Ttg	p.L553L	SLC8A3_ENST00000534137.1_Silent_p.L553L|SLC8A3_ENST00000356921.2_Silent_p.L553L|SLC8A3_ENST00000357887.3_Silent_p.L553L|SLC8A3_ENST00000528359.1_Silent_p.L553L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	553	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GATGTCCGCAGAACCTTGACC	0.493000													10	17					0	0	0.000673444	0	0
ZNF680	340252	broad.mit.edu	37	7	63982563	63982563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:63982563G>A	ENST00000309683.6	-	4	720	c.569C>T	c.(568-570)tCa>tTa	p.S190L	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				CATGCAAAATGATTTGCCACA	0.308000													35	1					0	0	0.000409698	0	0
PGBD4	161779	broad.mit.edu	37	15	34395873	34395873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:34395873G>A	ENST00000397766.2	+	1	1600	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	381										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ATTCTGTGGTGAACTTATGGC	0.413000													55	64					0	0	0.000781405	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512983	69512983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:69512983G>A	ENST00000338206.5	-	6	1441	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	478					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCTGCGACTCGAAGGTGCTTG	0.478000													51	31					0	0	0.000781405	0	0
SLC12A3	6559	broad.mit.edu	37	16	56918052	56918052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:56918052G>A	ENST00000438926.2	+	14	1790	c.1761G>A	c.(1759-1761)tgG>tgA	p.W587*	SLC12A3_ENST00000262502.5_Nonsense_Mutation_p.W586*|SLC12A3_ENST00000563236.1_Nonsense_Mutation_p.W587*|SLC12A3_ENST00000566786.1_Nonsense_Mutation_p.W586*	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	587					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCACCTGGTGGGCGGCCCTCA	0.597000													33	33					0	0	0.00058488	0	0
PSME3	10197	broad.mit.edu	37	17	40990768	40990768	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:40990768C>T	ENST00000293362.3	+	7	626	c.465C>T	c.(463-465)ctC>ctT	p.L155L	PSME3_ENST00000441946.2_Silent_p.L153L|PSME3_ENST00000545225.1_Silent_p.L81L|PSME3_ENST00000590720.1_Silent_p.L142L|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Silent_p.L86L	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	142					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGTACAGCTCCTGATTCCCA	0.458000													61	64					0	0	0.000781405	0	0
ROBO2	6092	broad.mit.edu	37	3	77684063	77684063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:77684063C>T	ENST00000461745.1	+	24	4703	c.3803C>T	c.(3802-3804)cCa>cTa	p.P1268L	ROBO2_ENST00000487694.3_Missense_Mutation_p.P1284L|ROBO2_ENST00000332191.8_Missense_Mutation_p.P1329L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1268					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTACCAGCCCATTTTCTACT	0.468000													26	48					0	0	0.000339439	0	0
ACSM1	116285	broad.mit.edu	37	16	20634825	20634825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:20634825C>T	ENST00000219151.4	-	14	1880	c.670G>A	c.(670-672)Gag>Aag	p.E224K	ACSM1_ENST00000307493.4_Missense_Mutation_p.E573K|ACSM1_ENST00000520010.1_Missense_Mutation_p.E573K			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	573					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						TGACCAGTCTCCTTTTTCCGA	0.493000													34	48					0	0	0.000509022	0	0
POMT1	10585	broad.mit.edu	37	9	134390882	134390882	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:134390882C>T	ENST00000423007.1	+	13	1687	c.1245C>T	c.(1243-1245)tcC>tcT	p.S415S	POMT1_ENST00000404875.2_Silent_p.S298S|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000354713.4_Silent_p.S385S|POMT1_ENST00000541219.1_Silent_p.S193S|POMT1_ENST00000419118.2_Silent_p.S263S|POMT1_ENST00000372228.3_Silent_p.S437S|POMT1_ENST00000402686.3_Silent_p.S415S|POMT1_ENST00000341012.7_Silent_p.S361S	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	437	MIR 2.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		ATAACATCTCCATGCCCGCCC	0.532000													46	31					0	0	0.000680045	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075359	106075359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:106075359G>A	ENST00000278071.2	-	3	903	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	ITPRIP_ENST00000358187.2_Missense_Mutation_p.R151W|ITPRIP_ENST00000337478.1_Missense_Mutation_p.R151W	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	151						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GTGGCCCCCCGGATGCAGCGC	0.672000													13	11					0	0	0.00010058	0	0
GPR98	84059	broad.mit.edu	37	5	89953898	89953898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:89953898G>A	ENST00000405460.2	+	21	4651	c.4555G>A	c.(4555-4557)Gga>Aga	p.G1519R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1519	Calx-beta 10.				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)		GTTCAGACAGGGAGAAACTAA	0.383000													61	30					0	0	0.000781405	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286808	55286808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:55286808G>A	ENST00000336077.6	+	4	602	c.562G>A	c.(562-564)Ggc>Agc	p.G188S	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.G188S|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	188	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTTTCCTCTGGGCCCTGCCAC	0.557000													65	3					0	0	0.000781405	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48604769	48604769	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:48604769G>A	ENST00000323776.5	+	15	2582	c.2420_splice	c.e15+1	p.C807_splice	MYCBPAP_ENST00000436259.2_Splice_Site_p.C770_splice	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	770					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CACCAGATGTGGTAGGTGCCC	0.607000													27	36					0	0	0.000184323	0	0
DPYSL2	1808	broad.mit.edu	37	8	26441409	26441409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:26441409C>T	ENST00000311151.5	+	3	635	c.223C>T	c.(223-225)Cgt>Tgt	p.R75C	DPYSL2_ENST00000523027.1_Missense_Mutation_p.R39C|DPYSL2_ENST00000521913.1_Missense_Mutation_p.R39C	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	75					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)		CGTCCACACTCGTTTCCAGAT	0.522000													52	75					0	0	0.000781405	0	0
DSC2	1824	broad.mit.edu	37	18	28660275	28660275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:28660275C>T	ENST00000280904.6	-	10	1750	c.1307G>A	c.(1306-1308)gGt>gAt	p.G436D	DSC2_ENST00000251081.6_Missense_Mutation_p.G436D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	436	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATTAACTACACCAATTTGCAA	0.383000													7	12					0	0	0.000274275	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129477	68129477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:68129477C>T	ENST00000585558.1	+	4	1742	c.1354C>T	c.(1354-1356)Caa>Taa	p.Q452*	KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.Q417*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.Q456*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.Q417*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.Q417*|KCNJ16_ENST00000589377.1_Nonsense_Mutation_p.Q417*			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	417					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGTAGAATCCCAAATGTAGTC	0.398000													10	16					0	0	0.00010058	0	0
GPR115	221393	broad.mit.edu	37	6	47686167	47686167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:47686167C>T	ENST00000283303.2	+	9	2335	c.2077C>T	c.(2077-2079)Cgt>Tgt	p.R693C	GPR115_ENST00000327753.3_Missense_Mutation_p.R693C|GPR115_ENST00000371220.1_Missense_Mutation_p.R750C	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	693					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ATTAATGAATCGTCAAGGATG	0.348000													225	112					0	0	0.000781405	0	0
GLRA1	2741	broad.mit.edu	37	5	151234673	151234673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:151234673C>T	ENST00000274576.4	-	6	917	c.625G>A	c.(625-627)Gga>Aga	p.G209R	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Missense_Mutation_p.G126R|GLRA1_ENST00000455880.2_Missense_Mutation_p.G209R	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	209					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGAGTTAGTCCATCTGCTACC	0.502000													41	12					0	0	0.000374591	0	0
NCAN	1463	broad.mit.edu	37	19	19339337	19339337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:19339337G>A	ENST00000252575.5	+	8	2951	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K	NCAN_ENST00000538881.1_Missense_Mutation_p.E421K	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	970					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAGGACTTCGAACTGGAGGT	0.642000													56	39					0	0	0.000781405	0	0
ABHD17B	51104	broad.mit.edu	37	9	74481741	74481741	+	Silent	SNP	A	A	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:74481741A>G	ENST00000333421.6	-	4	940	c.829T>C	c.(829-831)Ttg>Ctg	p.L277L	ABHD17B_ENST00000377041.2_Silent_p.L277L	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		AACTGTTTCAACCTTTCAAGA	0.408000													10	12					0	0	0.00010058	0	0
OR4M2	390538	broad.mit.edu	37	15	22368636	22368636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:22368636C>T	ENST00000332663.2	+	1	159	c.61C>T	c.(61-63)Cca>Tca	p.P21S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCCCAGACTCCAGAGGTCCA	0.363000													6	19					0	0	3.59834e-05	0	0
MC2R	4158	broad.mit.edu	37	18	13884916	13884916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:13884916C>T	ENST00000327606.3	-	2	782	c.602G>A	c.(601-603)cGa>cAa	p.R201Q		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	201					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGTGTGGGATCGAGCCAGCAG	0.577000													13	29					0	0	0.000422831	0	0
OBSCN	84033	broad.mit.edu	37	1	228529214	228529214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:228529214C>T	ENST00000570156.2	+	85	20878	c.20804C>T	c.(20803-20805)tCg>tTg	p.S6935L	OBSCN_ENST00000284548.11_Missense_Mutation_p.S5978L|OBSCN_ENST00000366709.4_Missense_Mutation_p.S3097L|OBSCN_ENST00000422127.1_Missense_Mutation_p.S5978L|OBSCN_ENST00000366707.4_Missense_Mutation_p.S3612L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5978					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)				CGGGAGGACTCGGTGCGCAAG	0.642000													17	21					0	0	0.00074312	0	0
NUP210	23225	broad.mit.edu	37	3	13367412	13367412	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:13367412G>A	ENST00000254508.5	-	33	4609	c.4527C>T	c.(4525-4527)agC>agT	p.S1509S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1509					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGCCGAGGAGCTCCAGGTTC	0.627000													41	55					0	0	0.000680045	0	0
EMILIN3	90187	broad.mit.edu	37	20	39992396	39992396	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:39992396G>A	ENST00000332312.3	-	3	588	c.396C>T	c.(394-396)caC>caT	p.H132H		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	132						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GGTCCGTGAGGTGCTCAGGGC	0.622000													34	55					0	0	0.000270559	0	0
PPAPDC2	403313	broad.mit.edu	37	9	4662890	4662890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:4662890C>T	ENST00000381883.2	+	1	593	c.515C>T	c.(514-516)gCc>gTc	p.A172V	SPATA6L_ENST00000475086.1_Intron|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000454239.2_Intron|SPATA6L_ENST00000223517.5_Intron|SPATA6L_ENST00000381895.5_Intron	NM_203453.3	NP_982278.3	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain containing 2	172						integral to membrane	hydrolase activity			endometrium(1)|large_intestine(2)|lung(1)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		CTGCTCTTCGCCCTGCTGTTG	0.652000													9	9					0	0	0.000442599	0	0
EFCAB6	64800	broad.mit.edu	37	22	43972313	43972313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:43972313C>T	ENST00000262726.7	-	26	3537	c.3284G>A	c.(3283-3285)gGa>gAa	p.G1095E	EFCAB6_ENST00000396231.2_Missense_Mutation_p.G943E	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1095	EF-hand 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AAGAACTTGTCCGAATTCTGT	0.323000													49	83					0	0	0.000781405	0	0
FRAS1	80144	broad.mit.edu	37	4	79236762	79236762	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:79236762T>G	ENST00000264895.6	+	16	2133	c.1693T>G	c.(1693-1695)Tgt>Ggt	p.C565G	FRAS1_ENST00000325942.6_Missense_Mutation_p.C565G|FRAS1_ENST00000264899.6_Missense_Mutation_p.C565G	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	565					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGACCAATCCTGTGACAGTTG	0.478000													16	96					0	0	0.000566183	0	0
ASMTL	8623	broad.mit.edu	37	X	1546780	1546780	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:1546780G>A	ENST00000534940.1	-	7	795	c.570C>T	c.(568-570)ccC>ccT	p.P190P	ASMTL_ENST00000381317.3_Silent_p.P248P|ASMTL_ENST00000416733.2_Silent_p.P172P|ASMTL_ENST00000381333.4_Silent_p.P232P|ASMTL_ENST00000463763.1_5'UTR	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	248	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCCTCTGAGTGGGCTCCGAGC	0.706000													45	46					0	0	0.000781405	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309797	22309797	+	RNA	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:22309797G>A	ENST00000390433.1	+	0	181																											GTACAGACAGGATTGCAGGAA	0.468000													11	14					0	0	6.40141e-05	0	0
MEFV	4210	broad.mit.edu	37	16	3306433	3306433	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:3306433T>C	ENST00000219596.1	-	1	194	c.155A>G	c.(154-156)aAg>aGg	p.K52R	MEFV_ENST00000339854.4_Missense_Mutation_p.K52R|MEFV_ENST00000541159.1_Missense_Mutation_p.K52R|MEFV_ENST00000536379.1_Missense_Mutation_p.K52R	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	52	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	AGTGGCCATCTTCACCGGCCT	0.602000													51	51					0	0	0.000781405	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602855	37602855	+	Silent	SNP	C	C	T	rs141312847		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr21:37602855C>T	ENST00000399151.3	+	14	1858	c.1773C>T	c.(1771-1773)atC>atT	p.I591I		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	591					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACAGTGGGATCGGGCTCAGTG	0.522000													48	54					0	0	0.000781405	0	0
AP1B1	162	broad.mit.edu	37	22	29727460	29727460	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:29727460G>A	ENST00000357586.2	-	19	2688	c.2502C>T	c.(2500-2502)ctC>ctT	p.L834L	AP1B1_ENST00000405198.1_Silent_p.L834L|AP1B1_ENST00000402502.1_Silent_p.L827L|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000415447.1_Silent_p.L827L|AP1B1_ENST00000317368.7_Silent_p.L807L|AP1B1_ENST00000356015.2_Silent_p.L827L|AP1B1_ENST00000432560.2_Silent_p.L827L	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	834					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCTCCACAAAGAGGATGTGCA	0.582000													76	98					0	0	0.000781405	0	0
SPAG16	79582	broad.mit.edu	37	2	214174822	214174822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:214174822G>A	ENST00000413312.1	+	3	472	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	SPAG16_ENST00000331683.5_Missense_Mutation_p.E107K|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000272898.7_Missense_Mutation_p.E107K|SPAG16_ENST00000432529.2_Missense_Mutation_p.E107K|SPAG16_ENST00000447990.1_Missense_Mutation_p.E107K			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	107					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)		TGCAGTACCTGAAGTAATAGA	0.318000													7	0					0	0	0.000157383	0	0
GRM8	2918	broad.mit.edu	37	7	126173839	126173839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:126173839G>A	ENST00000339582.2	-	9	2405	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	GRM8_ENST00000444921.2_Missense_Mutation_p.P533S|GRM8_ENST00000358373.3_Missense_Mutation_p.P533S|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	533					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAGCAGCAAGGGACCCCTTTC	0.552000										HNSCC(24;0.065)			41	2					0	0	0.000319135	0	0
HCN4	10021	broad.mit.edu	37	15	73622119	73622119	+	Missense_Mutation	SNP	C	C	T	rs146714274		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:73622119C>T	ENST00000261917.3	-	4	2378	c.1385G>A	c.(1384-1386)gGg>gAg	p.G462E		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	462					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTACTGCTTCCCCCAGGAGTT	0.622000													11	17					0	0	0.00010058	0	0
GRM8	2918	broad.mit.edu	37	7	126173704	126173704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:126173704C>T	ENST00000339582.2	-	9	2540	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	GRM8_ENST00000444921.2_Missense_Mutation_p.E578K|GRM8_ENST00000358373.3_Missense_Mutation_p.E578K|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	578					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAATGCCACTCCAATTTGATG	0.512000										HNSCC(24;0.065)			21	1					0	0	0.000175454	0	0
ASTN1	460	broad.mit.edu	37	1	176833599	176833599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:176833599G>A	ENST00000367654.2	-	23	3743	c.3730C>T	c.(3730-3732)Ctt>Ttt	p.L1244F	ASTN1_ENST00000361833.2_Missense_Mutation_p.L1236F|ASTN1_ENST00000367657.3_Intron			O14525	ASTN1_HUMAN	astrotactin 1	1244					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTTCCTGAAGGAGTCCATTG	0.532000													16	25					0	0	0.000566183	0	0
IMPA2	3613	broad.mit.edu	37	18	12009942	12009942	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:12009942G>A	ENST00000269159.3	+	3	533	c.291G>A	c.(289-291)acG>acA	p.T97T	IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000589238.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	97					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	ACAGCCCGACGTGGATCATCG	0.572000													36	77					0	0	0.000191422	0	0
IKBKB	3551	broad.mit.edu	37	8	42147757	42147757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:42147757C>T	ENST00000520810.1	+	4	470	c.284C>T	c.(283-285)gCc>gTc	p.A95V	IKBKB_ENST00000416505.2_Missense_Mutation_p.A36V|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.A93V|IKBKB_ENST00000519735.1_Missense_Mutation_p.A95V|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	95	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CCCCTGCTGGCCATGGAGTAC	0.632000													11	10					0	0	6.40141e-05	0	0
COASY	80347	broad.mit.edu	37	17	40716772	40716772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:40716772G>A	ENST00000393818.2	+	4	1549	c.1093G>A	c.(1093-1095)Ggc>Agc	p.G365S	COASY_ENST00000420359.1_Missense_Mutation_p.G365S|COASY_ENST00000449624.1_Missense_Mutation_p.G70S|COASY_ENST00000421097.2_Missense_Mutation_p.G365S|COASY_ENST00000590958.1_Missense_Mutation_p.G394S	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	365	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGGGCTGACTGGCATCAGTGG	0.582000													63	75					0	0	0.000781405	0	0
SPRY3	10251	broad.mit.edu	37	X	155004021	155004021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:155004021C>T	ENST00000302805.2	+	2	919	c.488C>T	c.(487-489)cCt>cTt	p.P163L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	163	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCAGCTCGCCCTCTCCCCTCC	0.592000													54	6					0	0	0.000781405	0	0
PIGZ	80235	broad.mit.edu	37	3	196674066	196674066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:196674066G>A	ENST00000412723.1	-	3	1848	c.1702C>T	c.(1702-1704)Ctc>Ttc	p.L568F		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	568					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TGAAGACTGAGGTGGTCCCTC	0.542000													40	47					0	0	0.000680045	0	0
ZNF274	10782	broad.mit.edu	37	19	58718355	58718355	+	Silent	SNP	C	C	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:58718355C>A	ENST00000326804.4	+	5	984	c.525C>A	c.(523-525)ccC>ccA	p.P175P	ZNF274_ENST00000345813.3_Silent_p.P143P|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Silent_p.P70P	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	175	SCAN box.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TGACAGGTCCCCGGGAGCCCT	0.632000													7	1					5.18039e-06	6.5675e-05	0.000157383	1	0
SLC5A5	6528	broad.mit.edu	37	19	17994489	17994489	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:17994489G>A	ENST00000222248.3	+	11	1589		c.e11-1			NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5						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						TACTCTCCCAGGGCTCCTTCA	0.642000													35	25					0	0	0.000509022	0	0
TXNRD2	10587	broad.mit.edu	37	22	19898968	19898968	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:19898968G>A	ENST00000535882.1	-	8	590	c.591C>T	c.(589-591)atC>atT	p.I197I	TXNRD2_ENST00000400518.1_Silent_p.I168I|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400519.1_Silent_p.I197I|TXNRD2_ENST00000542719.1_Silent_p.I168I|TXNRD2_ENST00000400525.1_Silent_p.I175I|TXNRD2_ENST00000400521.1_Silent_p.I198I|TXNRD2_ENST00000334363.9_Silent_p.I198I			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	198					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					AGGCACCTTCGATCTGTCAAG	0.507000													21	23					0	0	0.000375601	0	0
ZNF319	57567	broad.mit.edu	37	16	58031190	58031190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:58031190G>A	ENST00000299237.2	-	2	1602	c.980C>T	c.(979-981)cCc>cTc	p.P327L		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CAGGTCCGAGGGCCGCTTGAA	0.662000													12	18					0	0	0.00010058	0	0
ZFHX3	463	broad.mit.edu	37	16	72831252	72831252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:72831252G>A	ENST00000268489.5	-	9	6001	c.5329C>T	c.(5329-5331)Ctt>Ttt	p.L1777F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L863F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1777					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)				AAGTGAGGAAGGAGGGTGGGG	0.572000													37	48					0	0	0.000270559	0	0
NOS3	4846	broad.mit.edu	37	7	150695478	150695478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:150695478G>A	ENST00000297494.3	+	6	973	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	NOS3_ENST00000467517.1_Missense_Mutation_p.E206K|NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000484524.1_Missense_Mutation_p.E206K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	206	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GTCTGCACAGGAAATGTTCAC	0.617000													24	0					0	0	0.000147802	0	0
ABCF3	55324	broad.mit.edu	37	3	183908988	183908988	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:183908988A>G	ENST00000429586.2	+	16	1699	c.1514A>G	c.(1513-1515)cAc>cGc	p.H505R	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.H499R	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	505	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATCCGAAGCACGTCATCTTC	0.542000													76	74					0	0	0.000781405	0	0
RNF214	257160	broad.mit.edu	37	11	117109672	117109672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:117109672C>T	ENST00000531452.1	+	3	509	c.463C>T	c.(463-465)Cca>Tca	p.P155S	RNF214_ENST00000531287.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.P155S|RNF214_ENST00000530849.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	155							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AGAGAAATCCCCACAAACCTC	0.522000													30	1					0	0	0.000339439	0	0
C5orf22	55322	broad.mit.edu	37	5	31538428	31538428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:31538428G>A	ENST00000325366.9	+	4	566	c.439G>A	c.(439-441)Gag>Aag	p.E147K	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	147										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AGACCAGCTAGAGAACCAAAA	0.358000													61	2					0	0	0.000781405	0	0
PADI3	51702	broad.mit.edu	37	1	17603320	17603320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:17603320G>A	ENST00000375460.3	+	13	1544	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	502					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCTCTTCCAGGAAAAGCAGAA	0.637000													17	6					0	0	0.00074312	0	0
CCDC78	124093	broad.mit.edu	37	16	775578	775578	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:775578G>A	ENST00000293889.6	-	4	375	c.270C>T	c.(268-270)atC>atT	p.I90I		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	90										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CCAGCCGAAGGATCTGTGGGA	0.672000													16	15					0	0	0.000566183	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366122	7366122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:7366122G>A	ENST00000311403.4	-	4	2518	c.2179C>T	c.(2179-2181)Cga>Tga	p.R727*	ZBTB4_ENST00000380599.4_Nonsense_Mutation_p.R727*	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TCCCCGCATCGGTGCCTCCGC	0.701000													29	26					0	0	0.000339439	0	0
