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
SSPO	23145	broad.mit.edu	37	7	149477052	149477052	+	RNA	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:149477052C>T	ENST00000378016.2	+	0	1229							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCAGGTTTCCCCTGCTGAG	0.582000													7	24					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602069	58602069	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:58602069G>T	ENST00000287275.1	-	6	1108	c.718C>A	c.(718-720)Caa>Aaa	p.Q240K	GLYATL2_ENST00000532258.1_Missense_Mutation_p.Q240K	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	240						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TAACCAATTTGCAACATGTTG	0.408000													43	137					2.13384e-23	2.96726e-23	1	1	0
EXOC5	10640	broad.mit.edu	37	14	57676686	57676686	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:57676686C>G	ENST00000413566.2	-	16	2066	c.1707G>C	c.(1705-1707)ttG>ttC	p.L569F	EXOC5_ENST00000340918.7_Missense_Mutation_p.L504F	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	569					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TATATTGAATCAAAACATTGT	0.299000													5	19					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184093302	184093302	+	Splice_Site	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:184093302C>T	ENST00000204615.7	-	4	443		c.e4+1		THPO_ENST00000445696.2_Splice_Site|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Splice_Site	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin						cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCTTTCTTACCATCTGGGTT	0.473000													48	123					0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884102	39884102	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr22:39884102G>T	ENST00000341184.6	+	2	965	c.750G>T	c.(748-750)ccG>ccT	p.P250P		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	250					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					AGCCGCGGCCGCTCAAGTTCC	0.637000													40	87					2.54651e-27	3.63913e-27	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30936418	30936418	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:30936418C>G	ENST00000355537.3	+	2	2096	c.1949C>G	c.(1948-1950)tCc>tGc	p.S650C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTCGTGCACTCCCGTGTCCAC	0.662000													64	162					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704948	52704948	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:52704948A>T	ENST00000287727.3	+	4	2031	c.1859A>T	c.(1858-1860)aAa>aTa	p.K620I	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.K620I|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.K620I|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.K620I	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	620					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATTCTTGGGAAAGCAAAATTA	0.333000													56	131					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103427475	103427475	+	Splice_Site	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:103427475C>T	ENST00000358392.2	-	41	3468	c.3150_splice	c.e41-1	p.G1051_splice	COL11A1_ENST00000370096.3_Splice_Site_p.G1039_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G923_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1000_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1039	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGGTGCACCCTGGGAAAAG	0.388000													15	50					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158724743	158724743	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:158724743G>T	ENST00000368144.2	+	1	234	c.138G>T	c.(136-138)ccG>ccT	p.P46P		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CTATGTTCCCGCATGCGCACA	0.448000													188	185					8.37379e-70	1.34046e-69	1	1	0
SLC9A3	6550	broad.mit.edu	37	5	491990	491990	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:491990G>C	ENST00000264938.3	-	2	417	c.408C>G	c.(406-408)ttC>ttG	p.F136L	SLC9A3_ENST00000514375.1_Missense_Mutation_p.F136L	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	136						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGTTGCCGAAGAAGAGGCGGT	0.637000													10	31					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845387	62845387	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:62845387G>T	ENST00000512091.1	+	17	3455	c.2708G>T	c.