LBP	3929	broad.mit.edu	37	20	36993260	36993260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:36993260C>T	ENST00000217407.2	+	8	936	c.775C>T	c.(775-777)Cca>Tca	p.P259S		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	259					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CCACCGTTCTCCAGTTACCCT	0.502000													78	79					0	0	0.000781405	0	0
TSSC2	650368	broad.mit.edu	37	11	3426137	3426137	+	RNA	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:3426137C>T	ENST00000529482.1	+	0	845																											GAAGCATTTCCAGCACATCCA	0.607000													19	32					0	0	0.000295444	0	0
LILRA4	23547	broad.mit.edu	37	19	54849894	54849894	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:54849894T>C	ENST00000291759.4	-	3	184	c.128A>G	c.(127-129)aAc>aGc	p.N43S		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	43	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGTCACGGGGTTATGCCAGGT	0.542000											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	45	2					0	0	0.000781405	0	0
CSK	1445	broad.mit.edu	37	15	75091219	75091219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:75091219C>T	ENST00000220003.9	+	4	911	c.182C>T	c.(181-183)cCa>cTa	p.P61L	CSK_ENST00000567571.1_Missense_Mutation_p.P61L|CSK_ENST00000439220.2_Missense_Mutation_p.P61L|CSK_ENST00000309470.9_Missense_Mutation_p.P61L	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	61	Interaction with PTPN8 (By similarity).|SH3.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GGCATCATCCCAGCCAACTAC	0.632000													20	22					0	0	0.000586117	0	0
MASP2	10747	broad.mit.edu	37	1	11102948	11102948	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:11102948G>A	ENST00000400897.3	-	6	888	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	291	CUB 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCGTGTAGTGGATCTTCCAGC	0.532000													61	31					0	0	0.000781405	0	0
BTBD16	118663	broad.mit.edu	37	10	124036318	124036318	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:124036318C>T	ENST00000368994.2	+	3	285	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	BTBD16_ENST00000260723.4_Silent_p.L11L			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	11										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CAAAGCTCGGCTGGAACGCCG	0.473000													18	36					0	0	0.000229342	0	0
CLCN3	1182	broad.mit.edu	37	4	170618536	170618536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:170618536C>T	ENST00000513761.1	+	9	1773	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V	CLCN3_ENST00000347613.4_Missense_Mutation_p.A405V|CLCN3_ENST00000360642.3_Missense_Mutation_p.A378V|CLCN3_ENST00000504131.2_Missense_Mutation_p.A388V	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	405					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CTTTGGGGAGCCTTTTTCATT	0.433000													39	85					0	0	0.000437636	0	0
ATXN2	6311	broad.mit.edu	37	12	111893892	111893892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:111893892G>A	ENST00000377617.3	-	23	3846	c.3685C>T	c.(3685-3687)Cat>Tat	p.H1229Y	ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Missense_Mutation_p.H922Y|ATXN2_ENST00000542287.2_Missense_Mutation_p.H964Y|ATXN2_ENST00000389153.4_Missense_Mutation_p.H966Y	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1229					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGAGAAGGATGGATCGTAAAG	0.557000													125	55					0	0	0.000781405	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383128	41383128	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:41383128C>T	ENST00000301146.4	-	7	1669	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.K325K	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	376						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACTTGGTGTCCTTTTTAACCC	0.542000													48	1					0	0	0.000781405	0	0
OR6F1	343169	broad.mit.edu	37	1	247875758	247875758	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:247875758C>T	ENST00000302084.2	-	1	347	c.300G>A	c.(298-300)caG>caA	p.Q100Q	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAAAGTACATCTGCAAAAGAC	0.488000													23	47					0	0	0.000586117	0	0
GSDMA	284110	broad.mit.edu	37	17	38131159	38131159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:38131159G>A	ENST00000301659.4	+	10	1031	c.913G>A	c.(913-915)Ggg>Agg	p.G305R		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	305					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ACAGCTTGAAGGGGCTCTAGA	0.542000													15	18					0	0	0.000308642	0	0
TLR3	7098	broad.mit.edu	37	4	187004117	187004117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:187004117C>T	ENST00000296795.2	+	4	1381	c.1277C>T	c.(1276-1278)gCt>gTt	p.A426V	TLR3_ENST00000504367.1_Missense_Mutation_p.A149V	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	426					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GAGAGTGATGCTTTCTCTTGG	0.398000													46	29					0	0	0.000509022	0	0
SNHG14	104472715	broad.mit.edu	37	15	25351692	25351692	+	RNA	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:25351692G>A	ENST00000546682.1	+	0	3911				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-29_ENST00000384516.1_RNA	NR_003361.1																						TTAAAAAAATGGAAACCTTGG	0.478000													20	14					0	0	0.000720815	0	0
CPSF2	53981	broad.mit.edu	37	14	92609402	92609402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:92609402C>T	ENST00000298875.4	+	9	1189	c.904C>T	c.(904-906)Ccg>Tcg	p.P302S		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	302					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AAGAAATAATCCGTTTCAGTT	0.393000													40	45					0	0	0.000191422	0	0
JAM3	83700	broad.mit.edu	37	11	134014821	134014821	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:134014821A>T	ENST00000299106.4	+	5	703	c.544A>T	c.(544-546)Acg>Tcg	p.T182S	JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Missense_Mutation_p.T227S|JAM3_ENST00000441717.3_Missense_Mutation_p.T131S			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	182	Ig-like C2-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		ACCACTGCCCACGGATTCCAG	0.517000													24	1					0	0	0.000720815	0	0
TLR1	7096	broad.mit.edu	37	4	38799846	38799846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:38799846G>A	ENST00000308979.2	-	4	880	c.607C>T	c.(607-609)Cat>Tat	p.H203Y	TLR1_ENST00000502213.2_Missense_Mutation_p.H203Y	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	203					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAAATAAAATGGAATTCTTTG	0.383000													14	23					0	0	0.000308642	0	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:39604026C>T	ENST00000265708.4	-	19	2242	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_ENST00000347580.4_Silent_p.R694R|ADAM2_ENST00000379853.2_Silent_p.R557R|ADAM2_ENST00000521880.1_Silent_p.R650R	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	713					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCATTTTTTCCTTTGGAAAT	0.284000													31	45					0	0	0.000953801	0	0
USH2A	7399	broad.mit.edu	37	1	216246251	216246251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:216246251C>T	ENST00000366943.2	-	29	6223	c.5837G>A	c.(5836-5838)cGa>cAa	p.R1946Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R1946Q|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1946	Fibronectin type-III 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R1946Q(2)		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)		TGTACGTCCTCGACTCCAATC	0.363000										HNSCC(13;0.011)			12	28					0	0	0.000308642	0	0
NPAP1	23742	broad.mit.edu	37	15	24922455	24922455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:24922455G>A	ENST00000329468.2	+	1	1915	c.1441G>A	c.(1441-1443)Gga>Aga	p.G481R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TAATGAGAAAGGAGGCTCTTA	0.498000													82	86					0	0	0.000781405	0	0
COL5A3	50509	broad.mit.edu	37	19	10090695	10090695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:10090695C>T	ENST00000264828.3	-	36	2718	c.2633G>A	c.(2632-2634)gGa>gAa	p.G878E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	878	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCAGGGAATCCTGGAGGGCC	0.607000													10	10					0	0	0.000442599	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87162442	87162442	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:87162442C>T	ENST00000285393.3	+	6	883	c.741C>T	c.(739-741)ctC>ctT	p.L247L	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	247					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TCGGCAAACTCTATCCTGAGG	0.488000													45	19					0	0	0.000781405	0	0
C16orf78	123970	broad.mit.edu	37	16	49433070	49433070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:49433070C>T	ENST00000299191.3	+	5	796	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	227								p.R227W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGAGAACATTCGGACCTTGCT	0.453000													39	40					0	0	0.000319135	0	0
GPS2	2874	broad.mit.edu	37	17	7222489	7222489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:7222489G>A	ENST00000575474.1	-	1	4	c.5C>T	c.(4-6)cCc>cTc	p.P2L	NEURL4_ENST00000570460.1_Silent_p.S1164S|NEURL4_ENST00000315614.7_Silent_p.S1186S|NEURL4_ENST00000399464.2_Silent_p.S1188S																							CCAGGACAAGGGAAGATGTCC	0.602000													22	35					0	0	0.00047179	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672495	108672495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:108672495C>T	ENST00000261047.3	-	1	247	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	GUCA1C_ENST00000393963.3_Missense_Mutation_p.E39K|GUCA1C_ENST00000471108.1_Missense_Mutation_p.E39K	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	39	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GTCTTAAATTCATGTAGTGTT	0.388000													29	38					0	0	0.000409698	0	0
TENM3	55714	broad.mit.edu	37	4	183594347	183594347	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:183594347A>G	ENST00000511685.1	+	7	1424	c.1301A>G	c.(1300-1302)aAa>aGa	p.K434R	TENM3_ENST00000406950.2_Missense_Mutation_p.K434R					teneurin transmembrane protein 3																		TATGGCCGGAAAGGCTTACCG	0.383000													23	43					0	0	0.000147802	0	0
ATP13A4	84239	broad.mit.edu	37	3	193120490	193120490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:193120490C>T	ENST00000342695.4	-	30	3864	c.3542G>A	c.(3541-3543)gGa>gAa	p.G1181E	ATP13A4_ENST00000400270.2_Missense_Mutation_p.G197E|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.G1162E	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1181					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GTAAGACACTCCTCTGCCACA	0.463000													17	19					0	0	0.000958276	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874587	24874587	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:24874587G>T	ENST00000396432.2	-	26	5117	c.4631C>A	c.(4630-4632)tCt>tAt	p.S1544Y		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1543					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GCCAGAGTCAGAGCCTGTCTC	0.517000													24	24					2.39556e-15	3.06579e-14	0.000375601	1	0
C10orf71	118461	broad.mit.edu	37	10	50531317	50531317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:50531317G>A	ENST00000374144.3	+	3	1015	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	C10orf71_ENST00000323868.4_Missense_Mutation_p.A243T			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	243										endometrium(1)	1						CAATGACACGGCCACCTTATG	0.562000													5	6					0	0	3.59834e-05	0	0
CA10	56934	broad.mit.edu	37	17	50149694	50149694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:50149694C>T	ENST00000451037.2	-	2	1061	c.121G>A	c.(121-123)Gga>Aga	p.G41R	CA10_ENST00000340813.6_Missense_Mutation_p.G47R|CA10_ENST00000285273.4_Missense_Mutation_p.G41R|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.G41R	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	41					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ACAAAGCTTCCCTGGACCACC	0.353000													23	35					0	0	0.000147802	0	0
CUX2	23316	broad.mit.edu	37	12	111772438	111772438	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:111772438C>T	ENST00000261726.6	+	19	3274	c.3120C>T	c.(3118-3120)atC>atT	p.I1040I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1040						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCAGGAGATCGTGGCCATGT	0.617000													5	12					0	0	3.59834e-05	0	0
ESPNP	284729	broad.mit.edu	37	1	17029238	17029238	+	RNA	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:17029238C>T	ENST00000492551.1	-	0	1127					NR_026567.1																						GGAGTTTGTTCTTGGTCTGCA	0.647000													7	81					0	0	0.000157383	0	0
OR6C4	341418	broad.mit.edu	37	12	55945204	55945204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:55945204C>T	ENST00000394256.2	+	1	222	c.194C>T	c.(193-195)tCc>tTc	p.S65F	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S65F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CGGAATTTCTCCTTCTTAGAA	0.428000													6	18					0	0	8.12818e-05	0	0
OR2B6	26212	broad.mit.edu	37	6	27925100	27925100	+	Missense_Mutation	SNP	C	C	T	rs139328462		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:27925100C>T	ENST00000244623.1	+	1	82	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTTTCCACTCCTTGTGGTCTT	0.418000													35	38					0	0	0.000814825	0	0
EFCAB6	64800	broad.mit.edu	37	22	43986064	43986064	+	Silent	SNP	G	G	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:43986064G>T	ENST00000262726.7	-	24	3175	c.2922C>A	c.(2920-2922)acC>acA	p.T974T	EFCAB6_ENST00000396231.2_Silent_p.T822T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	974	EF-hand 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GATCAGTTTTGGTGAATGCTT	0.423000													6	78					0.000157383	0.00198283	0.000157383	1	0
ASGR2	433	broad.mit.edu	37	17	7010400	7010400	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:7010400G>A	ENST00000380952.2	-	7	846	c.582C>T	c.(580-582)tcC>tcT	p.S194S	ASGR2_ENST00000254850.7_Silent_p.S170S|ASGR2_ENST00000355035.5_Silent_p.S194S|ASGR2_ENST00000446679.2_Silent_p.S175S	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	194	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGGCCTTCCCGGAGTGAGAGA	0.632000													31	43					0	0	0.000953801	0	0
ETV2	2116	broad.mit.edu	37	19	36133948	36133948	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:36133948G>A	ENST00000379026.2	+	3	758		c.e3+1		ETV2_ENST00000402764.2_Splice_Site|ETV2_ENST00000479824.1_Splice_Site|ETV2_ENST00000403402.1_Splice_Site|ETV2_ENST00000379023.4_Intron			B9EIN1	B9EIN1_HUMAN	ets variant 2								sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)	2	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)			TGGGGGGCGGGTGAGTGTGGG	0.627000													5	0					0	0	8.12818e-05	0	0
TPSD1	23430	broad.mit.edu	37	16	1306606	1306606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:1306606C>T	ENST00000211076.3	+	2	320	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	TPSD1_ENST00000397534.2_Missense_Mutation_p.R51C	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	58	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CCTGAGAGTCCGCGGCCCATA	0.692000													37	44					0	0	0.000319135	0	0
MSLNL	401827	broad.mit.edu	37	16	824857	824857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:824857G>A	ENST00000293892.3	-	7	1714	c.1715C>T	c.(1714-1716)gCc>gTc	p.A572V	MSLNL_ENST00000442466.1_Missense_Mutation_p.A221V			Q96KJ4	MSLNL_HUMAN	mesothelin-like	221					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTTCCCACCGGCCAGCAGTGA	0.711000													10	12					0	0	0.000442599	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377203	18377203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:18377203G>A	ENST00000392413.3	-	3	1362	c.1147C>T	c.(1147-1149)Ccg>Tcg	p.P383S	KIAA1683_ENST00000600359.2_Missense_Mutation_p.P337S|KIAA1683_ENST00000600328.2_Missense_Mutation_p.P383S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	383	Thr-rich.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTGGGCCCCGGATACATCTGG	0.572000													53	42					0	0	0.000781405	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754765	94754765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:94754765G>A	ENST00000554723.1	-	3	1388	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	SERPINA10_ENST00000261994.4_Missense_Mutation_p.R284C|SERPINA10_ENST00000393096.1_Missense_Mutation_p.R284C|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R284C			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	284					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R284C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ACATGACAACGAAAATTCTTG	0.507000													22	24					0	0	0.000375601	0	0
MGAT4B	11282	broad.mit.edu	37	5	179228606	179228606	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:179228606G>A	ENST00000337755.5	-	2	1303	c.417C>T	c.(415-417)gcC>gcT	p.A139A	MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Silent_p.A124A	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	124					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTCTCCTTGGCCAGCAGGT	0.711000													17	5					0	0	0.000566183	0	0
ADK	132	broad.mit.edu	37	10	76074471	76074471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:76074471G>A	ENST00000372734.3	+	4	377	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	ADK_ENST00000541550.1_Missense_Mutation_p.G46S|ADK_ENST00000286621.2_Missense_Mutation_p.G81S|ADK_ENST00000539909.1_Missense_Mutation_p.G81S	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	81					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	TCATGCTGGTGGCTCTACCCA	0.323000													7	7					0	0	0.000157383	0	0
NKD2	85409	broad.mit.edu	37	5	1032326	1032326	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:1032326G>A	ENST00000296849.5	+	4	430	c.202_splice	c.e4+1	p.Q67_splice	NKD2_ENST00000274150.4_Splice_Site_p.Q67_splice|NKD2_ENST00000537972.1_Splice_Site_p.Q67_splice	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	67	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GTCCCCTACAGGGTGAGTGCA	0.617000													18	44					0	0	0.000566183	0	0
FAT3	120114	broad.mit.edu	37	11	92531727	92531727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:92531727C>T	ENST00000298047.6	+	9	5565	c.5548C>T	c.(5548-5550)Cat>Tat	p.H1850Y	FAT3_ENST00000409404.2_Missense_Mutation_p.H1850Y|FAT3_ENST00000525166.1_Missense_Mutation_p.H1700Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1850	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTCCATTTTCATGTGCATGT	0.463000										TCGA Ovarian(4;0.039)			65	8					0	0	0.000781405	0	0
STAB2	55576	broad.mit.edu	37	12	104131519	104131519	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:104131519G>A	ENST00000388887.2	+	53	5862	c.5658G>A	c.(5656-5658)ctG>ctA	p.L1886L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1886					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATCCCACCCTGGGGGGCCGCT	0.507000													21	11					0	0	0.00047179	0	0
MECOM	2122	broad.mit.edu	37	3	168810878	168810878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:168810878G>A	ENST00000464456.1	-	12	3641	c.2441C>T	c.(2440-2442)tCg>tTg	p.S814L	MECOM_ENST00000433243.2_Missense_Mutation_p.S824L|MECOM_ENST00000494292.1_Missense_Mutation_p.S1002L|MECOM_ENST00000460814.1_Missense_Mutation_p.S814L|MECOM_ENST00000264674.3_Missense_Mutation_p.S888L|MECOM_ENST00000392736.3_Missense_Mutation_p.S823L|MECOM_ENST00000472280.1_Missense_Mutation_p.S824L|MECOM_ENST00000468789.1_Missense_Mutation_p.S823L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATGAGGCGACGATGTTGCTGT	0.388000													7	20					0	0	0.000274275	0	0
LRIF1	55791	broad.mit.edu	37	1	111493993	111493993	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:111493993G>A	ENST00000369763.4	-	2	1903	c.1513C>T	c.(1513-1515)Cag>Tag	p.Q505*	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TCTATGCTCTGGAGGACACTT	0.393000													35	68					0	0	0.000953801	0	0
STAB2	55576	broad.mit.edu	37	12	104086619	104086619	+	Silent	SNP	C	C	T	rs146582962	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:104086619C>T	ENST00000388887.2	+	31	3531	c.3327C>T	c.(3325-3327)gtC>gtT	p.V1109V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1109	FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTCCATTGTCGATGGGGACA	0.458000													20	11					0	0	0.000720815	0	0
MYH1	4619	broad.mit.edu	37	17	10419889	10419889	+	Missense_Mutation	SNP	C	C	T	rs61730792	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:10419889C>T	ENST00000226207.5	-	3	165	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	24	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R24Q(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						GGCTTCAATTCGCTCCCTTTC	0.507000													17	24					0	0	0.000566183	0	0
MYH3	4621	broad.mit.edu	37	17	10538846	10538846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:10538846G>A	ENST00000583535.1	-	30	4097	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	MYH3_ENST00000226209.7_Missense_Mutation_p.S1337F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1337					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GTCGTGGCGGGAGGACTGCAG	0.557000													59	72					0	0	0.000781405	0	0
AKAP6	9472	broad.mit.edu	37	14	33293340	33293340	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:33293340G>A	ENST00000280979.4	+	13	6491	c.6321G>A	c.(6319-6321)ggG>ggA	p.G2107G	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2107					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGAGAAAAGGGGACTTTTATT	0.448000													17	13					0	0	0.000422831	0	0
LCT	3938	broad.mit.edu	37	2	136570041	136570041	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:136570041C>T	ENST00000264162.2	-	7	2203	c.2193G>A	c.(2191-2193)ggG>ggA	p.G731G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	731	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)		GCCTCCTTATCCCCCAGGGCA	0.512000													68	7					0	0	0.000781405	0	0
HPS5	11234	broad.mit.edu	37	11	18303523	18303523	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:18303523G>A	ENST00000396253.3	-	21	3423	c.2961C>T	c.(2959-2961)atC>atT	p.I987I	HPS5_ENST00000438420.2_Silent_p.I987I|HPS5_ENST00000537258.1_Silent_p.I208I|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Silent_p.I1101I	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1101						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAATCCTCAGGATATCGCAGG	0.493000									Hermansky-Pudlak syndrome				49	75					0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				34	1					0	0	0.000228196	0	0
CNGB1	1258	broad.mit.edu	37	16	57921948	57921948	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:57921948C>A	ENST00000564448.1	-	32	3315	c.3255G>T	c.(3253-3255)aaG>aaT	p.K1085N	CNGB1_ENST00000251102.8_Missense_Mutation_p.K1091N			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1091					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCTTCTCCTCCTTGGGCTTAT	0.567000													29	33					3.1745e-13	4.04986e-12	0.000227799	1	0
CA9	768	broad.mit.edu	37	9	35674098	35674098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:35674098C>T	ENST00000378357.4	+	1	246	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	48	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGATTCCCCCTTGGGAGG	0.632000													8	7					0	0	0.000274275	0	0
OR4C6	219432	broad.mit.edu	37	11	55433174	55433174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:55433174G>A	ENST00000314259.3	+	1	561	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTTTATATGTGATTTGTTTCA	0.448000													12	7					0	0	0.000219431	0	0
TTN	7273	broad.mit.edu	37	2	179593492	179593492	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:179593492G>A	ENST00000589042.1	-	66	19385	c.19161C>T	c.(19159-19161)atC>atT	p.I6387I	TTN_ENST00000591111.1_Silent_p.I6070I|TTN_ENST00000342992.6_Silent_p.I5143I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6070	Ig-like 45.						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)			CTTTCTCTACGATTTGAGCTG	0.383000													16	3					0	0	0.000132079	0	0
PAX5	5079	broad.mit.edu	37	9	36882068	36882068	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:36882068G>A	ENST00000358127.4	-	8	1019	c.945C>T	c.(943-945)taC>taT	p.Y315Y	PAX5_ENST00000377853.2_Silent_p.Y315Y|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000414447.1_Silent_p.Y272Y|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000520281.1_Silent_p.Y272Y|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000522003.1_Silent_p.Y207Y|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000446742.1_Intron	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	315					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CGTGTGGAGGGTACCCGGGGA	0.632000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								6	18					0	0	0.000274275	0	0
HINFP	25988	broad.mit.edu	37	11	119003888	119003888	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:119003888G>A	ENST00000350777.2	+	9	1161	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K	HINFP_ENST00000527410.1_Silent_p.K366K	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	366					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACCTTCGCAAGAAGCACCAGT	0.502000													61	6					0	0	0.000781405	0	0
LY75	4065	broad.mit.edu	37	2	160672014	160672014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:160672014G>A	ENST00000263636.4	-	31	4478	c.4451C>T	c.(4450-4452)tCt>tTt	p.S1484F	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S1484F|LY75_ENST00000553424.1_Missense_Mutation_p.S1484F|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S1484F|LY75_ENST00000554112.1_Missense_Mutation_p.S1484F	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATTTCCAGGAGATGTTTGGCC	0.363000													71	4					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9085008	9085008	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:9085008C>T	ENST00000397910.4	-	1	7010	c.6807G>A	c.(6805-6807)aaG>aaA	p.K2269K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2269	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						AATGAGTTGTCTTTTCTGGGA	0.433000													10	8					0	0	0.000673444	0	0
OR12D3	81797	broad.mit.edu	37	6	29342555	29342555	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:29342555C>T	ENST00000396806.3	-	1	513	c.510G>A	c.(508-510)caG>caA	p.Q170Q	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GATTGAGTTTCTGAGAGCCAC	0.468000													34	24					0	0	0.000692331	0	0
SVIL	6840	broad.mit.edu	37	10	29776190	29776190	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:29776190C>G	ENST00000375398.2	-	26	4836	c.4387G>C	c.(4387-4389)Gct>Cct	p.A1463P	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.A377P|SVIL_ENST00000375400.3_Missense_Mutation_p.A1037P|SVIL_ENST00000355867.4_Missense_Mutation_p.A1463P|SVIL_ENST00000538146.1_Missense_Mutation_p.A255P			O95425	SVIL_HUMAN	supervillin	1463	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGCGCCGAAGCTCGAGGTTCC	0.562000													3	8					0	0	6.4e-05	0	0
DDX60	55601	broad.mit.edu	37	4	169201585	169201585	+	Silent	SNP	A	A	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:169201585A>G	ENST00000393743.3	-	14	2170	c.1879T>C	c.(1879-1881)Ttg>Ctg	p.L627L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	627							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CAGGATTTCAAAAAATCTTCC	0.378000													55	29					0	0	0.000781405	0	0
KIAA1199	57214	broad.mit.edu	37	15	81201497	81201497	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:81201497G>A	ENST00000394685.3	+	14	2066	c.1647G>A	c.(1645-1647)caG>caA	p.Q549Q	RP11-351M8.2_ENST00000560873.1_RNA|RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000356249.5_Silent_p.Q549Q|KIAA1199_ENST00000220244.3_Silent_p.Q549Q			Q8WUJ3	K1199_HUMAN	KIAA1199	549										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATATGGGACAGCAGCTGGTGG	0.557000													30	25					0	0	0.000409698	0	0
NLRP14	338323	broad.mit.edu	37	11	7083677	7083677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:7083677G>A	ENST00000299481.4	+	10	3264	c.2918G>A	c.(2917-2919)gGa>gAa	p.G973E		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	973					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAGGATGATGGAGTGAAAATT	0.418000													7	10					0	0	8.12818e-05	0	0
CDH7	1005	broad.mit.edu	37	18	63477014	63477014	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:63477014C>T	ENST00000536984.2	+	3	979	c.285C>T	c.(283-285)ttC>ttT	p.F95F	CDH7_ENST00000397968.2_Silent_p.F95F|CDH7_ENST00000323011.3_Silent_p.F95F			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	95	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTTCCATTTTCATTATTGATG	0.468000													8	6					0	0	0.000157383	0	0
SCN10A	6336	broad.mit.edu	37	3	38798606	38798606	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:38798606G>T	ENST00000449082.2	-	8	994	c.995C>A	c.(994-996)cCg>cAg	p.P332Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	332					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTTAAAATCCGGGTTGTCAGA	0.502000													25	22					4.87955e-14	6.2349e-13	0.000878237	1	0
WDR49	151790	broad.mit.edu	37	3	167240235	167240235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:167240235G>A	ENST00000308378.3	-	12	1891	c.1586C>T	c.(1585-1587)cCt>cTt	p.P529L	WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.P354L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	529										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATCTCTTTTAGGAAGGAAAAG	0.303000													7	15					0	0	8.12818e-05	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442831	20442831	+	Silent	SNP	C	C	G	rs150798636	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:20442831C>G	ENST00000375105.3	-	2	238	c.180G>C	c.(178-180)acG>acC	p.T60T		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	60					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTACCAGTCCGTGGCATCTT	0.522000										Multiple Myeloma(11;0.12)			23	13					0	0	0.000878237	0	0
OR52M1	119772	broad.mit.edu	37	11	4566853	4566853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:4566853C>T	ENST00000360213.1	+	1	433	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R145G(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTGGTGGGTCGTTTGGGGCT	0.522000													7	21					0	0	0.000157383	0	0
HTR1B	3351	broad.mit.edu	37	6	78172887	78172887	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:78172887C>T	ENST00000369947.2	-	1	603	c.234G>A	c.(232-234)cgG>cgA	p.R78R		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	78					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	TGTGCAGTTTCCGGGTCCGGT	0.567000													80	4					0	0	0.000781405	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580950	40580950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:40580950G>A	ENST00000450241.2	-	6	1608	c.1297C>T	c.(1297-1299)Cat>Tat	p.H433Y	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.H467Y|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.H468Y|ZNF780A_ENST00000594395.1_Missense_Mutation_p.H468Y|ZNF780A_ENST00000595687.2_Missense_Mutation_p.H467Y			O75290	Z780A_HUMAN	zinc finger protein 780A	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACCAGTATGAATTCGAGAA	0.413000													37	4					0	0	0.000814825	0	0
SLC35D3	340146	broad.mit.edu	37	6	137243837	137243837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:137243837C>T	ENST00000331858.4	+	1	436	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	91					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GCAGTCCAGCCTCACGCTCTG	0.701000													5	1					0	0	3.59834e-05	0	0
C1orf27	54953	broad.mit.edu	37	1	186348920	186348920	+	Translation_Start_Site	SNP	G	G	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:186348920G>T	ENST00000367470.3	+	2	239	c.3G>T	c.(1-3)atG>atT	p.M1I	C1orf27_ENST00000432021.3_Start_Codon_SNP_p.M1I|C1orf27_ENST00000419367.3_Start_Codon_SNP_p.M1I|C1orf27_ENST00000287859.6_Start_Codon_SNP_p.M1I	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	1						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TCCTAAAAATGGGAAGAACCT	0.348000													9	321					0.000442599	0.00555891	0.000442599	1	0
SIN3B	23309	broad.mit.edu	37	19	16942413	16942413	+	Silent	SNP	T	T	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:16942413T>C	ENST00000379803.1	+	3	350	c.336T>C	c.(334-336)atT>atC	p.I112I	SIN3B_ENST00000248054.5_Silent_p.I112I|SIN3B_ENST00000596802.1_Silent_p.I112I	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	112					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAATAGACATTCCCAAGAATG	0.498000													42	75					0	0	0.000374591	0	0
SYT13	57586	broad.mit.edu	37	11	45267998	45267998	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:45267998G>A	ENST00000020926.3	-	5	1023	c.912C>T	c.(910-912)ctC>ctT	p.L304L		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	304	C2 2.					transport vesicle		p.L304L(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCACCACCAGGAGGCGGTTGG	0.577000													22	35					0	0	0.000720815	0	0
BSN	8927	broad.mit.edu	37	3	49688293	49688293	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:49688293G>A	ENST00000296452.4	+	4	1881	c.1767G>A	c.(1765-1767)caG>caA	p.Q589Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	589	3 X 7 AA tandem repeats of K-A-S-P-[LQ]- [APS]-[KST].				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCAGCCCCCAGGCCAAGCCCC	0.657000													48	39					0	0	0.000781405	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443967	61443967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:61443967C>T	ENST00000395348.3	-	2	719	c.83G>A	c.(82-84)gGa>gAa	p.G28E	SLC16A9_ENST00000395347.1_Missense_Mutation_p.G28E|SLC16A9_ENST00000490066.1_5'UTR	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	28					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TAGTGGGGATCCGTAACACAA	0.473000													24	31					0	0	0.000586117	0	0
AHSA1	10598	broad.mit.edu	37	14	77929095	77929095	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:77929095C>T	ENST00000216479.3	+	4	625	c.465C>T	c.(463-465)ctC>ctT	p.L155L	AHSA1_ENST00000535854.2_Silent_p.L155L|AHSA1_ENST00000555457.1_Intron	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	155					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCAGCACCCTCAAAACAGGTA	0.458000													29	32					0	0	0.000339439	0	0
LTBP2	4053	broad.mit.edu	37	14	74970718	74970718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:74970718G>A	ENST00000261978.4	-	31	4879	c.4493C>T	c.(4492-4494)cCg>cTg	p.P1498L	LTBP2_ENST00000556690.1_Missense_Mutation_p.P1454L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1498	EGF-like 17; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCGGCCGTTCGGGCAGAGACC	0.572000													19	12					0	0	0.000175454	0	0
TUBB8	347688	broad.mit.edu	37	10	93605	93605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:93605G>A	ENST00000447903.2	-	4	826	c.511C>T	c.(511-513)Ccg>Tcg	p.P171S	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.P243S			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	243					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		AGCTGGCCCGGGAAGCGCAGG	0.602000													4	8					0	0	0.000602214	0	0
MXRA5	25878	broad.mit.edu	37	X	3229292	3229292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:3229292C>T	ENST00000217939.6	-	7	7106	c.6952G>A	c.(6952-6954)Gag>Aag	p.E2318K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2318	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCCTTCCTCCCTCATCCCC	0.542000													63	1					0	0	0.000781405	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95599991	95599991	+	RNA	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:95599991G>A	ENST00000473204.1	+	0	2072																											CAGGGAGGAGGAATCGGCGGA	0.428000													16	8					0	0	0.000308642	0	0
TMEM184A	202915	broad.mit.edu	37	7	1586603	1586603	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:1586603G>A	ENST00000297477.5	-	9	1543	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	409						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGTCCTCCGAGGGGATCAGCA	0.721000													4	10					0	0	0.00024832	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884732	24884732	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:24884732C>T	ENST00000382554.3	+	9	4095	c.3777C>T	c.(3775-3777)tcC>tcT	p.S1259S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1259					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCCGATGGTCCCTCTTGGTTC	0.662000													23	15					0	0	0.000375601	0	0
OR56A4	120793	broad.mit.edu	37	11	6023564	6023564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:6023564G>A	ENST00000330728.4	-	1	860	c.815C>T	c.(814-816)tCc>tTc	p.S272F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAGAATAGGAGATAACAAT	0.468000													17	16					0	0	0.00074312	0	0
FOXJ1	2302	broad.mit.edu	37	17	74134192	74134192	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:74134192G>C	ENST00000322957.6	-	3	862	c.508C>G	c.(508-510)Cgc>Ggc	p.R170G		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	170					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			AGGTTGTGGCGGATTGAATTC	0.602000													22	35					0	0	0.000878237	0	0
OR7G2	390882	broad.mit.edu	37	19	9213650	9213650	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:9213650C>T	ENST00000305456.2	-	1	332	c.333G>A	c.(331-333)cgG>cgA	p.R111R		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						ACGTGATGCTCCGATTCTGAG	0.478000													39	41					0	0	0.000680045	0	0
SCN9A	6335	broad.mit.edu	37	2	167160613	167160613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:167160613C>T	ENST00000375387.4	-	6	959	c.619G>A	c.(619-621)Gac>Aac	p.D207N	SCN9A_ENST00000409435.1_Intron|SCN9A_ENST00000303354.6_Intron|SCN9A_ENST00000409672.1_Intron			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	206						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTGCCCAGGTCCACAAACTCT	0.438000													35	2					0	0	0.000228196	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs28934573		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:7577559G>A	ENST00000420246.2	-	7	854	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			32	49					0	0	0.000374591	0	0
PNPLA6	10908	broad.mit.edu	37	19	7606272	7606272	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:7606272C>T	ENST00000221249.6	+	11	1271	c.840C>T	c.(838-840)ttC>ttT	p.F280F	PNPLA6_ENST00000600737.1_Silent_p.F319F|PNPLA6_ENST00000545201.2_Silent_p.F280F|PNPLA6_ENST00000414982.3_Silent_p.F328F|PNPLA6_ENST00000450331.3_Silent_p.F280F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	319					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GAGTCACCTTCCTGGCACTGC	0.662000													12	15					0	0	0.00010058	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011105	105011105	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:105011105G>A	ENST00000372582.1	+	11	2268	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	IL1RAPL2_ENST00000344799.4_Silent_p.V504V|IL1RAPL2_ENST00000538500.1_Silent_p.V109V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	504	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						AAATCAAAGTGATTTTGATTG	0.413000													23	1					0	0	0.00047179	0	0
TLE4	7091	broad.mit.edu	37	9	82242321	82242321	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:82242321G>A	ENST00000376520.4	+	6	1176	c.348G>A	c.(346-348)cgG>cgA	p.R116R	TLE4_ENST00000376537.4_Silent_p.R116R|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376544.3_Silent_p.R116R|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Silent_p.R116R			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.R116R(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGTGGAACGGGCCAAGCAGG	0.453000													16	33					0	0	0.000175454	0	0
ANGEL1	23357	broad.mit.edu	37	14	77255594	77255594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:77255594C>T	ENST00000251089.2	-	10	2102	c.1990G>A	c.(1990-1992)Ggg>Agg	p.G664R	ANGEL1_ENST00000557179.1_Missense_Mutation_p.G229R	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	664										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ACTTCCATCCCGAAGCTGGCT	0.562000													64	74					0	0	0.000781405	0	0
OR11H12	440153	broad.mit.edu	37	14	19378043	19378043	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:19378043C>T	ENST00000550708.1	+	1	522	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTAATATCATGACTGGGC	0.458000													16	27					0	0	0.000958276	0	0
GDE1	51573	broad.mit.edu	37	16	19516342	19516342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:19516342C>T	ENST00000353258.3	-	5	889	c.709G>A	c.(709-711)Ggg>Agg	p.G237R		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	237	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						CGTGGTTTCCCATCTCCTGTA	0.398000													64	59					0	0	0.000781405	0	0
KLHL25	64410	broad.mit.edu	37	15	86311557	86311557	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:86311557G>A	ENST00000337975.5	-	2	1759	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Silent_p.F495F	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	495						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTCCCATGATGAAGATCTGGC	0.617000													44	67					0	0	0.000781405	0	0
LRIT3	345193	broad.mit.edu	37	4	110788925	110788925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:110788925G>A	ENST00000327908.3	+	3	933	c.169G>A	c.(169-171)Gga>Aga	p.G57R	LRIT3_ENST00000594814.1_Missense_Mutation_p.G240R|LRIT3_ENST00000379920.3_Missense_Mutation_p.G195R|LRIT3_ENST00000409621.2_Missense_Mutation_p.G57R			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	195						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GCGCCTCACAGGAATTTTGTT	0.458000													15	41					0	0	0.000422831	0	0
SHPK	23729	broad.mit.edu	37	17	3524612	3524612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:3524612G>A	ENST00000225519.3	-	5	844	c.742C>T	c.(742-744)Cca>Tca	p.P248S		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	248					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GTCCCCTTTGGGATTTCAAAC	0.547000													24	24					0	0	0.00047179	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40822654	40822654	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:40822654G>A	ENST00000293349.6	-	10	1912	c.1482C>T	c.(1480-1482)caC>caT	p.H494H	PLEKHH3_ENST00000591022.1_Silent_p.H497H|PLEKHH3_ENST00000412503.1_Silent_p.H494H|PLEKHH3_ENST00000456950.2_5'UTR			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	497	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCAGAGGTCCGTGAAGACGCA	0.637000													18	32					0	0	0.000132079	0	0
NTSR2	23620	broad.mit.edu	37	2	11802193	11802193	+	Silent	SNP	G	G	A	rs17853769		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:11802193G>A	ENST00000306928.5	-	2	832	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	266					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TCTTCCATACGATGAAGCTGA	0.627000													61	8					0	0	0.000781405	0	0
GLYAT	10249	broad.mit.edu	37	11	58477446	58477446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:58477446C>T	ENST00000344743.3	-	6	825	c.684G>A	c.(682-684)atG>atA	p.M228I	GLYAT_ENST00000529732.1_Missense_Mutation_p.M228I	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	228					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTGCCATTCTCATCTCTCCAG	0.552000													7	9					0	0	8.12818e-05	0	0
CCDC59	29080	broad.mit.edu	37	12	82752008	82752008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:82752008G>A	ENST00000256151.7	-	1	559	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	CCDC59_ENST00000548126.1_Intron	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						ATACCCTCGCGAACGCTCCCC	0.507000													10	27					0	0	0.00010058	0	0
XPR1	9213	broad.mit.edu	37	1	180756930	180756930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:180756930G>A	ENST00000367590.4	+	3	361	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	XPR1_ENST00000367589.3_Missense_Mutation_p.E55K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	55	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGCCAAGTTTGAAGAGAAGTT	0.338000													50	43					0	0	0.000781405	0	0
GJB6	10804	broad.mit.edu	37	13	20797560	20797560	+	Silent	SNP	G	G	A	rs151317854	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr13:20797560G>A	ENST00000356192.6	-	5	680	c.60C>T	c.(58-60)atC>atT	p.I20I	GJB6_ENST00000400066.3_Silent_p.I20I|GJB6_ENST00000241124.6_Silent_p.I20I|GJB6_ENST00000400065.3_Silent_p.I20I	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	20					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		ACACCTTCCCGATGCTGGTGG	0.527000													29	53					0	0	0.00058488	0	0
OR10R2	343406	broad.mit.edu	37	1	158450621	158450621	+	Silent	SNP	A	A	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:158450621A>G	ENST00000368152.1	+	1	954	c.954A>G	c.(952-954)caA>caG	p.Q318Q	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	318					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AGGATGTCCAACTTGCTATCA	0.348000													5	28					0	0	8.12818e-05	0	0
EMR1	2015	broad.mit.edu	37	19	6937361	6937361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:6937361C>T	ENST00000312053.4	+	19	2526	c.2489C>T	c.(2488-2490)aCc>aTc	p.T830I	EMR1_ENST00000381407.5_Missense_Mutation_p.T689I|EMR1_ENST00000381404.4_Missense_Mutation_p.T811I|EMR1_ENST00000450315.3_Missense_Mutation_p.T653I|EMR1_ENST00000250572.8_Missense_Mutation_p.T765I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	830					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TACCTGTTCACCATCATCAAC	0.582000													32	43					0	0	0.000814825	0	0
OR5R1	219479	broad.mit.edu	37	11	56185028	56185028	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:56185028C>T	ENST00000312253.1	-	1	680	c.681G>A	c.(679-681)agG>agA	p.R227R		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TAGAGCGGATCCTTAGGATAG	0.438000													24	22					0	0	0.000586117	0	0
CPLX4	339302	broad.mit.edu	37	18	56963965	56963965	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:56963965T>G	ENST00000299721.3	-	3	634	c.448A>C	c.(448-450)Aag>Cag	p.K150Q	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	150					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				GCTGTCTGCTTGATTTCAGTG	0.498000													5	13					0	0	0.000602214	0	0
PTPRB	5787	broad.mit.edu	37	12	70946681	70946681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:70946681G>A	ENST00000334414.6	-	21	5307	c.5263C>T	c.(5263-5265)Cct>Tct	p.P1755S	PTPRB_ENST00000261266.5_Missense_Mutation_p.P1537S|PTPRB_ENST00000550857.1_Missense_Mutation_p.P1447S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P1667S|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1447S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1447S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1537	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGCTGTTAGGATTTTCGGCA	0.468000													27	20					0	0	0.000147802	0	0
PHRF1	57661	broad.mit.edu	37	11	591435	591435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:591435C>T	ENST00000264555.5	+	5	600	c.472C>T	c.(472-474)Cga>Tga	p.R158*	PHRF1_ENST00000416188.2_Nonsense_Mutation_p.R158*|PHRF1_ENST00000413872.2_Nonsense_Mutation_p.R157*|PHRF1_ENST00000533464.1_Nonsense_Mutation_p.R154*	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	158							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CATTTGTATTCGAGCTCAATT	0.458000													10	20					0	0	0.00010058	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766554	27766554	+	Silent	SNP	T	T	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:27766554T>C	ENST00000451261.2	+	5	1941	c.1542T>C	c.(1540-1542)ggT>ggC	p.G514G		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GCAGAGAAGGTACAATAAACT	0.498000													8	0					0	0	0.000274275	0	0
SNHG14	104472715	broad.mit.edu	37	15	25472104	25472104	+	RNA	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:25472104C>T	ENST00000453082.2	+	0	1146					NR_003343.1																						GGCCCACTATCCCTGGGCCAA	0.622000													6	6					0	0	3.59834e-05	0	0
DAGLA	747	broad.mit.edu	37	11	61511196	61511196	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:61511196C>T	ENST00000257215.5	+	20	2480	c.2364C>T	c.(2362-2364)tcC>tcT	p.S788S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	788					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACACTGAGTCCCTGTACAGCT	0.682000													19	26					0	0	0.000175454	0	0
MAP7	9053	broad.mit.edu	37	6	136693711	136693711	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:136693711C>T	ENST00000354570.3	-	8	1214	c.804G>A	c.(802-804)tcG>tcA	p.S268S	MAP7_ENST00000438100.2_Silent_p.S253S|MAP7_ENST00000432797.2_Silent_p.S122S|MAP7_ENST00000454590.1_Silent_p.S290S|MAP7_ENST00000544465.1_Silent_p.S253S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	268					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GTCGATCCATCGAATTTCTAG	0.507000													38	2					0	0	0.000509022	0	0
COL14A1	7373	broad.mit.edu	37	8	121326192	121326192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:121326192G>A	ENST00000297848.3	+	38	4747	c.4477G>A	c.(4477-4479)Gaa>Aaa	p.E1493K	COL14A1_ENST00000247781.3_Missense_Mutation_p.E1398K|COL14A1_ENST00000309791.4_Missense_Mutation_p.E1493K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1493	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCCTCGGGGTGAAATTGGTCT	0.483000													51	146					0	0	0.000781405	0	0
ZNF300	91975	broad.mit.edu	37	5	150282706	150282706	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:150282706G>A	ENST00000427179.1	-	3	238	c.12C>T	c.(10-12)tcC>tcT	p.S4S	ZNF300_ENST00000274599.5_Silent_p.S4S|ZNF300_ENST00000418587.2_Intron|ZNF300_ENST00000446148.2_Silent_p.S20S|ZNF300_ENST00000394226.2_Silent_p.S4S			Q96RE9	ZN300_HUMAN	zinc finger protein 300	4					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)			AACTCACCTGGGACTTCATCA	0.343000													6	40					0	0	0.000157383	0	0