(2707-2709)cGg>cTg	p.R903L	LPHN3_ENST00000506746.1_Missense_Mutation_p.R971L|LPHN3_ENST00000509896.1_Missense_Mutation_p.R971L|LPHN3_ENST00000514996.1_Missense_Mutation_p.R903L|LPHN3_ENST00000508693.1_Missense_Mutation_p.R971L|LPHN3_ENST00000514157.1_Missense_Mutation_p.R903L|LPHN3_ENST00000514591.1_Missense_Mutation_p.R903L|LPHN3_ENST00000504896.1_Missense_Mutation_p.R903L|LPHN3_ENST00000507164.1_Missense_Mutation_p.R971L|LPHN3_ENST00000506720.1_Missense_Mutation_p.R971L|LPHN3_ENST00000511324.1_Missense_Mutation_p.R971L|LPHN3_ENST00000507625.1_Missense_Mutation_p.R971L|LPHN3_ENST00000506700.1_Missense_Mutation_p.R903L|LPHN3_ENST00000545650.1_Missense_Mutation_p.R903L|LPHN3_ENST00000508946.1_Missense_Mutation_p.R903L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	890					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGCTTTTTCCGGGGGCTCCAG	0.493000													114	289					5.67068e-62	9.00766e-62	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													9	89					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226506	39226506	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:39226506C>A	ENST00000340369.3	-	2	4659	c.4431G>T	c.(4429-4431)caG>caT	p.Q1477H	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.Q160H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1477							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGCTTGCACCTGGTTCAGGA	0.647000													57	130					1.27862e-28	1.86597e-28	1	1	0
EARS2	124454	broad.mit.edu	37	16	23555995	23555995	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:23555995C>A	ENST00000449606.1	-	3	356	c.325G>T	c.(325-327)Ggc>Tgc	p.G109C	EARS2_ENST00000563459.1_Missense_Mutation_p.G109C|EARS2_ENST00000563232.1_Missense_Mutation_p.G109C|EARS2_ENST00000564501.1_Missense_Mutation_p.G109C|EARS2_ENST00000564987.1_Intron	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	109					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	GCAGGACCGCCCCGGCGGGGG	0.597000													10	28					0.000442599	0.000465124	1	1	0
KIF3B	9371	broad.mit.edu	37	20	30918002	30918002	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr20:30918002A>G	ENST00000375712.3	+	8	2194	c.2027A>G	c.(2026-2028)gAg>gGg	p.E676G	KIF3B_ENST00000418717.2_Missense_Mutation_p.E302G	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	676	Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGAGACTATGAGGGTCCAGCC	0.537000													7	74					0	0	1	0	0
POU3F1	5453	broad.mit.edu	37	1	38511635	38511635	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:38511635G>T	ENST00000373012.2	-	1	815	c.781C>A	c.(781-783)Cag>Aag	p.Q261K		NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	261	POU-specific.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGCTTGAACTGCTTGGCGAAC	0.692000													5	128					0.184627	0.185526	1	1	0
HELZ	9931	broad.mit.edu	37	17	65103323	65103323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:65103323G>A	ENST00000358691.5	-	31	5369	c.5203C>T	c.(5203-5205)Cga>Tga	p.R1735*	HELZ_ENST00000580168.1_Nonsense_Mutation_p.R1736*	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GATACTGTTCGAGATGACAAT	0.393000													5	320					0	0	1	0	0
HES3	390992	broad.mit.edu	37	1	6304617	6304617	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:6304617C>T	ENST00000377898.3	+	3	156	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	31	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		GATCCGGAAGCGCAAATTGGA	0.592000													13	52					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497208	1497208	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr8:1497208G>C	ENST00000421627.2	+	2	483	c.349G>C	c.(349-351)Gag>Cag	p.E117Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	196					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGACCAGTTCGAGAAGCAGCT	0.697000													5	26					0	0	1	0	0
DRAM1	55332	broad.mit.edu	37	12	102302116	102302116	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr12:102302116C>T	ENST00000258534.8	+	4	934	c.495C>T	c.(493-495)gcC>gcT	p.A165A	DRAM1_ENST00000544152.1_Intron	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	165					apoptosis|autophagy	integral to membrane|lysosomal membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TCATCTCTGCCGTTTCTTGCG	0.453000													41	133					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50685751	50685751	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:50685751G>T	ENST00000230658.7	+	4	1335	c.750G>T	c.(748-750)caG>caT	p.Q250H	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.Q250H	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	250	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				AGCAGCAGCAGCCCAATGACA	0.597000													20	46					2.89027e-11	3.38153e-11	1	1	0
SELP	6403	broad.mit.edu	37	1	169565180	169565180	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:169565180A>T	ENST00000263686.6	-	12	2121	c.2084T>A	c.(2083-2085)gTa>gAa	p.V695E	SELP_ENST00000367786.2_Missense_Mutation_p.V633E|SELP_ENST00000367794.2_Missense_Mutation_p.V633E|SELP_ENST00000367793.2_Missense_Mutation_p.V633E|SELP_ENST00000367791.2_Missense_Mutation_p.V509E|SELP_ENST00000367792.2_Missense_Mutation_p.V511E|SELP_ENST00000458599.2_Missense_Mutation_p.V511E|SELP_ENST00000367788.2_Missense_Mutation_p.V633E	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	695	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGCTGGAGTTACTGCTGTCCA	0.478000											OREG0004610	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=SELP|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	986	689					0	0	1	0	0