KRT6A	3853	broad.mit.edu	37	12	52886863	52886863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:52886863G>A	ENST00000330722.6	-	1	178	c.110C>T	c.(109-111)tCc>tTc	p.S37F		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	37	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGGACACGGAGACGCTGCT	0.662000													13	53					0	0	0.000219431	0	0
PCSK1	5122	broad.mit.edu	37	5	95729011	95729011	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:95729011C>T	ENST00000311106.3	-	14	2193	c.1956G>A	c.(1954-1956)ggG>ggA	p.G652G	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.G605G|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	652					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCTCCGGCCCCCTACGCTGC	0.557000													4	26					0	0	0.00024832	0	0
MUC17	140453	broad.mit.edu	37	7	100692154	100692154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:100692154G>A	ENST00000306151.4	+	5	12628	c.12564G>A	c.(12562-12564)atG>atA	p.M4188I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4188	SEA.					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)					CTGCCCAAATGGAACTGACTG	0.512000													49	6					0	0	0.000781405	0	0
HEATR5A	25938	broad.mit.edu	37	14	31774132	31774132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:31774132G>A	ENST00000543095.2	-	32	5402	c.5218C>T	c.(5218-5220)Cct>Tct	p.P1740S	HEATR5A_ENST00000439727.1_Missense_Mutation_p.P1447S|HEATR5A_ENST00000439348.1_Missense_Mutation_p.P1734S|HEATR5A_ENST00000389961.3_Missense_Mutation_p.P1734S	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1734							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CACACTGCAGGAAGTTCGGAA	0.418000													19	18					0	0	0.000958276	0	0
SPR	6697	broad.mit.edu	37	2	73115593	73115593	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:73115593T>C	ENST00000234454.5	+	2	528	c.455T>C	c.(454-456)gTg>gCg	p.V152A	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	152					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						AACAGAACCGTGGTTAACATC	0.567000											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	43					0	0	0.00024832	0	0
CELF5	60680	broad.mit.edu	37	19	3275854	3275854	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:3275854G>A	ENST00000541430.2	+	4	431	c.394_splice	c.e4-1	p.R132_splice	CELF5_ENST00000292672.2_Splice_Site_p.R132_splice	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	132					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CCGCCCACAGGGGACCGGAAG	0.682000													23	11					0	0	0.000878237	0	0
CDH10	1008	broad.mit.edu	37	5	24593451	24593451	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:24593451T>C	ENST00000264463.4	-	2	656	c.149A>G	c.(148-150)cAt>cGt	p.H50R	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	50					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTTTGACGATGGAGAATTTT	0.393000										HNSCC(23;0.051)			12	21					0	0	0.000219431	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32833469	32833469	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:32833469G>C	ENST00000420878.3	-	5	1885	c.1430C>G	c.(1429-1431)aCa>aGa	p.T477R	ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.T477R	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	477					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						ATGCCTAAATGTTTTTCTACA	0.428000													10	19					0	0	6.40141e-05	0	0
MIR506	574511	broad.mit.edu	37	X	146312323	146312323	+	RNA	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:146312323G>A	ENST00000384998.1	-	0	38					NR_030233.1																						ACACCTTCCTGAATAAGGCAC	0.423000													20	2					0	0	0.000295444	0	0
DOCK10	55619	broad.mit.edu	37	2	225638013	225638013	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:225638013G>A	ENST00000409592.3	-	53	6160	c.6047C>T	c.(6046-6048)tCg>tTg	p.S2016L	DOCK10_ENST00000258390.7_Missense_Mutation_p.S2022L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2022	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTCTGTGCTCGATTGGCTAAT	0.423000													53	6					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13721244	13721244	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:13721244G>A	ENST00000265104.4	-	71	12248	c.12144C>T	c.(12142-12144)ctC>ctT	p.L4048L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4048	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATAGACAGGAGACAGATGA	0.498000									Kartagener syndrome				27	115					0	0	0.000339439	0	0
PAK7	57144	broad.mit.edu	37	20	9561263	9561263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:9561263C>T	ENST00000378429.3	-	5	1065	c.519G>A	c.(517-519)atG>atA	p.M173I	PAK7_ENST00000378423.1_Missense_Mutation_p.M173I|PAK7_ENST00000353224.5_Missense_Mutation_p.M173I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	173	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCTTCATTTTCATTACGTGCC	0.463000													39	44					0	0	0.000509022	0	0
CNOT1	23019	broad.mit.edu	37	16	58583759	58583759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:58583759C>T	ENST00000317147.5	-	25	3718	c.3386G>A	c.(3385-3387)tGg>tAg	p.W1129*	CNOT1_ENST00000569240.1_Nonsense_Mutation_p.W1124*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.W1129*|CNOT1_ENST00000245138.4_Nonsense_Mutation_p.W19*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1129					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGTGAAACCCAAGGCATAAA	0.388000													26	39					0	0	0.000279167	0	0
ASCC3	10973	broad.mit.edu	37	6	101090551	101090551	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:101090551G>A	ENST00000369162.2	-	24	4151	c.3807C>T	c.(3805-3807)atC>atT	p.I1269I		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1269	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ACACTGCTCGGATGTAGTATT	0.383000													27	2					0	0	0.000227799	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174107	63174107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:63174107G>A	ENST00000279178.3	+	7	1461	c.1212G>A	c.(1210-1212)atG>atA	p.M404I	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	404					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGAAATACATGAACCGTCGAG	0.493000													8	9					0	0	0.000157383	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534283	3534283	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:3534283G>A	ENST00000315677.3	-	10	2983	c.2388C>T	c.(2386-2388)ttC>ttT	p.F796F	DLGAP1_ENST00000539435.1_Silent_p.F504F|DLGAP1_ENST00000581527.1_Silent_p.F796F|DLGAP1_ENST00000534970.1_Silent_p.F480F|DLGAP1_ENST00000515196.2_Silent_p.F796F|DLGAP1_ENST00000584874.1_Silent_p.F796F|DLGAP1_ENST00000400147.2_Silent_p.F494F|DLGAP1_ENST00000400145.2_Silent_p.F494F|DLGAP1_ENST00000400155.1_Silent_p.F502F|DLGAP1_ENST00000400149.3_Silent_p.F486F|DLGAP1_ENST00000581699.1_Silent_p.F502F|DLGAP1_ENST00000400150.3_Silent_p.F512F	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	796					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAAGCTTCAGGAACCAGTGGC	0.572000													13	21					0	0	0.000219431	0	0
RBP3	5949	broad.mit.edu	37	10	48387843	48387843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:48387843G>A	ENST00000224600.4	-	1	3148	c.3035C>T	c.(3034-3036)cCt>cTt	p.P1012L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1012	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CACAATTCCAGGAATGCGGTC	0.607000													25	28					0	0	0.000147802	0	0
ZNF662	389114	broad.mit.edu	37	3	42956121	42956121	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:42956121C>T	ENST00000541208.1	+	5	925	c.556C>T	c.(556-558)Cta>Tta	p.L186L	ZNF662_ENST00000328199.6_Silent_p.L212L|ZNF662_ENST00000440367.2_Silent_p.L186L|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TCACAAAATTCTAAATGAGCA	0.353000													23	30					0	0	0.000375601	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676643	44676643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:44676643G>A	ENST00000454036.1	+	16	2076	c.2000G>A	c.(1999-2001)gGg>gAg	p.G667E	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G644E|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	667					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGGGGCGATGGGATACGAGGT	0.612000													11	13					0	0	0.00010058	0	0
TH	7054	broad.mit.edu	37	11	2185590	2185590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:2185590G>A	ENST00000381178.1	-	14	1478	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	TH_ENST00000352909.3_Missense_Mutation_p.S456F|TH_ENST00000333684.5_Missense_Mutation_p.S366F|TH_ENST00000381175.1_Missense_Mutation_p.S483F	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	487					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)	GAACTTCACGGAGAAGGGGCG	0.672000													21	29					0	0	0.00047179	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222299	142222299	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:142222299G>A	ENST00000519067.1	-	7	2448	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S	SLC45A4_ENST00000433583.2_Silent_p.S708S|SLC45A4_ENST00000024061.3_Intron|SLC45A4_ENST00000517878.1_Silent_p.S766S			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	766					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTCAGACCACGGACTCTGTCT	0.711000													10	22					0	0	0.000442599	0	0
KCNK13	56659	broad.mit.edu	37	14	90650588	90650588	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:90650588C>T	ENST00000282146.4	+	2	909	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	156						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCGCCTACATCATGAAGTCGT	0.582000													40	55					0	0	0.000509022	0	0
GPR98	84059	broad.mit.edu	37	5	89992813	89992813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:89992813G>A	ENST00000405460.2	+	34	8101	c.8005G>A	c.(8005-8007)Gaa>Aaa	p.E2669K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2669	Calx-beta 18.				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)		AGAGGATGACGAAAGTATCAT	0.373000													5	24					0	0	0.000602214	0	0
NAT10	55226	broad.mit.edu	37	11	34162704	34162704	+	Silent	SNP	C	C	T	rs142246385		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:34162704C>T	ENST00000257829.3	+	25	2867	c.2661C>T	c.(2659-2661)ccC>ccT	p.P887P	NAT10_ENST00000531159.2_Silent_p.P815P|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	887	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TTGAGCTGCCCTCGGGCCAGT	0.532000													69	76					0	0	0.000781405	0	0
MOV10L1	54456	broad.mit.edu	37	22	50546581	50546581	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:50546581G>A	ENST00000262794.5	+	4	542	c.459G>A	c.(457-459)aaG>aaA	p.K153K	MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000540615.1_Silent_p.K133K|MOV10L1_ENST00000395858.3_Silent_p.K153K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.K153K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	153					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCCCTGCAAGGGAGACTGGG	0.532000													21	26					0	0	0.000295444	0	0
DAGLA	747	broad.mit.edu	37	11	61505223	61505223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:61505223C>T	ENST00000257215.5	+	15	1695	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	527					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AGACCTCGTCCCCAGGTGAGT	0.622000													30	27					0	0	0.000279167	0	0
CDCA3	83461	broad.mit.edu	37	12	6956008	6956008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:6956008C>T	ENST00000422785.3	-	5	708	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	GNB3_ENST00000435982.2_Silent_p.D322D|GNB3_ENST00000229264.3_Silent_p.D323D|CDCA3_ENST00000604599.1_5'UTR			Q99618	CDCA3_HUMAN	cell division cycle associated 3	0					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TCACAGCTGACGGGATGGCTG	0.562000													4	13					0	0	0.000602214	0	0
DMXL1	1657	broad.mit.edu	37	5	118450179	118450179	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:118450179C>T	ENST00000311085.8	+	6	587	c.507C>T	c.(505-507)tcC>tcT	p.S169S	DMXL1_ENST00000539542.1_Silent_p.S169S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	169										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAACTGCTTCCCAAGTTCATT	0.289000													19	15					0	0	0.000175454	0	0
CRNN	49860	broad.mit.edu	37	1	152382272	152382272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:152382272C>T	ENST00000271835.3	-	3	1348	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	429					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTCCCTGCCCTTCTGTCAC	0.597000													35	25					0	0	0.00058488	0	0
ZNF852	285346	broad.mit.edu	37	3	44541560	44541560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:44541560G>A	ENST00000436261.1	-	4	869	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	237					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						TCCCCATTATGGAGTCTCTGG	0.463000													6	12					0	0	3.59834e-05	0	0
CILP	8483	broad.mit.edu	37	15	65490536	65490536	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:65490536C>T	ENST00000261883.4	-	9	2254	c.2088G>A	c.(2086-2088)gtG>gtA	p.V696V		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	696					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						ACCAGAGTTTCACTGTGGATA	0.478000													32	61					0	0	0.00058488	0	0
FEZ1	9638	broad.mit.edu	37	11	125359592	125359592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:125359592G>A	ENST00000278919.3	-	2	316	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	FEZ1_ENST00000524435.1_Nonsense_Mutation_p.Q28*|FEZ1_ENST00000366139.3_Nonsense_Mutation_p.Q28*	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	28					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TAGAAACACTGGGGCTTCTCC	0.542000													48	9					0	0	0.000781405	0	0
ZNF766	90321	broad.mit.edu	37	19	52793753	52793753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:52793753C>T	ENST00000439461.1	+	4	752	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Missense_Mutation_p.R252C|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Missense_Mutation_p.R252C	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TTGGAGAATTCGTACAGGAGA	0.438000													28	1					0	0	0.000147802	0	0
CENPU	79682	broad.mit.edu	37	4	185616448	185616448	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:185616448C>T	ENST00000281453.5	-	13	1321	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q		NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		417					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		CTTCTCATCCCTGGTCAAGGA	0.418000													174	105					0	0	0.000781405	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366123	7366123	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:7366123G>A	ENST00000311403.4	-	4	2517	c.2178C>T	c.(2176-2178)caC>caT	p.H726H	ZBTB4_ENST00000380599.4_Silent_p.H726H	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	726					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CCCCGCATCGGTGCCTCCGCT	0.701000													30	25					0	0	0.000409698	0	0
GRIK5	2901	broad.mit.edu	37	19	42566912	42566912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:42566912C>T	ENST00000262895.3	-	3	339	c.340G>A	c.(340-342)Gag>Aag	p.E114K	GRIK5_ENST00000593562.1_Missense_Mutation_p.E114K|GRIK5_ENST00000301218.4_Missense_Mutation_p.E114K	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	114						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CATCTCACCTCCTTCTCTCCA	0.617000													30	1					0	0	0.000227799	0	0
ANK2	287	broad.mit.edu	37	4	114161656	114161656	+	Silent	SNP	T	T	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:114161656T>C	ENST00000357077.4	+	8	762	c.709T>C	c.(709-711)Ttg>Ctg	p.L237L	ANK2_ENST00000506722.1_Silent_p.L216L|ANK2_ENST00000264366.6_Silent_p.L237L|ANK2_ENST00000394537.3_Silent_p.L237L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	237					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTTTACCCCTTTGCACATAGC	0.438000													24	69					0	0	0.000375601	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161147351	161147351	+	RNA	SNP	G	G	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:161147351G>C	ENST00000473595.1	+	0	1350				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						AGCTTTAGGAGGGGCAGGAGC	0.458000													5	102					0	0	0.000602214	0	0
CKAP5	9793	broad.mit.edu	37	11	46797835	46797835	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:46797835G>A	ENST00000529230.1	-	24	3007	c.2961C>T	c.(2959-2961)ctC>ctT	p.L987L	CKAP5_ENST00000312055.5_Silent_p.L987L|CKAP5_ENST00000354558.3_Silent_p.L987L|CKAP5_ENST00000415402.1_Silent_p.L987L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	987					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTTCCTTTTTGAGCTCTTCAG	0.443000													30	27					0	0	0.000339439	0	0
PREX2	80243	broad.mit.edu	37	8	69028124	69028124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:69028124G>A	ENST00000288368.4	+	26	3560	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K		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	1095					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						AGATGAACAGGAAGATTCTGG	0.393000													30	119					0	0	0.000814825	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416246	57416246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:57416246G>A	ENST00000565912.1	+	2	3088	c.382G>A	c.(382-384)Ggg>Agg	p.G128R	CX3CL1_ENST00000006053.6_Missense_Mutation_p.G166R|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Missense_Mutation_p.G172R			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	166	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGGTTCCTCAGGGACCAGGCT	0.672000													21	29					0	0	0.000175454	0	0
CCDC150	284992	broad.mit.edu	37	2	197540896	197540896	+	Silent	SNP	T	T	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:197540896T>C	ENST00000389175.4	+	11	1302	c.1167T>C	c.(1165-1167)ttT>ttC	p.F389F	CCDC150_ENST00000423093.2_Silent_p.F57F|CCDC150_ENST00000272831.7_Silent_p.F57F|CCDC150_ENST00000472405.2_3'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	389										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CGCAGACATTTCAAGAACAAA	0.403000													47	10					0	0	0.000781405	0	0
MKKS	8195	broad.mit.edu	37	20	10393935	10393935	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:10393935G>A	ENST00000347364.2	-	3	990	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	76					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AGGCTGTCAGGATCTTTAAAA	0.443000													21	21					0	0	0.000295444	0	0
TRIM65	201292	broad.mit.edu	37	17	73887084	73887084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:73887084G>A	ENST00000269383.3	-	6	1395	c.1330C>T	c.(1330-1332)Cca>Tca	p.P444S		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	444	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACACCCCTGGGAGGCGCTGG	0.677000													3	3					0	0	6.4e-05	0	0
TFDP2	7029	broad.mit.edu	37	3	141682663	141682663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:141682663G>A	ENST00000499676.2	-	10	1366	c.695C>T	c.(694-696)tCc>tTc	p.S232F	TFDP2_ENST00000489671.1_Missense_Mutation_p.S292F|TFDP2_ENST00000495310.1_Missense_Mutation_p.S195F|TFDP2_ENST00000397991.4_Missense_Mutation_p.S264F|TFDP2_ENST00000467072.1_Missense_Mutation_p.S232F|TFDP2_ENST00000486111.1_Missense_Mutation_p.S232F|TFDP2_ENST00000479040.1_Missense_Mutation_p.S231F|TFDP2_ENST00000317104.7_Missense_Mutation_p.S216F|TFDP2_ENST00000477292.1_Missense_Mutation_p.S156F|TFDP2_ENST00000310282.6_Missense_Mutation_p.S232F	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	292	DCB1.|Dimerization (Potential).				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						CTTGTCACTGGAGATGCTGCA	0.453000													43	51					0	0	0.000781405	0	0
ERLEC1	27248	broad.mit.edu	37	2	54014422	54014422	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:54014422G>A	ENST00000185150.4	+	1	206	c.75G>A	c.(73-75)ctG>ctA	p.L25L	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000405123.3_Silent_p.L25L|ERLEC1_ENST00000378239.5_Silent_p.L25L	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	25					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GCGGCCTCCTGGAGGCGTCCG	0.682000													18	3					0	0	0.000958276	0	0
KLK4	9622	broad.mit.edu	37	19	51412004	51412004	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:51412004G>A	ENST00000324041.1	-	3	305	c.306C>T	c.(304-306)tcC>tcT	p.S102S	KLK4_ENST00000431178.2_Silent_p.S53S	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	102	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GGTGCCGTACGGAGAGGCTGG	0.612000													31	2					0	0	0.000319135	0	0
OR4M1	441670	broad.mit.edu	37	14	20248867	20248867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:20248867C>T	ENST00000315957.4	+	1	467	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTGCCGACCCCTCCACTAT	0.512000													43	30					0	0	0.000781405	0	0
OR10P1	121130	broad.mit.edu	37	12	56031197	56031197	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:56031197C>T	ENST00000309675.2	+	1	554	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GCCACCCGATCATCCCGCACT	0.577000													8	31					0	0	0.000274275	0	0
SNRPB	6628	broad.mit.edu	37	20	2444485	2444485	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:2444485C>G	ENST00000339610.6	-	5	546	c.91G>C	c.(91-93)Gct>Cct	p.A31P	SNRPB_ENST00000438552.2_Missense_Mutation_p.A110P|SNRPB_ENST00000381342.2_Missense_Mutation_p.A110P			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	110					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTCTGCCAGCAGCCCTGCCG	0.607000													45	64					0	0	0.000374591	0	0
C3	718	broad.mit.edu	37	19	6719409	6719409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:6719409G>A	ENST00000245907.6	-	2	172	c.80C>T	c.(79-81)tCt>tTt	p.S27F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	27					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGTGATGATAGAGTACCTGTC	0.617000													10	24					0	0	6.40141e-05	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22196451	22196451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:22196451C>T	ENST00000344041.6	-	16	1466	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	RAPGEF5_ENST00000401957.2_Missense_Mutation_p.G235E	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	235	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGTCACAGTTCCTCTATGCTG	0.458000													11	56					0	0	0.00010058	0	0
NSUN2	54888	broad.mit.edu	37	5	6632738	6632738	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:6632738G>A	ENST00000264670.6	-	2	539	c.228C>T	c.(226-228)gcC>gcT	p.A76A	NSUN2_ENST00000506139.1_Silent_p.A76A|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	76						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TTCTTAAAGTGGCCGGGAGCG	0.552000													95	61					0	0	0.000781405	0	0
MUCL1	118430	broad.mit.edu	37	12	55251990	55251990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:55251990G>A	ENST00000308796.6	+	4	283	c.237G>A	c.(235-237)tgG>tgA	p.W79*	MUCL1_ENST00000546809.1_Nonsense_Mutation_p.W74*|MUCL1_ENST00000547990.1_3'UTR	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	79						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						TACCCAAATGGGTTGGGGATC	0.418000													11	6					0	0	0.000151284	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160271420	160271420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:160271420C>T	ENST00000264431.4	+	20	3780	c.3361C>T	c.(3361-3363)Cca>Tca	p.P1121S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1121	Ser-rich.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCCTACTTCTCCACAGAGTTC	0.343000													65	35					0	0	0.000781405	0	0
NSMAF	8439	broad.mit.edu	37	8	59515917	59515917	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:59515917C>T	ENST00000038176.3	-	13	1109	c.897G>A	c.(895-897)gaG>gaA	p.E299E	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Silent_p.E330E	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	299	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GCATGTAGCTCTCAGCAGTGT	0.557000													38	25					0	0	0.000270559	0	0
SLC6A11	6538	broad.mit.edu	37	3	10975766	10975766	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:10975766T>A	ENST00000254488.2	+	12	1555	c.1489T>A	c.(1489-1491)Tat>Aat	p.Y497N		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	497					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CAACCGGTTCTATGATAACAT	0.507000													35	46					0	0	0.000953801	0	0
LCE3E	353145	broad.mit.edu	37	1	152538652	152538652	+	Silent	SNP	T	T	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:152538652T>C	ENST00000368789.1	-	2	88	c.33A>G	c.(31-33)caA>caG	p.Q11Q		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	11					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TGGGTGGGGGTTGGCACTGCT	0.562000													46	62					0	0	0.000781405	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419074	46419074	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:46419074T>C	ENST00000458649.2	-	18	4241	c.3823A>G	c.(3823-3825)Aac>Gac	p.N1275D	AMBRA1_ENST00000534300.1_Missense_Mutation_p.N1215D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.N1185D|AMBRA1_ENST00000426438.1_Missense_Mutation_p.N1246D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.N1156D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.N1215D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.N1246D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1275					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)		AGGTGGTTGTTATTGGTCAAC	0.617000													26	34					0	0	0.00047179	0	0
C7orf31	136895	broad.mit.edu	37	7	25175609	25175609	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:25175609G>A	ENST00000409280.1	-	10	2063	c.1755C>T	c.(1753-1755)tcC>tcT	p.S585S	C7orf31_ENST00000283905.3_Silent_p.S585S			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	585										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						AGAAATAATAGGAATTATGGC	0.373000													40	83					0	0	0.000228196	0	0
ABCC3	8714	broad.mit.edu	37	17	48733370	48733370	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:48733370G>A	ENST00000285238.8	+	2	302		c.e2+1		ABCC3_ENST00000427699.1_Splice_Site	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCTCAAGATGGTCAGTGGCTC	0.473000													28	25					0	0	0.000491102	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342475	60342475	+	RNA	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:60342475G>A	ENST00000581291.1	-	0	1678																				breast(2)|kidney(1)|lung(2)	5						AGCTCTGAAGGGGGTGCCCTG	0.612000													21	78					0	0	0.000147802	0	0
ATM	472	broad.mit.edu	37	11	108203567	108203567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:108203567C>T	ENST00000278616.4	+	53	8252	c.7867C>T	c.(7867-7869)Ctt>Ttt	p.L2623F	ATM_ENST00000452508.2_Missense_Mutation_p.L2623F|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2623					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTTGAGGCACTTTGTGATGC	0.343000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			27	1					0	0	0.000184323	0	0
TRAPPC1	58485	broad.mit.edu	37	17	7833959	7833959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:7833959G>A	ENST00000303731.4	-	4	518	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	TRAPPC1_ENST00000540486.1_Missense_Mutation_p.R135C	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	135					ER to Golgi vesicle-mediated transport	endoplasmic reticulum				breast(1)|lung(2)	3		Prostate(122;0.173)				GGCAGAGAGCGAACATAGGAG	0.577000													26	33					0	0	0.000184323	0	0
RPTOR	57521	broad.mit.edu	37	17	78820345	78820345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:78820345C>T	ENST00000306801.3	+	11	1647	c.1285C>T	c.(1285-1287)Cca>Tca	p.P429S	RPTOR_ENST00000544334.2_Missense_Mutation_p.P429S|RPTOR_ENST00000537330.1_Missense_Mutation_p.P244S|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	429					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						GAACCGAAACCCACCCGAACA	0.622000													19	29					0	0	0.000229342	0	0
ITPR1	3708	broad.mit.edu	37	3	4725105	4725105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:4725105G>A	ENST00000302640.8	+	26	3502	c.3152G>A	c.(3151-3153)gGc>gAc	p.G1051D	ITPR1_ENST00000357086.4_Missense_Mutation_p.G1057D|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1057D|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1066D|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1051D|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1042D	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1066					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GATGACCACGGCGGCAGAACC	0.587000													71	83					0	0	0.000781405	0	0
CD200R1	131450	broad.mit.edu	37	3	112648073	112648073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:112648073C>T	ENST00000471858.1	-	3	647	c.415G>A	c.(415-417)Ggg>Agg	p.G139R	CD200R1_ENST00000440122.2_Missense_Mutation_p.G162R|CD200R1_ENST00000295863.4_Missense_Mutation_p.G117R|CD200R1_ENST00000490004.1_Missense_Mutation_p.G139R|CD200R1_ENST00000308611.3_Missense_Mutation_p.G162R	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	139	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGGAAATTCCCATCAGGTGTT	0.443000													30	32					0	0	0.000491102	0	0
DSC1	1823	broad.mit.edu	37	18	28722027	28722027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:28722027C>T	ENST00000257197.3	-	9	1456	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	DSC1_ENST00000257198.5_Missense_Mutation_p.E399K|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	399	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTCCATTTTCATTTCCTTGT	0.353000													22	36					0	0	0.00047179	0	0
TRIB2	28951	broad.mit.edu	37	2	12858523	12858523	+	Silent	SNP	A	A	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:12858523A>T	ENST00000155926.4	+	1	1509	c.90A>T	c.(88-90)atA>atT	p.I30I	TRIB2_ENST00000405331.3_Silent_p.I30I|TRIB2_ENST00000381465.2_Intron	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	30					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGTCGTCTATAAGGTCCGCGG	0.542000											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	7					0	0	0.000953801	0	0
HAL	3034	broad.mit.edu	37	12	96379724	96379724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:96379724G>A	ENST00000261208.3	-	14	1536	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	HAL_ENST00000538703.1_Missense_Mutation_p.R390C|HAL_ENST00000541929.1_Missense_Mutation_p.R182C	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	390					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	p.R390C(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCCTGGACGCGATCACAGAAC	0.423000													17	8					0	0	0.000175454	0	0
C8A	731	broad.mit.edu	37	1	57372379	57372379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:57372379C>T	ENST00000361249.3	+	8	1232	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	379	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.S379F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTTGGAGGCTCCTTGGGCATT	0.393000													40	21					0	0	0.000589545	0	0
DOCK4	9732	broad.mit.edu	37	7	111428734	111428734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:111428734C>T	ENST00000428084.1	-	32	3657	c.3385G>A	c.(3385-3387)Gag>Aag	p.E1129K	DOCK4_ENST00000437633.1_Missense_Mutation_p.E1129K			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1129	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTGAAGAGCTCGCGGTATGTT	0.448000													6	0					0	0	0.000274275	0	0
CDK4	1019	broad.mit.edu	37	12	58145430	58145430	+	Missense_Mutation	SNP	C	C	A	rs104894340		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:58145430C>A	ENST00000257904.6	-	2	436	c.71G>T	c.(70-72)cGt>cTt	p.R24L	CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_Missense_Mutation_p.R24L|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	24	Protein kinase.		R -> C (in CMM3; somatic and familial; generates a dominant oncogene resistant to inhibition by p16(INK4a); dbSNP:rs11547328).|R -> H (in CMM3).		cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.R24L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GTGGGGATCACGGGCCTTGTA	0.557000			Mis			melanoma			Hereditary Melanoma				29	10					2.70662e-09	3.44754e-08	0.000279167	1	0
ERLEC1	27248	broad.mit.edu	37	2	54014423	54014423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:54014423G>A	ENST00000185150.4	+	1	207	c.76G>A	c.(76-78)Gag>Aag	p.E26K	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000405123.3_Missense_Mutation_p.E26K|ERLEC1_ENST00000378239.5_Missense_Mutation_p.E26K	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	26					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						CGGCCTCCTGGAGGCGTCCGG	0.682000													18	4					0	0	0.000958276	0	0
PCLO	27445	broad.mit.edu	37	7	82580360	82580360	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:82580360G>A	ENST00000423517.2	-	6	9881	c.9544C>T	c.(9544-9546)Ccc>Tcc	p.P3182S	PCLO_ENST00000333891.8_Missense_Mutation_p.P3182S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3113	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTAAAGTGGGAACAGAGTCT	0.428000													16	0					0	0	0.000958276	0	0
OR10C1	442194	broad.mit.edu	37	6	29408418	29408418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:29408418C>T	ENST00000444197.2	+	1	1336	c.626C>T	c.(625-627)cCc>cTc	p.P209L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATCCTCTGCCCCTTTGGCCTC	0.582000													126	154					0	0	0.000781405	0	0
SLC22A25	387601	broad.mit.edu	37	11	62985075	62985075	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:62985075G>A	ENST00000403374.2	-	4	444	c.141C>T	c.(139-141)atC>atT	p.I47I	SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000306494.6_Silent_p.I213I|SLC22A10_ENST00000535888.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	213					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TATTTACAATGATGCTAAATG	0.458000													5	5					0	0	8.12818e-05	0	0
FCN3	8547	broad.mit.edu	37	1	27700472	27700472	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:27700472G>A	ENST00000270879.4	-	3	221	c.216C>T	c.(214-216)ggC>ggT	p.G72G	FCN3_ENST00000354982.2_Silent_p.G72G	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	72	Collagen-like.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CACCCTTGGGGCCCATCTTGC	0.582000													19	40					0	0	0.000175454	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395818	47395818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:47395818G>A	ENST00000310638.4	-	12	1560	c.1529C>T	c.(1528-1530)cCt>cTt	p.P510L	CYP4A11_ENST00000371904.4_Missense_Mutation_p.P511L|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	510			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ACAAGGGTTAGGGAGCCTCCT	0.567000													7	22					0	0	0.000442599	0	0
NEBL	10529	broad.mit.edu	37	10	21169763	21169763	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:21169763T>G	ENST00000377122.4	-	5	836	c.440A>C	c.(439-441)gAg>gCg	p.E147A	NEBL_ENST00000377119.1_Missense_Mutation_p.E147A|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	147					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATGTTTAACCTCAGGGGGCTC	0.413000													18	20					0	0	0.00074312	0	0
ARL1	400	broad.mit.edu	37	12	101794879	101794879	+	Silent	SNP	T	T	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:101794879T>A	ENST00000261636.8	-	4	471	c.297A>T	c.(295-297)cgA>cgT	p.R99R	ARL1_ENST00000536227.1_Silent_p.R82R|ARL1_ENST00000539055.1_Silent_p.R53R|ARL1_ENST00000551671.1_Silent_p.R99R|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551828.1_Silent_p.R82R	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	99					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		AAATGCCAATTCGGTCTCGGT	0.373000													31	53					0	0	0.00058488	0	0
DUSP15	128853	broad.mit.edu	37	20	30436629	30436629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:30436629C>T	ENST00000278979.3	-	9	782	c.706G>A	c.(706-708)Gag>Aag	p.E236K				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	236						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATGAGCTGCTCCTTGGGGTGC	0.607000													20	15					0	0	0.000586117	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501390	90501390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:90501390G>A	ENST00000325643.5	+	4	2054	c.1988G>A	c.(1987-1989)aGg>aAg	p.R663K		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TTCCCAGGGAGGCCCCAGAGT	0.612000													6	16					0	0	3.59834e-05	0	0
CHPF2	54480	broad.mit.edu	37	7	150934799	150934799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:150934799G>A	ENST00000035307.2	+	4	2864	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	CHPF2_ENST00000495645.1_Missense_Mutation_p.E443K	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	451						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCTGCTGTTGGAATGTGTGAC	0.647000													64	3					0	0	0.000781405	0	0
FAM120C	54954	broad.mit.edu	37	X	54162931	54162931	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:54162931G>A	ENST00000375180.2	-	5	1307	c.1251C>T	c.(1249-1251)tcC>tcT	p.S417S	FAM120C_ENST00000328235.4_Silent_p.S417S	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	417										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TACCTAGAAAGGAGGGACCCA	0.478000													55	0					0	0	0.000781405	0	0
FAM86A	196483	broad.mit.edu	37	16	5135648	5135648	+	Silent	SNP	C	C	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:5135648C>G	ENST00000427587.4	-	8	1046	c.978G>C	c.(976-978)ctG>ctC	p.L326L	FAM86A_ENST00000458008.4_Silent_p.L292L|FAM86A_ENST00000587133.1_Silent_p.L265L|ALG1_ENST00000592661.1_3'UTR	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	326										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						GGGTGAGATTCAGCATTGCCA	0.488000													50	74					0	0	0.000781405	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144921851	144921851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:144921851G>A	ENST00000529945.1	-	5	2106	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.S180F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S459F|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S530F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S393F|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S393F|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.S393F|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S530F|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S556F|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.S393F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	393					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGTTTCCAAGAAGCCTCTTT	0.438000			T	PDGFRB	MPD								147	592					0	0	0.000781405	0	0
OVCH2	341277	broad.mit.edu	37	11	7712505	7712505	+	RNA	SNP	T	T	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:7712505T>G	ENST00000454689.1	-	0	1633				OVCH2_ENST00000534193.1_RNA|OVCH2_ENST00000533663.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CTTACCTGCTTTAGGAATGAA	0.478000													8	9					0	0	0.000157383	0	0
NOS1	4842	broad.mit.edu	37	12	117749380	117749380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:117749380G>A	ENST00000317775.6	-	3	1428	c.743C>T	c.(742-744)tCa>tTa	p.S248L	NOS1_ENST00000344089.3_Missense_Mutation_p.S248L|NOS1_ENST00000338101.4_Missense_Mutation_p.S248L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	248					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)	AGGTTTGTGTGACTTGCCGTC	0.552000													12	55					0	0	0.000422831	0	0
LNPEP	4012	broad.mit.edu	37	5	96358022	96358022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:96358022C>T	ENST00000231368.5	+	14	3087	c.2395C>T	c.(2395-2397)Ctt>Ttt	p.L799F	LNPEP_ENST00000395770.3_Missense_Mutation_p.L785F	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	799					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		ATTTAAATTACTTCAAAACCA	0.398000													12	12					0	0	0.000219431	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35915573	35915573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:35915573G>A	ENST00000325722.3	-	15	2482	c.2248C>T	c.(2248-2250)Ctt>Ttt	p.L750F	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.L187F	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	750	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAAGAAAAAGGATAGGGTGA	0.463000													29	20					0	0	0.000409698	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74537937	74537937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:74537937G>A	ENST00000553458.1	-	6	789	c.691C>T	c.(691-693)Cct>Tct	p.P231S	CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.P218S	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	231						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	p.P231T(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GTTCCATCAGGGGCACCAGAA	0.458000													47	49					0	0	0.000781405	0	0
ELMO1	9844	broad.mit.edu	37	7	36917633	36917633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:36917633C>T	ENST00000310758.4	-	19	2451	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	ELMO1_ENST00000396040.2_Missense_Mutation_p.D122N|ELMO1_ENST00000341056.3_Missense_Mutation_p.D304N|ELMO1_ENST00000442504.1_Missense_Mutation_p.D602N|ELMO1_ENST00000396045.3_Missense_Mutation_p.D122N|ELMO1_ENST00000448602.1_Missense_Mutation_p.D602N	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	602	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGCAAGGAATCGTGGGGCACT	0.473000													33	24					0	0	0.00058488	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438448	204438448	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:204438448G>A	ENST00000367187.3	-	3	1039	c.483C>T	c.(481-483)ccC>ccT	p.P161P	PIK3C2B_ENST00000424712.2_Silent_p.P161P	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	161	Interaction with GRB2.|Pro-rich.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TAGAAGCTCGGGGAGGCAGAG	0.557000													70	42					0	0	0.000781405	0	0
AC015849.16	0	broad.mit.edu	37	17	34236443	34236443	+	RNA	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:34236443C>T	ENST00000587132.1	-	0	1584																											TGATCCTGACCCGGTGTTGGA	0.488000													9	18					0	0	0.000274275	0	0
ADCY8	114	broad.mit.edu	37	8	132051705	132051705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:132051705G>A	ENST00000286355.5	-	1	2967	c.875C>T	c.(874-876)gCc>gTc	p.A292V	ADCY8_ENST00000377928.3_Missense_Mutation_p.A292V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	292					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCCAGGATGGCCCAGGTGAG	0.652000										HNSCC(32;0.087)			73	21					0	0	0.000781405	0	0
F9	2158	broad.mit.edu	37	X	138630641	138630641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:138630641G>A	ENST00000218099.2	+	5	518	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	F9_ENST00000394090.2_Missense_Mutation_p.E133K	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	171	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GAAGTCCTGTGAACCAGCAGG	0.358000													29	2					0	0	0.000227799	0	0
ASTN1	460	broad.mit.edu	37	1	176833600	176833600	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:176833600G>A	ENST00000367654.2	-	23	3742	c.3729C>T	c.(3727-3729)ctC>ctT	p.L1243L	ASTN1_ENST00000361833.2_Silent_p.L1235L|ASTN1_ENST00000367657.3_Intron			O14525	ASTN1_HUMAN	astrotactin 1	1243					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTTCCTGAAGGAGTCCATTGC	0.527000													16	25					0	0	0.000566183	0	0
BSN	8927	broad.mit.edu	37	3	49692024	49692024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:49692024C>T	ENST00000296452.4	+	5	5149	c.5035C>T	c.(5035-5037)Ctc>Ttc	p.L1679F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1679					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCCCATCATCCTCACTGACCA	0.617000													21	20					0	0	0.000175454	0	0
LAMC1	3915	broad.mit.edu	37	1	183072501	183072501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:183072501C>T	ENST00000258341.4	+	2	714	c.457C>T	c.(457-459)Cac>Tac	p.H153Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	153	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCAAGTTCCACACCAGCCG	0.483000													103	151					0	0	0.000781405	0	0
FAM129C	199786	broad.mit.edu	37	19	17660308	17660308	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:17660308G>A	ENST00000335393.4	+	15	1953	c.1815G>A	c.(1813-1815)ttG>ttA	p.L605L	FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000449408.2_Silent_p.L331L|FAM129C_ENST00000352727.3_Silent_p.L569L|FAM129C_ENST00000332386.5_Silent_p.L605L|FAM129C_ENST00000599164.1_Silent_p.L574L|FAM129C_ENST00000599124.1_Silent_p.L538L|FAM129C_ENST00000601861.1_Silent_p.L574L|FAM129C_ENST00000595684.1_Silent_p.L605L	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	605										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						ACGGCTGCTTGGAGGTCCCAT	0.562000													53	51					0	0	0.000781405	0	0
RRN3P2	653390	broad.mit.edu	37	16	29124378	29124378	+	RNA	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:29124378G>A	ENST00000564580.1	+	0	1456																											CAGTTGTTCTGGAGAATCATG	0.343000													25	24					0	0	0.000586117	0	0
PRM2	5620	broad.mit.edu	37	16	11369729	11369729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:11369729C>T	ENST00000435245.2	-	2	490	c.381G>A	c.(379-381)tgG>tgA	p.W127*	RMI2_ENST00000572173.1_Intron|PRM2_ENST00000241808.4_3'UTR			P04554	PRM2_HUMAN	protamine 2	0					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						TTCTTAATTTCCAGCTGGGGG	0.512000													33	29					0	0	0.000692331	0	0
DEFB119	245932	broad.mit.edu	37	20	29966176	29966176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:29966176C>T	ENST00000339144.3	-	2	186	c.80G>A	c.(79-81)gGa>gAa	p.G27E	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000376321.3_Intron			Q8N690	DB119_HUMAN	defensin, beta 119	27					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			caggcagcatcccactgtcct	0.493000													28	39					0	0	0.000491102	0	0
ANK3	288	broad.mit.edu	37	10	61868653	61868653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:61868653C>T	ENST00000280772.1	-	27	3299	c.3108G>A	c.(3106-3108)atG>atA	p.M1036I	ANK3_ENST00000355288.2_Missense_Mutation_p.M170I|ANK3_ENST00000503366.1_Missense_Mutation_p.M1037I|ANK3_ENST00000373827.2_Missense_Mutation_p.M1030I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1036	ZU5.			MVEGEGLA -> HGERRGIS (in Ref. 1; AAA64834).	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTCCTTCCACCATGGGGGGTG	0.507000													5	7					0	0	3.59834e-05	0	0
KRT9	3857	broad.mit.edu	37	17	39723534	39723534	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:39723534G>A	ENST00000246662.4	-	7	1928	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S	KRT9_ENST00000588431.1_Silent_p.S388S	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	621	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ACTAGGAATGGGATGATTTtc	0.512000													42	35					0	0	0.000374591	0	0
KIAA1958	158405	broad.mit.edu	37	9	115422340	115422340	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:115422340C>T	ENST00000337530.6	+	4	2438	c.2142C>T	c.(2140-2142)tgC>tgT	p.C714C	KIAA1958_ENST00000536272.1_Silent_p.C742C	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	714										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCCACAGCTGCTGCCAGTGAG	0.617000													24	10					0	0	0.000586117	0	0
XIRP2	129446	broad.mit.edu	37	2	168106203	168106203	+	Silent	SNP	T	T	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:168106203T>A	ENST00000409195.1	+	9	8390	c.8301T>A	c.(8299-8301)gcT>gcA	p.A2767A	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.A2767A|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.A2545A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2592					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATCTCTGGCTGAAAGACATT	0.373000													15	1					0	0	0.000308642	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50414964	50414964	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:50414964C>T	ENST00000435965.1	-	17	1733	c.1560G>A	c.(1558-1560)ctG>ctA	p.L520L	CACNA2D2_ENST00000479441.1_Silent_p.L520L|CACNA2D2_ENST00000424201.2_Silent_p.L520L|CACNA2D2_ENST00000423994.2_Silent_p.L520L|CACNA2D2_ENST00000395083.1_Silent_p.L520L|CACNA2D2_ENST00000360963.3_Silent_p.L451L|CACNA2D2_ENST00000266039.3_Silent_p.L520L|CACNA2D2_ENST00000429770.1_Silent_p.L520L			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	520	Cache.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CGCCCAGGATCAGCTGGTTCT	0.602000													8	20					0	0	0.000673444	0	0
TMBIM6	7009	broad.mit.edu	37	12	50146759	50146759	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:50146759C>T	ENST00000423828.1	+	3	562	c.234C>T	c.(232-234)acC>acT	p.T78T	TMBIM6_ENST00000549385.1_Silent_p.T20T|TMBIM6_ENST00000552699.1_Silent_p.T78T|TMBIM6_ENST00000547798.1_5'UTR|TMBIM6_ENST00000395006.4_Silent_p.T20T|TMBIM6_ENST00000267115.5_Silent_p.T20T	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	20					apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTCTTAGAACCCCGTCAACGC	0.433000													30	23					0	0	0.000491102	0	0
CAMK2A	815	broad.mit.edu	37	5	149624735	149624735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:149624735C>T	ENST00000348628.6	-	13	1638	c.973G>A	c.(973-975)Gat>Aat	p.D325N	CAMK2A_ENST00000351010.6_5'UTR|CAMK2A_ENST00000398376.3_Missense_Mutation_p.D325N	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	325					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCACACCATCGCTCTTCTTG	0.617000													31	15					0	0	0.000191422	0	0
TEX14	56155	broad.mit.edu	37	17	56676714	56676714	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:56676714C>T	ENST00000389934.3	-	14	2109	c.1992G>A	c.(1990-1992)ctG>ctA	p.L664L	TEX14_ENST00000240361.8_Silent_p.L670L|TEX14_ENST00000349033.5_Silent_p.L664L	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	670						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATCTTATCCAGCTCTTCTT	0.473000													40	59					0	0	0.000781405	0	0