OTOR	56914	broad.mit.edu	37	20	16729544	16729544	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr20:16729544T>A	ENST00000246081.2	+	2	192	c.148T>A	c.(148-150)Tat>Aat	p.Y50N		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	50	SH3.				sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TCAAGAAGATTATAATGCCCC	0.353000													22	55					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48082040	48082040	+	Silent	SNP	A	A	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:48082040A>G	ENST00000264316.4	-	11	1147	c.1062T>C	c.(1060-1062)taT>taC	p.Y354Y	TXK_ENST00000507351.1_Silent_p.Y9Y	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	354	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCTCCCTGAGATAGTTAAGCA	0.413000													58	201					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198267481	198267481	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:198267481T>A	ENST00000335508.5	-	14	1967	c.1876A>T	c.(1876-1878)Aac>Tac	p.N626Y		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	626					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.N626Y(2)|p.N626D(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCTGTTGTGTTACGGACATAC	0.438000			Mis		myelodysplastic syndrome								26	63					0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110300772	110300772	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:110300772G>A	ENST00000414000.2	+	3	741	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	GPR6_ENST00000275169.3_Missense_Mutation_p.A153T			P46095	GPR6_HUMAN	G protein-coupled receptor 6	153						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GGCCTCCTTCGCCGCCTCTGT	0.617000													8	290					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97405605	97405605	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:97405605G>A	ENST00000264963.4	-	1	195	c.173C>T	c.(172-174)tCg>tTg	p.S58L	LMAN2L_ENST00000377079.4_Missense_Mutation_p.S58L|LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	58	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GTAGGGCTTCGACAGCGAGTG	0.627000													39	107					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42618506	42618506	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr18:42618506G>T	ENST00000282030.5	+	5	4353	c.4057G>T	c.(4057-4059)Ggc>Tgc	p.G1353C		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1353						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TAAGAACGAAGGCTCAGTGCC	0.493000									Schinzel-Giedion syndrome				23	88					5.49717e-05	5.85137e-05	1	1	0
WDR49	151790	broad.mit.edu	37	3	167248972	167248972	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:167248972C>T	ENST00000308378.3	-	9	1398	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	WDR49_ENST00000476376.1_Missense_Mutation_p.D190N|WDR49_ENST00000453925.2_Missense_Mutation_p.D429N|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	365										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						CCCTCAGTGTCAATCTCAAAG	0.413000													35	133					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30745018	30745018	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:30745018C>A	ENST00000262518.4	+	29	6778	c.6393C>A	c.(6391-6393)gaC>gaA	p.D2131E	SRCAP_ENST00000395059.2_Missense_Mutation_p.D2069E|SRCAP_ENST00000344771.4_Missense_Mutation_p.D1973E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2131	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGGAGCAGACACTGTTGTTT	0.522000													49	135					6.34439e-16	8.16272e-16	1	1	0
OR52M1	119772	broad.mit.edu	37	11	4566849	4566849	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:4566849G>T	ENST00000360213.1	+	1	429	c.429G>T	c.(427-429)gtG>gtT	p.V143V		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ATACAGTGGTGGGTCGTTTGG	0.527000													45	103					1.00001e-27	1.43903e-27	1	1	0
ZC3H13	23091	broad.mit.edu	37	13	46559839	46559839	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr13:46559839T>A	ENST00000242848.4	-	10	1661	c.1313A>T	c.(1312-1314)cAg>cTg	p.Q438L	ZC3H13_ENST00000282007.3_Missense_Mutation_p.Q438L			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	438	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GCTCTGATCCTGTTCATATTC	0.438000													53	166					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													5	105					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756818	49756818	+	Silent	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:49756818C>A	ENST00000535833.1	-	10	3531	c.81G>T	c.(79-81)ccG>ccT	p.P27P	RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.P27P			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	27	LRRNT.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGCACGGGGCGGGAAACCCT	0.647000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	194					1	1	1	1	0