PDE6C	5146	broad.mit.edu	37	10	95400235	95400235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:95400235G>A	ENST00000371447.3	+	13	1796	c.1658G>A	c.(1657-1659)aGg>aAg	p.R553K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	553					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TACACTGTGAGGAAAGGGTAC	0.448000													10	11					0	0	0.00010058	0	0
VPS13B	157680	broad.mit.edu	37	8	100168821	100168821	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:100168821G>A	ENST00000395996.1	+	15	2169	c.2058G>A	c.(2056-2058)cgG>cgA	p.R686R	VPS13B_ENST00000358544.2_Silent_p.R686R|VPS13B_ENST00000355155.1_Silent_p.R686R|VPS13B_ENST00000357162.2_Silent_p.R686R			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	686					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTCTCTTCGGCCTTTGCCAT	0.393000													47	135					0	0	0.000781405	0	0
ZNF317	57693	broad.mit.edu	37	19	9271318	9271318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:9271318C>T	ENST00000247956.6	+	7	1302	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	ZNF317_ENST00000360385.3_Missense_Mutation_p.P301S	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CGGAGAGAGGCCCTACGAGTG	0.602000													10	31					0	0	0.000151284	0	0
KCNT2	343450	broad.mit.edu	37	1	196438157	196438157	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:196438157C>T	ENST00000367433.5	-	6	527	c.426G>A	c.(424-426)ttG>ttA	p.L142L	KCNT2_ENST00000367431.4_Silent_p.L142L|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Silent_p.L142L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	142						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						TAATTATTTCCAAGATGAAGG	0.318000													13	14					0	0	0.000422831	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563414	140563414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:140563414G>A	ENST00000361016.2	+	1	2435	c.1280G>A	c.(1279-1281)gGg>gAg	p.G427E		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		427	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGATATGGGGACTCCAAGG	0.468000													16	38					0	0	0.000308642	0	0
SCFD2	152579	broad.mit.edu	37	4	53773709	53773709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:53773709G>A	ENST00000401642.3	-	7	1890	c.1757C>T	c.(1756-1758)cCc>cTc	p.P586L	SCFD2_ENST00000388940.4_Intron	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	586					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGGCCTCTCGGGATGAAATAT	0.403000													25	26					0	0	0.000720815	0	0
FCRL3	115352	broad.mit.edu	37	1	157667094	157667094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:157667094G>A	ENST00000368184.3	-	6	971	c.680C>T	c.(679-681)tCc>tTc	p.S227F	FCRL3_ENST00000368186.5_Missense_Mutation_p.S227F|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	227	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTGAAGAGGGAGAATTGCAG	0.587000													38	43					0	0	0.000270559	0	0
ACSM2A	123876	broad.mit.edu	37	16	20491949	20491949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:20491949G>A	ENST00000573854.1	+	11	1450	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	ACSM2A_ENST00000396104.2_Missense_Mutation_p.D446N|ACSM2A_ENST00000536134.1_Missense_Mutation_p.D218N|ACSM2A_ENST00000417235.2_Missense_Mutation_p.D367N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D446N|ACSM2A_ENST00000575690.1_Missense_Mutation_p.D446N|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	446					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTCCTTGGAGACCGGGGAAT	0.493000													23	21					0	0	0.000279167	0	0
SYT16	83851	broad.mit.edu	37	14	62567163	62567163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:62567163G>A	ENST00000430451.2	+	6	1873	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	559	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGATGTCCCGTTGCAAGACG	0.458000													4	4					0	0	3.59834e-05	0	0
KALRN	8997	broad.mit.edu	37	3	124436155	124436155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:124436155G>A	ENST00000360013.3	+	59	8465	c.8338G>A	c.(8338-8340)Gta>Ata	p.V2780I	KALRN_ENST00000428018.2_Missense_Mutation_p.V1051I|KALRN_ENST00000291478.4_Missense_Mutation_p.V1083I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2779	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGGAAAAAGTAGCTTTCTA	0.438000													39	59					0	0	0.000228196	0	0
LARP1B	55132	broad.mit.edu	37	4	129127653	129127653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:129127653C>T	ENST00000326639.6	+	18	2591	c.2380C>T	c.(2380-2382)Cag>Tag	p.Q794*	LARP1B_ENST00000441387.1_Intron|LARP1B_ENST00000264584.5_Nonsense_Mutation_p.Q735*|LARP1B_ENST00000354456.3_Nonsense_Mutation_p.Q213*|LARP1B_ENST00000506199.1_3'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	794							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AGAAATTTTTCAGGATTTCCA	0.313000													52	127					0	0	0.000781405	0	0
SLC5A12	159963	broad.mit.edu	37	11	26742962	26742962	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:26742962G>A	ENST00000396005.3	-	1	609	c.300C>T	c.(298-300)ctC>ctT	p.L100L	SLC5A12_ENST00000280467.6_Silent_p.L100L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	100					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AGAACACAGGGAGAAAGAGCT	0.428000													14	16					0	0	0.000422831	0	0
VTN	7448	broad.mit.edu	37	17	26696553	26696553	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:26696553C>T	ENST00000226218.4	-	3	1122	c.504G>A	c.(502-504)aaG>aaA	p.K168K	CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	168	Hemopexin-like 1.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GGGAACCGTTCTTGAGGTCGG	0.617000													26	36					0	0	0.000184323	0	0
B3GAT2	135152	broad.mit.edu	37	6	71571422	71571422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:71571422C>T	ENST00000230053.6	-	4	1524	c.916G>A	c.(916-918)Gtt>Att	p.V306I	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	306					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCTAGATTAACCTTCTCTGTC	0.507000													23	3					0	0	0.000586117	0	0
S1PR1	1901	broad.mit.edu	37	1	101705604	101705604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:101705604C>T	ENST00000305352.6	+	2	1439	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	355					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CGCAGCAAATCGGACAATTCC	0.537000													42	15					0	0	0.000509022	0	0
TMEM161B	153396	broad.mit.edu	37	5	87502314	87502314	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:87502314A>G	ENST00000296595.6	-	7	725	c.601T>C	c.(601-603)Ttt>Ctt	p.F201L	TMEM161B_ENST00000511218.1_Missense_Mutation_p.F19L|TMEM161B_ENST00000514135.1_Missense_Mutation_p.F201L|TMEM161B_ENST00000509387.1_Missense_Mutation_p.F74L|TMEM161B_ENST00000506536.1_Missense_Mutation_p.F19L|TMEM161B_ENST00000512429.1_Missense_Mutation_p.F190L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	201						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AAATTTGTAAACCCTGTGGGG	0.294000													13	11					0	0	0.000219431	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985120	140985120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:140985120G>A	ENST00000298296.1	+	7	1576	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	MAGEC3_ENST00000544766.1_Missense_Mutation_p.E228K|MAGEC3_ENST00000443323.2_Missense_Mutation_p.E148K|MAGEC3_ENST00000536088.1_Missense_Mutation_p.E228K|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E228K	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	526	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CTATTTCTTTGAAGACACATT	0.438000													114	4					0	0	0.000781405	0	0
SHROOM4	57477	broad.mit.edu	37	X	50378446	50378446	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:50378446C>T	ENST00000376020.2	-	4	652	c.627G>A	c.(625-627)gaG>gaA	p.E209E	SHROOM4_ENST00000460112.3_Silent_p.E93E|SHROOM4_ENST00000289292.7_Silent_p.E209E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	209					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGGCTGGCTCCTCTGGCCTGA	0.587000													18	1					0	0	0.000566183	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333147	42333147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:42333147C>T	ENST00000262418.6	-	14	1849	c.1694G>A	c.(1693-1695)gGc>gAc	p.G565D		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	565	Involved in anion transport.|Membrane (anion exchange).		G -> A (in WU antigen).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGCAGGGGGCCCTGAGGTTT	0.522000													57	63					0	0	0.000781405	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773395	137773395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:137773395G>A	ENST00000242375.3	+	2	184	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.G48R|AKR1D1_ENST00000432161.1_Missense_Mutation_p.G48R	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	48					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TATTGACACAGGGTACCGACA	0.493000													29	1					0	0	0.000227799	0	0
PDGFC	56034	broad.mit.edu	37	4	157771497	157771497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:157771497G>A	ENST00000502773.1	-	2	680	c.190C>T	c.(190-192)Cct>Tct	p.P64S	PDGFC_ENST00000541126.1_Intron|PDGFC_ENST00000422544.2_Missense_Mutation_p.P64S	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	64	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TAAGTATGAGGAAACCTTGGG	0.368000													56	27					0	0	0.000781405	0	0
ZNF208	7757	broad.mit.edu	37	19	22157023	22157023	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:22157023G>A	ENST00000397126.4	-	4	961	c.813C>T	c.(811-813)atC>atT	p.I271I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTTAGTAAGGATTGCAGATT	0.358000													7	11					0	0	8.12818e-05	0	0
EGF	1950	broad.mit.edu	37	4	110864560	110864560	+	Missense_Mutation	SNP	C	C	T	rs144013010		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:110864560C>T	ENST00000265171.5	+	3	923	c.478C>T	c.(478-480)Cct>Tct	p.P160S	EGF_ENST00000509793.1_Missense_Mutation_p.P160S|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000503392.1_Missense_Mutation_p.P160S	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	160					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.P160S(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTTAAAATATCCTGCAAATGT	0.294000													47	119					0	0	0.000781405	0	0
IGSF9	57549	broad.mit.edu	37	1	159906692	159906692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:159906692G>A	ENST00000368094.1	-	5	604	c.407C>T	c.(406-408)cCt>cTt	p.P136L	IGSF9_ENST00000361509.3_Missense_Mutation_p.P136L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	136	Ig-like 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGAATTGAGGGGGTGCTGC	0.637000											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	34					0	0	0.00058488	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766574	27766574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:27766574C>T	ENST00000451261.2	+	5	1961	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2									p.P488H(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGTCTTGAACCCCACCCTTAC	0.493000													11	0					0	0	6.40141e-05	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884614	24884614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:24884614C>T	ENST00000382554.3	+	9	3977	c.3659C>T	c.(3658-3660)tCc>tTc	p.S1220F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1220					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGCATTTTTCCCGCTGCATT	0.637000													34	33					0	0	0.000491102	0	0
CMYA5	202333	broad.mit.edu	37	5	79032218	79032218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:79032218C>T	ENST00000446378.2	+	2	7661	c.7630C>T	c.(7630-7632)Cag>Tag	p.Q2544*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2544						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAGAAAATCAGGTATATGT	0.388000													7	3					0	0	8.12818e-05	0	0
MTSS1	9788	broad.mit.edu	37	8	125597365	125597365	+	Silent	SNP	G	G	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:125597365G>T	ENST00000518547.1	-	6	896	c.423C>A	c.(421-423)tcC>tcA	p.S141S	MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Silent_p.S141S|MTSS1_ENST00000378017.3_Silent_p.S141S	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	141	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCGTATCCGAGGACTTCTTTT	0.358000													59	312					8.4772e-36	1.08833e-34	0.000781405	1	0
TRIM21	6737	broad.mit.edu	37	11	4411508	4411508	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:4411508C>T	ENST00000254436.7	-	2	244	c.132G>A	c.(130-132)ggG>ggA	p.G44G	TRIM21_ENST00000543625.1_Silent_p.G44G	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	44					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CCCCACCTTTCCCAACCTGAG	0.582000													41	73					0	0	0.000781405	0	0
NCOR2	9612	broad.mit.edu	37	12	124841263	124841263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:124841263G>A	ENST00000356219.3	-	24	3342	c.3187C>T	c.(3187-3189)Ccc>Tcc	p.P1063S	NCOR2_ENST00000404621.1_Missense_Mutation_p.P1046S|NCOR2_ENST00000405201.1_Missense_Mutation_p.P1056S|NCOR2_ENST00000404121.2_Missense_Mutation_p.P617S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1046S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1047S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1064					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGGGCACGGGGAAGGGCAGG	0.682000													10	5					0	0	0.000442599	0	0
CYP4F3	4051	broad.mit.edu	37	19	15756619	15756619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:15756619G>A	ENST00000221307.7	+	3	337	c.289G>A	c.(289-291)Gca>Aca	p.A97T	CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.1_Intron|CYP4F3_ENST00000585846.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	97					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCCCTGGCACGCAATCGTCCG	0.577000													13	29					0	0	0.000151284	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739511	121739511	+	Missense_Mutation	SNP	G	G	A	rs149915358	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:121739511G>A	ENST00000379538.3	+	3	287	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	SNCAIP_ENST00000379536.2_Silent_p.T27T|SNCAIP_ENST00000504884.2_Silent_p.T27T|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R18Q|SNCAIP_ENST00000261368.8_Silent_p.T27T|SNCAIP_ENST00000261367.7_Silent_p.T74T|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000379533.2_Silent_p.T74T|SNCAIP_ENST00000503116.2_Silent_p.T74T	NM_001242935.1	NP_001229864.1	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	0					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CACTCAAGACGATCCCAGAAC	0.453000													4	15					0	0	8.12818e-05	0	0
OR10G4	390264	broad.mit.edu	37	11	123887186	123887186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:123887186G>A	ENST00000320891.4	+	1	905	c.905G>A	c.(904-906)aGa>aAa	p.R302K		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTGAAACTTAGAGACAAAGTA	0.378000													27	1					0	0	0.000339439	0	0
PTK7	5754	broad.mit.edu	37	6	43109726	43109726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:43109726C>T	ENST00000230419.4	+	12	2047	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V	PTK7_ENST00000481273.1_Missense_Mutation_p.A617V|PTK7_ENST00000345201.2_Missense_Mutation_p.A569V|PTK7_ENST00000352931.2_Missense_Mutation_p.A609V|PTK7_ENST00000349241.2_Missense_Mutation_p.A479V	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	609	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGCCACACAGCCCTACTGCAG	0.602000													45	28					0	0	0.000781405	0	0
CXXC1	30827	broad.mit.edu	37	18	47812604	47812604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:47812604G>A	ENST00000285106.6	-	4	961	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	CXXC1_ENST00000587396.1_5'UTR|CXXC1_ENST00000412036.2_Missense_Mutation_p.R83C|CXXC1_ENST00000589940.1_Missense_Mutation_p.R83C	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	83					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGCCGATAGCGAATCTCTAGC	0.577000													53	52					0	0	0.000781405	0	0
CRNN	49860	broad.mit.edu	37	1	152382770	152382770	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:152382770T>C	ENST00000271835.3	-	3	850	c.788A>G	c.(787-789)gAc>gGc	p.D263G	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	263	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGTTCTGGTCATTGGTGGC	0.602000													6	339					0	0	3.59834e-05	0	0
ZNF317	57693	broad.mit.edu	37	19	9271319	9271319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:9271319C>T	ENST00000247956.6	+	7	1303	c.998C>T	c.(997-999)cCc>cTc	p.P333L	ZNF317_ENST00000360385.3_Missense_Mutation_p.P301L	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GGAGAGAGGCCCTACGAGTGT	0.607000													10	28					0	0	0.000151284	0	0
BPI	671	broad.mit.edu	37	20	36937392	36937392	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:36937392C>T	ENST00000262865.4	+	3	407	c.318C>T	c.(316-318)ggC>ggT	p.G106G	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	106					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCAATGTGGGCCTTAAGTTCT	0.453000													50	55					0	0	0.000781405	0	0
NT5C1B	93034	broad.mit.edu	37	2	18764168	18764168	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:18764168C>T	ENST00000304081.4	-	6	1087	c.987G>A	c.(985-987)gtG>gtA	p.V329V	NT5C1B_ENST00000600945.1_Silent_p.V389V|NT5C1B-RDH14_ENST00000532967.1_Silent_p.V389V|NT5C1B_ENST00000359846.2_Silent_p.V389V	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCCGCACTCCCACTTGGGCAT	0.418000													39	10					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13919390	13919390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:13919390C>T	ENST00000265104.4	-	7	974	c.870G>A	c.(868-870)tgG>tgA	p.W290*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	290	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCTTTTTTTCCAGTGCTCCA	0.527000									Kartagener syndrome				263	80					0	0	0.000781405	0	0
MYOF	26509	broad.mit.edu	37	10	95147625	95147625	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:95147625T>A	ENST00000371501.4	-	19	1749	c.1627A>T	c.(1627-1629)Act>Tct	p.T543S	MYOF_ENST00000359263.4_Missense_Mutation_p.T543S|MYOF_ENST00000371502.4_Missense_Mutation_p.T543S|MYOF_ENST00000358334.5_Missense_Mutation_p.T530S			Q9NZM1	MYOF_HUMAN	myoferlin	543					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCAAGAAAAGTGGCTAATTCA	0.428000													26	42					0	0	0.000147802	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984544	140984544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:140984544G>A	ENST00000544766.1	+	5	633	c.106G>A	c.(106-108)Gag>Aag	p.E36K	MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.E36K|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E36K	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	430										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGAGGAGGAGGAGGATGc	0.517000													41	2					0	0	0.000374591	0	0
ACTN2	88	broad.mit.edu	37	1	236923029	236923029	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:236923029G>A	ENST00000366578.4	+	19	2473	c.2307G>A	c.(2305-2307)aaG>aaA	p.K769K	ACTN2_ENST00000542672.1_Silent_p.K769K|ACTN2_ENST00000546208.1_Silent_p.K263K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	769	EF-hand 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AACAGAGGAAGAATGGCCTGA	0.428000													34	108					0	0	0.000319135	0	0
ATP13A5	344905	broad.mit.edu	37	3	193039583	193039583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:193039583G>A	ENST00000342358.4	-	16	1919	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	601					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGGCTCGAGGAAAATGGAAA	0.502000													27	17					0	0	0.000339439	0	0
NOS1	4842	broad.mit.edu	37	12	117768500	117768500	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:117768500G>A	ENST00000317775.6	-	2	1060	c.375C>T	c.(373-375)ccC>ccT	p.P125P	NOS1_ENST00000344089.3_Silent_p.P125P|NOS1_ENST00000338101.4_Silent_p.P125P	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	125	Interaction with NOSIP (By similarity).				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)	GGGGACCCAGGGGCTGTGTCA	0.652000													31	15					0	0	0.000339439	0	0
GDF5	8200	broad.mit.edu	37	20	34025487	34025487	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:34025487G>A	ENST00000374372.1	-	3	725	c.222C>T	c.(220-222)gcC>gcT	p.A74A	GDF5_ENST00000374369.3_Silent_p.A74A			P43026	GDF5_HUMAN	growth differentiation factor 5	74					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)			CCTTTGCCCTGGCATTGGCAT	0.657000													16	13					0	0	0.000422831	0	0
MB21D2	151963	broad.mit.edu	37	3	192517330	192517330	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:192517330G>A	ENST00000392452.2	-	2	641	c.321C>T	c.(319-321)gtC>gtT	p.V107V		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	107										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CCCGGGCATAGACATTAAGCT	0.522000													14	27					0	0	0.000151284	0	0
DENND5B	160518	broad.mit.edu	37	12	31600507	31600507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:31600507G>A	ENST00000389082.5	-	6	2090	c.1826C>T	c.(1825-1827)tCt>tTt	p.S609F	DENND5B_ENST00000536562.1_Missense_Mutation_p.S644F|DENND5B_ENST00000354285.4_Missense_Mutation_p.S631F|DENND5B_ENST00000306833.6_Missense_Mutation_p.S644F	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	609						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGATATATAGATGTCCGCAA	0.388000													23	51					0	0	0.000586117	0	0
TACC3	10460	broad.mit.edu	37	4	1730378	1730378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:1730378C>T	ENST00000313288.4	+	4	1355	c.1249C>T	c.(1249-1251)Ccg>Tcg	p.P417S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	417						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)			AAACTTCATCCCGTTCGGAGG	0.622000													37	28					0	0	0.000589545	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900044	151900044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:151900044C>T	ENST00000393900.3	-	3	1110	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.E253K|MAGEA12_ENST00000393869.3_Missense_Mutation_p.E253K	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	253	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTAGTTTTCCTGCACCAAA	0.557000													73	2					0	0	0.000781405	0	0
EBF1	1879	broad.mit.edu	37	5	158524054	158524054	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:158524054G>A	ENST00000313708.6	-	2	501	c.219C>T	c.(217-219)gcC>gcT	p.A73A	EBF1_ENST00000380654.4_Silent_p.A73A|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.A73A	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	73					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCGTAGAGGGCCAGGACGA	0.617000			T	HMGA2	lipoma								15	4					0	0	0.000308642	0	0
PACS1	55690	broad.mit.edu	37	11	66008961	66008961	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:66008961C>T	ENST00000320580.4	+	22	2526	c.2493C>T	c.(2491-2493)ccC>ccT	p.P831P	PACS1_ENST00000524815.1_5'UTR|PACS1_ENST00000529757.1_Silent_p.P367P	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	831					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGGGCCACCCCGGGGAGCGGA	0.617000													5	9					0	0	3.59834e-05	0	0
CEP104	9731	broad.mit.edu	37	1	3755581	3755581	+	Missense_Mutation	SNP	G	G	A	rs139901107		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:3755581G>A	ENST00000378230.3	-	8	1162	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	280						centriole	binding	p.R280C(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ACCTCGGCACGATACTGCTCC	0.587000													83	64					0	0	0.000781405	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053665	67053665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:67053665C>T	ENST00000295568.4	+	3	327	c.196C>T	c.(196-198)Cga>Tga	p.R66*	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_Intron|KBTBD8_ENST00000417314.2_Nonsense_Mutation_p.R92*	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	92	BTB.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAAAGAAGTTCGAATAGTTGG	0.378000													50	49					0	0	0.000781405	0	0
FAM135B	51059	broad.mit.edu	37	8	139155319	139155319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:139155319C>T	ENST00000395297.1	-	16	3744	c.3574G>A	c.(3574-3576)Gat>Aat	p.D1192N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1192										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)			AATAACCGATCCGTCATAGTA	0.458000										HNSCC(54;0.14)			59	18					0	0	0.000781405	0	0
SNAP47	116841	broad.mit.edu	37	1	227947011	227947011	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:227947011G>A	ENST00000366759.4	+	3	1362	c.948G>A	c.(946-948)cgG>cgA	p.R316R	SNAP47_ENST00000366760.1_Silent_p.R74R|SNAP47_ENST00000315781.5_Silent_p.R316R	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	316						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCCGCCAGCGGTTTATTGGAA	0.458000													64	56					0	0	0.000781405	0	0
PXDNL	137902	broad.mit.edu	37	8	52384816	52384816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:52384816C>T	ENST00000356297.4	-	8	843	c.743G>A	c.(742-744)gGa>gAa	p.G248E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G248E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	248	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GACGGTATTTCCTGATGGTAC	0.433000													48	129					0	0	0.000781405	0	0
SLC5A5	6528	broad.mit.edu	37	19	17994490	17994490	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:17994490G>A	ENST00000222248.3	+	11	1590	c.1242_splice	c.e11-1	p.G415_splice		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	415					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						ACTCTCCCAGGGCTCCTTCAC	0.642000													35	25					0	0	0.000509022	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883054	4883054	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:4883054G>A	ENST00000361571.5	-	8	1971	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	CAMTA2_ENST00000572543.1_Silent_p.I526I|CAMTA2_ENST00000358183.4_Silent_p.I521I|CAMTA2_ENST00000381311.5_Silent_p.I523I|CAMTA2_ENST00000348066.3_Silent_p.I521I|CAMTA2_ENST00000414043.3_Silent_p.I544I	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	521					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TCGGAGCAGGGATGCTTGGAG	0.562000													59	78					0	0	0.000781405	0	0
ZNF292	23036	broad.mit.edu	37	6	87965184	87965184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:87965184C>T	ENST00000369577.3	+	8	1880	c.1837C>T	c.(1837-1839)Cca>Tca	p.P613S	ZNF292_ENST00000339907.4_Missense_Mutation_p.P608S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGAAGGCCTCCAAAGATCAC	0.363000													14	0					0	0	0.000422831	0	0
SGCB	6443	broad.mit.edu	37	4	52894173	52894173	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:52894173G>A	ENST00000381431.5	-	5	936	c.714C>T	c.(712-714)acC>acT	p.T238T	SGCB_ENST00000535450.1_Silent_p.T168T	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	238	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GAAATTCAATGGTTTTGCCCA	0.358000													73	66					0	0	0.000781405	0	0
SMCO3	440087	broad.mit.edu	37	12	14959457	14959457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:14959457G>A	ENST00000316048.2	-	2	230	c.158C>T	c.(157-159)tCc>tTc	p.S53F	C12orf60_ENST00000330828.2_Intron|C12orf60_ENST00000527783.1_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		CATCTCAATGGAGGCCAGCCT	0.443000													35	102					0	0	0.000953801	0	0
DNAH9	1770	broad.mit.edu	37	17	11523065	11523065	+	Silent	SNP	G	G	A	rs147288160		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:11523065G>A	ENST00000262442.3	+	6	1385	c.1317G>A	c.(1315-1317)ttG>ttA	p.L439L	DNAH9_ENST00000454412.2_Silent_p.L439L|DNAH9_ENST00000579406.1_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	439	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGTGCGATTGGATGGCTTCC	0.517000													42	38					0	0	0.000437636	0	0
HCK	3055	broad.mit.edu	37	20	30686916	30686916	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:30686916C>T	ENST00000534862.1	+	13	1659	c.1296C>T	c.(1294-1296)acC>acT	p.T432T	HCK_ENST00000375862.2_Silent_p.T451T|HCK_ENST00000375852.2_Silent_p.T452T|HCK_ENST00000538448.1_Silent_p.T431T|HCK_ENST00000520553.1_Silent_p.T431T|HCK_ENST00000518730.1_Silent_p.T430T	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	452	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGATCGTCACCTACGGCCGGA	0.557000													70	81					0	0	0.000781405	0	0
ATP13A3	79572	broad.mit.edu	37	3	194177885	194177885	+	Silent	SNP	A	A	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:194177885A>T	ENST00000439040.1	-	7	1289	c.498T>A	c.(496-498)gtT>gtA	p.V166V	ATP13A3_ENST00000256031.4_Silent_p.V166V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	166					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACGTACAAGAAACACCTTCAT	0.328000													25	41					0	0	0.000586117	0	0
IGFLR1	79713	broad.mit.edu	37	19	36231322	36231322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:36231322G>A	ENST00000592537.1	-	3	401	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000246532.1_Missense_Mutation_p.P101S|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000587101.1_5'UTR			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	101						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						CCCGCGGCGGGAGTAGGGGTC	0.692000													14	0					0	0	0.00074312	0	0
ABCA13	154664	broad.mit.edu	37	7	48391836	48391836	+	Silent	SNP	G	G	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:48391836G>T	ENST00000435803.1	+	31	10464	c.10440G>T	c.(10438-10440)ctG>ctT	p.L3480L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3480					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGTCAAACTGCCACCCCATG	0.433000													67	39					1.52589e-26	1.9559e-25	0.000781405	1	0
BPIFB3	359710	broad.mit.edu	37	20	31656669	31656669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:31656669C>T	ENST00000375494.3	+	10	1039	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	347					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GAGGGAAGCTCCCACGGTCAC	0.577000													24	19					0	0	0.000586117	0	0
CNGA1	1259	broad.mit.edu	37	4	47939314	47939314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:47939314C>T	ENST00000402813.3	-	10	1546	c.1404G>A	c.(1402-1404)atG>atA	p.M468I	CNGA1_ENST00000544810.1_Missense_Mutation_p.M399I|CNGA1_ENST00000514170.1_Missense_Mutation_p.M399I|CNGA1_ENST00000358519.4_Missense_Mutation_p.M399I|CNGA1_ENST00000420489.2_Missense_Mutation_p.M399I			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	399					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TGTTGGAAATCATAGAACCTA	0.388000													39	43					0	0	0.000953801	0	0
CCDC105	126402	broad.mit.edu	37	19	15132169	15132169	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:15132169C>T	ENST00000292574.3	+	4	961	c.879C>T	c.(877-879)tgC>tgT	p.C293C		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	293					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TTGCAGCGTGCGCCTTGGCGC	0.617000													9	19					0	0	6.40141e-05	0	0
SCAND3	114821	broad.mit.edu	37	6	28543645	28543645	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:28543645G>A	ENST00000452236.2	-	3	1454	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	279					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGTACAAGGATAACATCAA	0.378000													56	86					0	0	0.000781405	0	0
FAT4	79633	broad.mit.edu	37	4	126412767	126412767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:126412767G>A	ENST00000394329.3	+	17	14803	c.14790G>A	c.(14788-14790)tgG>tgA	p.W4930*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.W3171*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4930					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTTCAACTGGGACAACCTTT	0.532000													37	29					0	0	0.000270559	0	0
PIGG	54872	broad.mit.edu	37	4	501335	501335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:501335G>A	ENST00000453061.2	+	4	818	c.712G>A	c.(712-714)Gag>Aag	p.E238K	PIGG_ENST00000536264.1_Missense_Mutation_p.E116K|PIGG_ENST00000503111.1_Missense_Mutation_p.E149K|PIGG_ENST00000509768.1_Missense_Mutation_p.E149K|PIGG_ENST00000383028.4_Intron|PIGG_ENST00000504346.1_Missense_Mutation_p.E149K|PIGG_ENST00000310340.5_Missense_Mutation_p.E238K|PIGG_ENST00000296306.7_Missense_Mutation_p.E149K	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	238					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GAAGCTGAGCGAGATGGACAG	0.557000													11	16					0	0	0.000673444	0	0
NOC4L	79050	broad.mit.edu	37	12	132632303	132632303	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:132632303C>T	ENST00000330579.1	+	5	620	c.579C>T	c.(577-579)gcC>gcT	p.A193A	NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	193					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		ATGCCGTGGCCCGGGTCACTG	0.682000													34	23					0	0	0.000270559	0	0
ANK1	286	broad.mit.edu	37	8	41548013	41548013	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:41548013G>A	ENST00000396942.1	-	32	4046	c.3963C>T	c.(3961-3963)aaC>aaT	p.N1321N	ANK1_ENST00000265709.8_Silent_p.N1362N|ANK1_ENST00000396945.1_Silent_p.N1321N|ANK1_ENST00000379758.2_Silent_p.N1321N|ANK1_ENST00000289734.7_Silent_p.N1321N|ANK1_ENST00000347528.4_Silent_p.N1321N|ANK1_ENST00000352337.4_Silent_p.N1321N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1321					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCAGACGGTTCTCCCGAA	0.567000													20	29					0	0	0.000175454	0	0
ZNF500	26048	broad.mit.edu	37	16	4810525	4810525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:4810525G>A	ENST00000219478.6	-	5	1027	c.728C>T	c.(727-729)cCa>cTa	p.P243L	ZNF500_ENST00000545009.1_Missense_Mutation_p.P243L			O60304	ZN500_HUMAN	zinc finger protein 500	243	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCGCTGAGCTGGGTCCATGCA	0.587000													26	38					0	0	0.000814825	0	0
AADACL2	344752	broad.mit.edu	37	3	151475240	151475240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:151475240G>A	ENST00000356517.3	+	5	1173	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	355						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACAAGACTTCGAAATGTTGGA	0.358000													28	37					0	0	0.000279167	0	0
KCNB2	9312	broad.mit.edu	37	8	73849485	73849485	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:73849485A>T	ENST00000523207.1	+	3	2483	c.1895A>T	c.(1894-1896)aAg>aTg	p.K632M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	632					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTGCAGATGAAGTTCCCAACC	0.602000													40	127					0	0	0.000680045	0	0
DNAJC21	134218	broad.mit.edu	37	5	34937619	34937619	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:34937619C>T	ENST00000382021.2	+	5	854	c.627C>T	c.(625-627)ttC>ttT	p.F209F	DNAJC21_ENST00000342382.4_Silent_p.F209F|DNAJC21_ENST00000303525.7_Silent_p.F209F	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	209					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TGGTAGCTTTCATTCGTAAAA	0.463000													36	4					0	0	0.000814825	0	0
FER1L5	90342	broad.mit.edu	37	2	97370339	97370339	+	RNA	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:97370339G>A	ENST00000457909.1	+	0	5587							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CAAACCTAAAGCCTACAATAG	0.453000													117	11					0	0	0.000781405	0	0
RC3H2	54542	broad.mit.edu	37	9	125621031	125621031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:125621031C>T	ENST00000373670.1	-	11	2800	c.2200G>A	c.(2200-2202)Gaa>Aaa	p.E734K	RC3H2_ENST00000357244.2_Missense_Mutation_p.E734K|RC3H2_ENST00000423239.2_Missense_Mutation_p.E734K			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	734						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTATATCTTTCCCGCAAAGAT	0.443000													38	30					0	0	0.000953801	0	0
OR2M5	127059	broad.mit.edu	37	1	248308924	248308924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:248308924G>A	ENST00000366476.1	+	1	475	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	159					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)			TGCAATCATTGATGCTGTAGC	0.468000													47	43					0	0	0.000781405	0	0
EPPK1	83481	broad.mit.edu	37	8	144945045	144945045	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:144945045G>A	ENST00000525985.1	-	2	2448	c.2377C>T	c.(2377-2379)Ctg>Ttg	p.L793L				P58107	EPIPL_HUMAN	epiplakin 1	793						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)			AGGAGGTACAGGCCCGTCTCG	0.627000													53	15					0	0	0.000781405	0	0
TPP1	1200	broad.mit.edu	37	11	6638091	6638091	+	Splice_Site	SNP	C	C	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:6638091C>G	ENST00000533371.1	-	6	757		c.e6-1		TPP1_ENST00000299427.6_Splice_Site			O14773	TPP1_HUMAN	tripeptidyl peptidase I						bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GCTCCAGGAACTATGGAGGGA	0.572000													30	49					0	0	0.000184323	0	0
ABHD15	116236	broad.mit.edu	37	17	27889940	27889940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:27889940G>A	ENST00000307201.4	-	2	1216	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	349						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CACAGGCACGGCTGCCTCATC	0.582000													37	47					0	0	0.000270559	0	0
CSMD1	64478	broad.mit.edu	37	8	2813184	2813184	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:2813184G>A	ENST00000520002.1	-	65	10479	c.9924C>T	c.(9922-9924)ttC>ttT	p.F3308F	CSMD1_ENST00000400186.3_Silent_p.F3131F|CSMD1_ENST00000542608.1_Silent_p.F3130F|CSMD1_ENST00000602723.1_Silent_p.F3131F|CSMD1_ENST00000602557.1_Silent_p.F3308F|CSMD1_ENST00000537824.1_Silent_p.F3307F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3308	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCCTGCGAGGAAAAAGCCTG	0.507000													14	13					0	0	0.000308642	0	0
WDR48	57599	broad.mit.edu	37	3	39135452	39135452	+	Silent	SNP	T	T	C			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:39135452T>C	ENST00000302313.5	+	18	1861	c.1833T>C	c.(1831-1833)tcT>tcC	p.S611S	WDR48_ENST00000396258.3_Silent_p.S529S|WDR48_ENST00000418020.1_Silent_p.S53S|WDR48_ENST00000544962.1_Silent_p.S336S|WDR48_ENST00000466405.1_3'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	611					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATAATGAGTCTCAAACCACTA	0.368000													9	23					0	0	0.000274275	0	0
RAB35	11021	broad.mit.edu	37	12	120535157	120535157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:120535157C>T	ENST00000534951.1	-	5	489	c.373G>A	c.(373-375)Gct>Act	p.A125T	RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000229340.5_Silent_p.E166E|RAB35_ENST00000432953.2_5'UTR			Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	0					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		GGAGGACCAGCTCCGTGATGC	0.572000													8	28					0	0	0.000442599	0	0
CD244	51744	broad.mit.edu	37	1	160801213	160801213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:160801213C>T	ENST00000368034.4	-	9	1199	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	CD244_ENST00000368033.3_Missense_Mutation_p.G346E|CD244_ENST00000322302.7_Missense_Mutation_p.G249E	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	346					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.G341E(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTGACTCTTTCCAATCTGCAA	0.448000													71	70					0	0	0.000781405	0	0
FAM13C	220965	broad.mit.edu	37	10	61062601	61062601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:61062601G>A	ENST00000373867.3	-	6	683	c.218C>T	c.(217-219)tCg>tTg	p.S73L	FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000373868.2_Missense_Mutation_p.S156L|FAM13C_ENST00000435852.2_Missense_Mutation_p.S156L|FAM13C_ENST00000277705.6_Missense_Mutation_p.S156L|FAM13C_ENST00000442566.3_Missense_Mutation_p.S156L|FAM13C_ENST00000422313.2_Missense_Mutation_p.S156L|FAM13C_ENST00000468840.2_Missense_Mutation_p.S73L|FAM13C_ENST00000419214.2_Missense_Mutation_p.S156L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	156										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ATCCTTTGGCGAAATGGCAGT	0.353000													33	38					0	0	0.000953801	0	0
KCNH2	3757	broad.mit.edu	37	7	150648102	150648102	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:150648102G>A	ENST00000392968.2	-	6	2884	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	KCNH2_ENST00000262186.5_Silent_p.I684I|KCNH2_ENST00000430723.3_Silent_p.I684I|KCNH2_ENST00000330883.4_Silent_p.I344I			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	684			N -> D (in LQT2).|N -> K (in SQT1).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGTGGAAGCGGATGAACTCCC	0.622000													49	1					0	0	0.000781405	0	0
CHRDL1	91851	broad.mit.edu	37	X	109964648	109964648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:109964648G>A	ENST00000218054.4	-	5	605	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W	CHRDL1_ENST00000372042.1_Missense_Mutation_p.R138W|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000372045.1_Missense_Mutation_p.R131W|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000444321.2_Missense_Mutation_p.R137W|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R137W	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	131	VWFC 2.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TTGGGTTGCCGATTCTGAAAG	0.483000													129	4					0	0	0.000781405	0	0
CLCN3	1182	broad.mit.edu	37	4	170618537	170618537	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:170618537C>T	ENST00000513761.1	+	9	1774	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	CLCN3_ENST00000347613.4_Silent_p.A405A|CLCN3_ENST00000360642.3_Silent_p.A378A|CLCN3_ENST00000504131.2_Silent_p.A388A	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	405					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTTGGGGAGCCTTTTTCATTA	0.438000													39	84					0	0	0.000437636	0	0
KDM4A	9682	broad.mit.edu	37	1	44128634	44128634	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:44128634A>G	ENST00000372396.3	+	5	633	c.499A>G	c.(499-501)Acc>Gcc	p.T167A	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	167	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAGTGGGATCACCATTGAGGG	0.493000													48	33					0	0	0.000781405	0	0
CHST5	23563	broad.mit.edu	37	16	75563490	75563490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:75563490G>A	ENST00000336257.3	-	3	2187	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	CHST5_ENST00000541075.1_Missense_Mutation_p.R271C|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	265					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CACACCTCGCGAATCAGGCGC	0.716000													37	37					0	0	0.000953801	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43896194	43896194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:43896194C>T	ENST00000389420.3	-	4	627	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E210K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	210						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AAACTGGTTTCCTTTATTTGA	0.308000													134	87					0	0	0.000781405	0	0
TCF25	22980	broad.mit.edu	37	16	89977544	89977544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:89977544C>T	ENST00000263347.7	+	16	1621	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*	TCF25_ENST00000263346.8_Silent_p.N643N|RP11-566K11.7_ENST00000570217.1_RNA			Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	28					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGGGCCTGAACAGGCTGATGC	0.657000													28	28					0	0	0.000147802	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182676	57182676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:57182676C>T	ENST00000504228.1	+	6	3113	c.3008C>T	c.(3007-3009)cCg>cTg	p.P1003L	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P996L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P1003L			Q6ZU35	K1211_HUMAN	KIAA1211	1003	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCAAGTGAGCCGTCCAAGGAG	0.657000													14	3					0	0	0.000422831	0	0
C2CD5	9847	broad.mit.edu	37	12	22678583	22678583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:22678583G>A	ENST00000333957.4	-	5	661	c.406C>T	c.(406-408)Cga>Tga	p.R136*	C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000540703.1_5'UTR|C2CD5_ENST00000396028.2_Nonsense_Mutation_p.R136*|C2CD5_ENST00000446597.1_Nonsense_Mutation_p.R136*|C2CD5_ENST00000536386.1_Nonsense_Mutation_p.R136*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.R136*|C2CD5_ENST00000542676.1_Nonsense_Mutation_p.R136*	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5																		TGCCTAAATCGATTTAAATCA	0.299000													70	134					0	0	0.000781405	0	0
AOX1	316	broad.mit.edu	37	2	201464354	201464354	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr2:201464354C>T	ENST00000374700.2	+	5	562	c.321C>T	c.(319-321)gcC>gcT	p.A107A		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	107					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGAGGATTGCCAAGTGTCATG	0.527000													41	5					0	0	0.000437636	0	0
DNAH17	8632	broad.mit.edu	37	17	76568964	76568964	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:76568964G>A	ENST00000389840.5	-	3	482	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	DNAH17_ENST00000585328.1_Silent_p.L120L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGTTTAACAGAGAAGAGAGG	0.547000													16	18					0	0	0.000566183	0	0
HPCAL4	51440	broad.mit.edu	37	1	40150167	40150167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:40150167C>T	ENST00000372844.3	-	2	500	c.109G>A	c.(109-111)Gac>Aac	p.D37N		NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	37	EF-hand 1.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGGGGCAGTCCTTCAGGAAG	0.612000													15	14					0	0	0.000566183	0	0
DPYD	1806	broad.mit.edu	37	1	97700485	97700485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:97700485G>A	ENST00000370192.3	-	19	2465	c.2365C>T	c.(2365-2367)Ccc>Tcc	p.P789S	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	789					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCCAAAATGGGAAATCCAGGC	0.468000													11	29					0	0	6.40141e-05	0	0
FER1L6	654463	broad.mit.edu	37	8	124989728	124989728	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:124989728C>T	ENST00000522917.1	+	10	1148	c.942C>T	c.(940-942)ttC>ttT	p.F314F	FER1L6_ENST00000399018.1_Silent_p.F314F	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	314	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGAAATGTTCCCTCCCTTGT	0.502000													80	49					0	0	0.000781405	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353836	77353836	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:77353836G>A	ENST00000282849.5	-	16	2860	c.2442C>T	c.(2440-2442)ttC>ttT	p.F814F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	814	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGTCCCAGCGAAGGGGAACT	0.577000													16	23					0	0	0.00074312	0	0
POLR2B	5431	broad.mit.edu	37	4	57871556	57871556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:57871556C>T	ENST00000381227.1	+	9	1458	c.1045C>T	c.(1045-1047)Cct>Tct	p.P349S	POLR2B_ENST00000431623.2_Missense_Mutation_p.P274S|POLR2B_ENST00000441246.2_Missense_Mutation_p.P342S|POLR2B_ENST00000314595.5_Missense_Mutation_p.P349S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	349					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGAAATGCTCCCTCATGTTGG	0.338000													69	146					0	0	0.000781405	0	0
MEI1	150365	broad.mit.edu	37	22	42128253	42128253	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr22:42128253C>T	ENST00000401548.3	+	10	1141	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Silent_p.I107I|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	367				I -> T (in Ref. 4; AAH35720).			binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGGTAGGGATCGAGGCAGTGG	0.557000													8	7					0	0	0.000442599	0	0
PARD3	56288	broad.mit.edu	37	10	34673110	34673110	+	Silent	SNP	A	A	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:34673110A>G	ENST00000374789.3	-	8	1288	c.963T>C	c.(961-963)aaT>aaC	p.N321N	PARD3_ENST00000544292.1_Silent_p.N51N|PARD3_ENST00000374790.3_Silent_p.N277N|PARD3_ENST00000374776.1_Silent_p.N321N|PARD3_ENST00000374773.1_Silent_p.N321N|PARD3_ENST00000374788.3_Silent_p.N321N|PARD3_ENST00000346874.4_Silent_p.N321N|PARD3_ENST00000545260.1_Silent_p.N277N|PARD3_ENST00000350537.4_Silent_p.N321N|PARD3_ENST00000545693.1_Silent_p.N321N|PARD3_ENST00000340077.5_Silent_p.N321N|PARD3_ENST00000374794.3_Silent_p.N277N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	321	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAATGCAATCATTCTCACGAA	0.388000													17	33					0	0	0.000958276	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433651	204433651	+	Silent	SNP	G	G	A	rs116461271	by1000genomes	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:204433651G>A	ENST00000367187.3	-	5	1672	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	PIK3C2B_ENST00000424712.2_Silent_p.L372L	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	372					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCTCATCCCCGAGGTGCTCTG	0.517000													78	54					0	0	0.000781405	0	0
HBZ	3050	broad.mit.edu	37	16	202988	202988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:202988C>T	ENST00000252951.2	+	1	303	c.80C>T	c.(79-81)aCc>aTc	p.T27I		NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN	hemoglobin, zeta	27						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ACCATCGGCACCGAGACTCTG	0.642000													9	11					0	0	0.000274275	0	0
SIL1	64374	broad.mit.edu	37	5	138287560	138287560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:138287560G>A	ENST00000394817.2	-	8	920	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000509534.1_Nonsense_Mutation_p.Q268*|SIL1_ENST00000265195.5_Nonsense_Mutation_p.Q261*	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	261					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCCTCCACCTGGACCTTGGGG	0.612000									Marinesco-Sjgren syndrome				46	17					0	0	0.000680045	0	0
TRAV17	28666	broad.mit.edu	37	14	22466309	22466309	+	RNA	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:22466309G>A	ENST00000390445.2	+	0	386																											CACAGTGGAAGATTAAGAGTC	0.423000													30	26					0	0	0.000279167	0	0
NPAP1	23742	broad.mit.edu	37	15	24921390	24921390	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:24921390C>T	ENST00000329468.2	+	1	850	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GTTCACTCTCCTGCTGCCTTC	0.642000													29	38					0	0	0.000814825	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512731	70512731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:70512731C>T	ENST00000503640.1	-	1	687	c.632G>A	c.(631-633)aGa>aAa	p.R211K	UGT2A1_ENST00000286604.4_Missense_Mutation_p.R211K|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R211K|UGT2A1_ENST00000514019.1_Missense_Mutation_p.R211K	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	211					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GATGAAATTTCTTATTCTGTC	0.388000													20	11					0	0	0.000295444	0	0
EIF6	3692	broad.mit.edu	37	20	33872062	33872062	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr20:33872062A>G	ENST00000374450.3	-	3	374	c.110T>C	c.(109-111)gTg>gCg	p.V37A	EIF6_ENST00000374436.3_Missense_Mutation_p.V37A|EIF6_ENST00000462894.1_5'UTR|EIF6_ENST00000374443.3_Missense_Mutation_p.C77R	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	37					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCCTCGAACACACTGTAGGG	0.672000													17	63					0	0	0.000132079	0	0
KCTD13	253980	broad.mit.edu	37	16	29923186	29923186	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:29923186G>A	ENST00000568000.1	-	4	1508	c.507C>T	c.(505-507)ccC>ccT	p.P169P		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	169					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						GCTTCACCACGGGCTGGCGGG	0.677000													18	23					0	0	0.000175454	0	0
PCSK5	5125	broad.mit.edu	37	9	78968949	78968949	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:78968949G>A	ENST00000545128.1	+	36	5525	c.4986_splice	c.e36-1	p.G1663_splice		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	830					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTCTTAACAGGGAGAGAAGTT	0.483000													5	5					0	0	3.59834e-05	0	0
PREX2	80243	broad.mit.edu	37	8	69000017	69000017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:69000017C>T	ENST00000288368.4	+	19	2363	c.2086C>T	c.(2086-2088)Cct>Tct	p.P696S	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	696	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						GGGATTTGGCCCTTCTGTTGT	0.458000													63	34					0	0	0.000781405	0	0
OR2L13	284521	broad.mit.edu	37	1	248262935	248262935	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:248262935C>T	ENST00000366478.2	+	3	595	c.258C>T	c.(256-258)tcC>tcT	p.S86S	OR2L13_ENST00000358120.2_Silent_p.S86S	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACTTCCTGTCCGGCCAGAAAG	0.542000													68	62					0	0	0.000781405	0	0
SAFB	6294	broad.mit.edu	37	19	5667165	5667165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:5667165C>T	ENST00000292123.5	+	18	2550	c.2443C>T	c.(2443-2445)Cct>Tct	p.P815S	SAFB_ENST00000538656.1_Missense_Mutation_p.P657S|SAFB_ENST00000433404.1_Missense_Mutation_p.P645S|SAFB_ENST00000592224.1_Missense_Mutation_p.P814S|SAFB_ENST00000588852.1_Missense_Mutation_p.P815S|SAFB_ENST00000454510.1_Missense_Mutation_p.P746S	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	815	Arg-rich.|Gly-rich.|Interaction with SAFB2.				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)		GGGGCTGCCTCCTCCCCCCAG	0.697000													5	3					0	0	0.000602214	0	0
DLG2	1740	broad.mit.edu	37	11	84028108	84028108	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:84028108C>T	ENST00000280241.8	-	1	80	c.81G>A	c.(79-81)ctG>ctA	p.L27L	DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398301.2_Silent_p.L27L|DLG2_ENST00000532653.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CATCCCTGATCAGGGTGGGCG	0.607000													54	3					0	0	0.000781405	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635733	141635733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:141635733C>T	ENST00000546910.1	-	5	422	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	CLEC5A_ENST00000438351.1_Missense_Mutation_p.E53K|CLEC5A_ENST00000551012.2_Missense_Mutation_p.E53K|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000439991.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	76					anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TGATAAAATTCCCAGTCTTTG	0.398000													17	1					0	0	0.000566183	0	0
DMXL1	1657	broad.mit.edu	37	5	118450180	118450180	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:118450180C>T	ENST00000311085.8	+	6	588	c.508C>T	c.(508-510)Caa>Taa	p.Q170*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.Q170*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	170										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AACTGCTTCCCAAGTTCATTT	0.289000													19	16					0	0	0.000229342	0	0
RNF123	63891	broad.mit.edu	37	3	49737767	49737767	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:49737767C>T	ENST00000327697.6	+	13	1236	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	RNF123_ENST00000432042.1_Silent_p.L218L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	364						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCCTGGACCTCTTGTGGCTCT	0.587000													12	23					0	0	0.000151284	0	0
DAB1	1600	broad.mit.edu	37	1	57499079	57499079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:57499079C>T	ENST00000420954.2	-	8	732	c.697G>A	c.(697-699)Gag>Aag	p.E233K	DAB1_ENST00000371236.2_Intron|DAB1_ENST00000371234.4_Intron|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371231.1_Missense_Mutation_p.E268K|DAB1_ENST00000485760.1_Intron|DAB1_ENST00000439789.2_Missense_Mutation_p.E149K			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	268					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCAAAAATCTCATCAAAGTCT	0.403000													36	77					0	0	0.000374591	0	0
ITPR1	3708	broad.mit.edu	37	3	4715049	4715049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:4715049C>T	ENST00000354582.6	+	21	2784	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	ITPR1_ENST00000456211.2_Missense_Mutation_p.P797S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.P812S|ITPR1_ENST00000423119.2_Missense_Mutation_p.P812S|ITPR1_ENST00000443694.2_Missense_Mutation_p.P797S|ITPR1_ENST00000302640.8_Missense_Mutation_p.P797S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	812					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTCGGAGATTCCCTCGGAGAT	0.537000													59	72					0	0	0.000781405	0	0
MECOM	2122	broad.mit.edu	37	3	168833417	168833417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:168833417C>T	ENST00000464456.1	-	7	2879	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	MECOM_ENST00000433243.2_Missense_Mutation_p.R561Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R748Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R560Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R625Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R560Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R561Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R560Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	70							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCATCCTTTCGCTTAGTGGT	0.517000													17	18					0	0	0.000958276	0	0
VSIG10	54621	broad.mit.edu	37	12	118517278	118517278	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:118517278G>A	ENST00000359236.5	-	4	1074	c.798C>T	c.(796-798)atC>atT	p.I266I		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	266	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						ACTTCCCCACGATTACACCTC	0.537000													36	20					0	0	0.000374591	0	0
CD53	963	broad.mit.edu	37	1	111435097	111435097	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:111435097T>A	ENST00000271324.5	+	3	306	c.194T>A	c.(193-195)gTa>gAa	p.V65E	CD53_ENST00000429072.2_Missense_Mutation_p.V65E	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	65					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATTATCATGGTAGTTGCCTTC	0.517000													23	67					0	0	0.000147802	0	0
OR8B3	390271	broad.mit.edu	37	11	124266609	124266609	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:124266609G>A	ENST00000354597.3	-	1	655	c.639C>T	c.(637-639)acC>acT	p.T213T		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAATGAGGATGGTACAACTGG	0.423000													41	4					0	0	0.000781405	0	0
DIP2B	57609	broad.mit.edu	37	12	51065067	51065067	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:51065067A>G	ENST00000301180.5	+	5	560	c.526A>G	c.(526-528)Aac>Gac	p.N176D		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	176	Ser-rich.					nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTCCTGGATCAACCGTTCAAT	0.532000													36	23					0	0	0.000953801	0	0
FER1L6	654463	broad.mit.edu	37	8	124989729	124989729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:124989729C>T	ENST00000522917.1	+	10	1149	c.943C>T	c.(943-945)Cct>Tct	p.P315S	FER1L6_ENST00000399018.1_Missense_Mutation_p.P315S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	315	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGAAATGTTCCCTCCCTTGTG	0.498000													79	47					0	0	0.000781405	0	0
RERGL	79785	broad.mit.edu	37	12	18237580	18237580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr12:18237580G>A	ENST00000229002.2	-	5	412	c.206C>T	c.(205-207)tCc>tTc	p.S69F	RERGL_ENST00000538724.1_Missense_Mutation_p.S68F|RERGL_ENST00000536890.1_Intron|RERGL_ENST00000541632.1_5'UTR	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	69	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						ACTTGTGAGGGAGAATTTTGC	0.378000													15	67					0	0	0.000566183	0	0
RASEF	158158	broad.mit.edu	37	9	85619421	85619421	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:85619421G>A	ENST00000376447.3	-	9	1454	c.1194C>T	c.(1192-1194)ggC>ggT	p.G398G		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	398					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACCTGTCATAGCCTAGAGGTT	0.338000													9	13					0	0	6.40141e-05	0	0
SLC12A4	6560	broad.mit.edu	37	16	67981622	67981622	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr16:67981622C>T	ENST00000422611.2	-	14	1962	c.1923G>A	c.(1921-1923)ctG>ctA	p.L641L	SLC12A4_ENST00000541864.2_Silent_p.L608L|SLC12A4_ENST00000338335.3_Silent_p.L639L|SLC12A4_ENST00000316341.3_Silent_p.L639L|SLC12A4_ENST00000537830.2_Silent_p.L633L|SLC12A4_ENST00000572037.1_Silent_p.L591L|SLC12A4_ENST00000576616.1_Silent_p.L639L	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	639					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCATGGCCACCAGGGCATAGT	0.617000													4	4					0	0	0.00024832	0	0
C19orf55	148137	broad.mit.edu	37	19	36250881	36250881	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr19:36250881C>T	ENST00000544099.1	+	3	363	c.300C>T	c.(298-300)tcC>tcT	p.S100S	C19orf55_ENST00000536950.1_Silent_p.S100S|C19orf55_ENST00000537459.1_Silent_p.S100S|C19orf55_ENST00000421853.2_Intron|C19orf55_ENST00000396908.4_Silent_p.S100S			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	100										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	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)			GCGGGGACTCCGTGGTGGCCA	0.597000													7	0					0	0	0.000157383	0	0
OR4M1	441670	broad.mit.edu	37	14	20248864	20248864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr14:20248864G>A	ENST00000315957.4	+	1	464	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTATCTGCCGACCCCTCCAC	0.512000													27	44					0	0	0.000147802	0	0
MLIP	90523	broad.mit.edu	37	6	54095550	54095550	+	Silent	SNP	T	T	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr6:54095550T>A	ENST00000502396.1	+	12	2789	c.2757T>A	c.(2755-2757)ccT>ccA	p.P919P	MLIP_ENST00000358276.5_Intron|MLIP_ENST00000274897.5_Silent_p.P384P|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000509997.1_Intron			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	384						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CGCTCCATCCTTTATATCAGA	0.488000													199	294					0	0	0.000781405	0	0
PCNT	5116	broad.mit.edu	37	21	47864701	47864701	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr21:47864701G>T	ENST00000359568.5	+	46	10041	c.9934G>T	c.(9934-9936)Gtg>Ttg	p.V3312L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3312					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCATTTAGAAGTGATCCAGCA	0.438000													11	50					9.31168e-06	0.000117865	0.000151284	1	0
BSN	8927	broad.mit.edu	37	3	49692023	49692023	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:49692023C>T	ENST00000296452.4	+	5	5148	c.5034C>T	c.(5032-5034)atC>atT	p.I1678I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1678					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCCCATCATCCTCACTGACC	0.617000													21	20					0	0	0.000229342	0	0
TBX10	347853	broad.mit.edu	37	11	67402375	67402375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:67402375G>A	ENST00000335385.3	-	3	376	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	97					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ACCTGGAAGGGGGGGAACATC	0.677000													14	31					0	0	0.000219431	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													4	54					0	0	0.00024832	0	0
FADS3	3995	broad.mit.edu	37	11	61643441	61643441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:61643441G>A	ENST00000278829.2	-	11	1320	c.1168C>T	c.(1168-1170)Ccc>Tcc	p.P390S	FADS3_ENST00000527697.1_Missense_Mutation_p.P275S|FADS3_ENST00000525588.1_Missense_Mutation_p.P362S|FADS3_ENST00000540820.1_3'UTR	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	390					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCATCCTGGGGAAGAGGCTG	0.657000													53	67					0	0	0.000781405	0	0
INVS	27130	broad.mit.edu	37	9	103002451	103002451	+	Missense_Mutation	SNP	C	C	T	rs2491097	byFrequency	TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:103002451C>T	ENST00000262457.2	+	6	910	c.725C>T	c.(724-726)tCa>tTa	p.S242L	INVS_ENST00000262456.2_Missense_Mutation_p.S242L|INVS_ENST00000541287.1_Missense_Mutation_p.S146L	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	242			S -> L (in dbSNP:rs2491097).		negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GTCTTGACCTCATATGAAAGC	0.438000													32	21					0	0	0.00058488	0	0
ATRNL1	26033	broad.mit.edu	37	10	117059641	117059641	+	Missense_Mutation	SNP	C	C	T	rs145512153		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:117059641C>T	ENST00000355044.3	+	16	2639	c.2513C>T	c.(2512-2514)cCt>cTt	p.P838L		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	838	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAGTGGCTTCCTGGCGAACCC	0.458000													26	18					0	0	0.000147802	0	0
TDGF1	6997	broad.mit.edu	37	3	46622733	46622733	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:46622733A>G	ENST00000296145.5	+	6	1293	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	TDGF1_ENST00000542931.1_Missense_Mutation_p.Y171C	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	187					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ATACAAAGCTACTATTAATCG	0.413000													48	63					0	0	0.000781405	0	0
SLC44A5	204962	broad.mit.edu	37	1	75707705	75707705	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:75707705C>T	ENST00000370855.5	-	9	626	c.513G>A	c.(511-513)gcG>gcA	p.A171A	SLC44A5_ENST00000535611.1_Silent_p.A41A|SLC44A5_ENST00000370859.3_Silent_p.A171A	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	171						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGGGAAAAATCGCTGTTGGAC	0.353000													7	2					0	0	0.000157383	0	0
FAAH	2166	broad.mit.edu	37	1	46860092	46860092	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:46860092G>A	ENST00000243167.8	+	1	156	c.72G>A	c.(70-72)gcG>gcA	p.A24A	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	24					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GCTTCGTGGCGGCGGCCGTGG	0.756000													5	1					0	0	0.000602214	0	0
C4orf21	55345	broad.mit.edu	37	4	113539802	113539802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:113539802C>A	ENST00000505019.1	-	6	1521	c.1396G>T	c.(1396-1398)Gga>Tga	p.G466*	C4orf21_ENST00000445203.2_Nonsense_Mutation_p.G435*|C4orf21_ENST00000309071.5_Nonsense_Mutation_p.G466*	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	466										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCCAGTGTTCCACATGTATTT	0.343000													7	177					0.000442599	0.00555891	0.000442599	1	0
EGFR	1956	broad.mit.edu	37	7	55231516	55231516	+	Splice_Site	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr7:55231516G>A	ENST00000275493.2	+	14	1899	c.1722_splice	c.e14+1	p.R574_splice	EGFR_ENST00000344576.2_Splice_Site_p.R574_splice|EGFR_ENST00000454757.2_Splice_Site_p.R521_splice|EGFR_ENST00000342916.3_Splice_Site_p.R574_splice|EGFR_ENST00000442591.1_Splice_Site_p.R574_splice|EGFR_ENST00000455089.1_Splice_Site_p.R529_splice	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	574					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCACAGGACGGGTAAGAGCCC	0.577000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			48	91					0	0	0.000781405	0	0
ENPEP	2028	broad.mit.edu	37	4	111397748	111397748	+	Silent	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:111397748C>T	ENST00000265162.5	+	1	520	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	60					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCCTTCCCACCTGCCTTCTTC	0.632000													56	75					0	0	0.000781405	0	0
NXF3	56000	broad.mit.edu	37	X	102334770	102334770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chrX:102334770G>A	ENST00000395065.3	-	13	1182	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Nonsense_Mutation_p.R33*	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	361	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AGACCCTGTCGATCTCCAGAG	0.522000													51	0					0	0	0.000781405	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393487	145393487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr5:145393487C>T	ENST00000511217.1	+	4	974	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	SH3RF2_ENST00000359120.4_Missense_Mutation_p.L308F			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	308							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGAACACTCTCAACCGGAT	0.587000													23	9					0	0	0.000375601	0	0
HERC2	8924	broad.mit.edu	37	15	28502305	28502305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr15:28502305G>A	ENST00000261609.7	-	17	2527	c.2419C>T	c.(2419-2421)Cgg>Tgg	p.R807W		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	807					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCACCTGCCGAAGCAGGAGA	0.562000													46	33					0	0	0.000781405	0	0
TGIF1	7050	broad.mit.edu	37	18	3457419	3457419	+	Silent	SNP	G	G	A			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr18:3457419G>A	ENST00000472042.1	+	2	1224	c.240G>A	c.(238-240)aaG>aaA	p.K80K	TGIF1_ENST00000400167.2_Silent_p.K80K|TGIF1_ENST00000330513.5_Silent_p.K229K|TGIF1_ENST00000551541.1_Silent_p.K80K|TGIF1_ENST00000401449.1_Silent_p.K80K|TGIF1_ENST00000577543.1_3'UTR|TGIF1_ENST00000407501.2_Silent_p.K100K|TGIF1_ENST00000343820.5_Silent_p.K100K|TGIF1_ENST00000405385.3_Silent_p.K80K|TGIF1_ENST00000548489.2_Silent_p.K114K|TGIF1_ENST00000345133.5_Silent_p.K80K			Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	229					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TGCTGAGAAAGGATGGCAAAG	0.488000													12	22					0	0	0.000151284	0	0
DBH	1621	broad.mit.edu	37	9	136501648	136501648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr9:136501648C>T	ENST00000393056.2	+	1	167	c.155C>T	c.(154-156)cCc>cTc	p.P52L		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	52					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TATCACATCCCCCTGGACCCG	0.642000													11	7					0	0	0.000219431	0	0
SPON1	10418	broad.mit.edu	37	11	14279389	14279389	+	RNA	SNP	C	C	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr11:14279389C>T	ENST00000310358.7	+	0	1972							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TCAGCGTCCCCTGCCCTGACA	0.637000													3	5					0	0	6.4e-05	0	0
FAM71A	149647	broad.mit.edu	37	1	212799484	212799484	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:212799484A>T	ENST00000294829.3	+	1	1696	c.1265A>T	c.(1264-1266)gAg>gTg	p.E422V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	422										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGCTGCAAGGAGGGGAGGGAA	0.622000													16	35					0	0	0.000422831	0	0
INADL	10207	broad.mit.edu	37	1	62235086	62235088	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:62235086_62235088delAGC	ENST00000371158.2	+	5	630_632	c.516_518delAGC	c.(514-519)gta>gt	p.VA172del	INADL_ENST00000316485.6_In_Frame_Del_p.VA172del	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	172	PDZ 1.				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						CAGGGAGTGTAGCAGACAGGTGA	0.399													23	115	---	---	---	---					
GPR88	54112	broad.mit.edu	37	1	101004847	101004847	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:101004847delG	ENST00000315033.4	+	2	764	c.325delG	c.(325-327)ggfs	p.G110fs		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	110						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		GGACGGCGCTGGGGGCAGCTA	0.726													2	4	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													5	2	---	---	---	---					
SLC45A3	85414	broad.mit.edu	37	1	205633709	205633713	+	Frame_Shift_Del	DEL	AGGTT	AGGTT	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr1:205633709_205633713delAGGTT	ENST00000367145.3	-	2	367_371	c.72_76delAACCT	c.(70-78)ctttfs	p.LTF24fs		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	24					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCAGGCCAAAGGTTAGCAGGTTGA	0.629			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								61	126	---	---	---	---					
CP	1356	broad.mit.edu	37	3	148901328	148901329	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr3:148901328_148901329delAC	ENST00000264613.6	-	13	2611_2612	c.2349_2350delGT	c.(2347-2352)gtatfs	p.VY783fs		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	783	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TACTGCCGATACACAACTTTCT	0.342													47	36	---	---	---	---					
TMPRSS11B	132724	broad.mit.edu	37	4	69095137	69095137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr4:69095137delA	ENST00000332644.5	-	8	945	c.784delT	c.(784-786)atfs	p.Y262fs		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	262	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GGACTGCTATAATTTTCATGA	0.343													16	46	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113662425	113662425	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr8:113662425delT	ENST00000297405.5	-	19	3402	c.3158delA	c.(3157-3159)acfs	p.N1053fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.N1013fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.N1053fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.N949fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1053	Sushi 5.					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						CCACCAGTGGTTTTTTTCGCA	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	205	---	---	---	---					
PTCHD3P1	387647	broad.mit.edu	37	10	29704398	29704398	+	RNA	DEL	T	T	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr10:29704398delT	ENST00000427063.2	+	0	143				PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000445521.1_RNA	NR_003930.1																						GCCTTTGGGCTTTTTTATCTA	0.363													2	4	---	---	---	---					
GRB2	2885	broad.mit.edu	37	17	73389691	73389691	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A3AD-06A-11D-A196-08	TCGA-EE-A3AD-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4b068a3-6f46-4540-8b62-66b26d100df3	a69efca9-8019-4d30-b604-ea4d0705de0f	g.chr17:73389691delA	ENST00000392562.1	-	2	801	c.19delT	c.(19-21)atfs	p.Y7fs	GRB2_ENST00000316804.5_Frame_Shift_Del_p.Y7fs|GRB2_ENST00000316615.5_Frame_Shift_Del_p.Y7fs|GRB2_ENST00000392564.1_Frame_Shift_Del_p.Y7fs|GRB2_ENST00000578961.1_Frame_Shift_Del_p.Y7fs|GRB2_ENST00000392563.1_Frame_Shift_Del_p.Y7fs			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	7	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTGAAGTCATATTTGGCGATG	0.562													91	138	---	---	---	---