OR14J1	442191	broad.mit.edu	37	6	29274539	29274539	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:29274539C>A	ENST00000377160.2	+	1	137	c.73C>A	c.(73-75)Cat>Aat	p.H25N		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCAGATTTTACATGCATTGGT	0.448000													110	144					2.59407e-49	4.04284e-49	1	1	0
LELP1	149018	broad.mit.edu	37	1	153177402	153177402	+	Silent	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:153177402C>G	ENST00000368747.1	+	2	329	c.219C>G	c.(217-219)ccC>ccG	p.P73P		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	73	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCCCAGCCCTGCACCAAGC	0.617000													38	189					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183913403	183913403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:183913403C>A	ENST00000361927.4	-	10	1695	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*	COLGALT2_ENST00000546159.1_Nonsense_Mutation_p.E442*|COLGALT2_ENST00000367520.3_Nonsense_Mutation_p.E179*|COLGALT2_ENST00000367521.1_Nonsense_Mutation_p.E50*	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		AACTGATGCTCAAAACGCACA	0.418000													30	221					7.38237e-10	8.39922e-10	1	1	0
POC1B-GALNT4	100528030	broad.mit.edu	37	12	89918896	89918896	+	Splice_Site	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr12:89918896C>T	ENST00000548729.1	-	2	403		c.e2+1		POC1B_ENST00000549504.1_Splice_Site|POC1B_ENST00000549035.1_Splice_Site|POC1B_ENST00000313546.3_Splice_Site|POC1B_ENST00000541909.1_Splice_Site|POC1B-GALNT4_ENST00000413530.1_Splice_Site|POC1B_ENST00000393179.4_Splice_Site|POC1B-GALNT4_ENST00000547474.1_Splice_Site	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1																					ATAAGACTTACCAAGTTGCTT	0.517000											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	82					0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	133087120	133087120	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chrX:133087120C>T	ENST00000370818.3	-	2	739	c.294G>A	c.(292-294)atG>atA	p.M98I	GPC3_ENST00000394299.2_Missense_Mutation_p.M98I|GPC3_ENST00000543339.1_Intron	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	98						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACTTGAGCTCCATACTTGCAG	0.433000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				257	106					0	0	1	0	0
ECHS1	1892	broad.mit.edu	37	10	135180498	135180498	+	Splice_Site	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr10:135180498C>A	ENST00000368547.3	-	5	870		c.e5-1			NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial						fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		CCGCCCGCACCTGCAGGGAGG	0.607000													11	38					0.00185496	0.00192972	1	1	0
GRIA2	2891	broad.mit.edu	37	4	158234012	158234012	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:158234012C>T	ENST00000296526.7	+	4	976	c.651C>T	c.(649-651)aaC>aaT	p.N217N	GRIA2_ENST00000507898.1_Silent_p.N170N|GRIA2_ENST00000393815.2_Silent_p.N170N|GRIA2_ENST00000449365.1_Silent_p.N170N|GRIA2_ENST00000264426.9_Silent_p.N217N	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	217					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N217N(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATAAAGTAAACGACATTGTAG	0.373000													9	201					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57113522	57113522	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:57113522C>A	ENST00000262510.6	+	46	5527	c.5302C>A	c.(5302-5304)Cct>Act	p.P1768T	NLRC5_ENST00000308149.7_Missense_Mutation_p.P1739T|NLRC5_ENST00000539144.1_Missense_Mutation_p.P1739T|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1768					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CACGAGCTGCCCTGCCCTGga	0.582000													58	156					1.22119e-34	1.86108e-34	1	1	0
HDLBP	3069	broad.mit.edu	37	2	242179464	242179464	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:242179464C>T	ENST00000391975.1	-	18	2470	c.2243G>A	c.(2242-2244)gGc>gAc	p.G748D	HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D|HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	748	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCGAATTTTGCCGCCCCCCTT	0.542000													5	234					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108861780	108861780	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr13:108861780T>C	ENST00000356922.4	-	2	2109	c.1837A>G	c.(1837-1839)Aaa>Gaa	p.K613E	LIG4_ENST00000442234.1_Missense_Mutation_p.K613E|LIG4_ENST00000405925.1_Missense_Mutation_p.K613E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	613					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TAAAGGTGTTTAGATGCGAGC	0.423000								Non-homologous end-joining					49	121					0	0	1	0	0
PRDX1	5052	broad.mit.edu	37	1	45981409	45981409	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:45981409G>A	ENST00000262746.1	-	3	516	c.177C>T	c.(175-177)ttC>ttT	p.F59F	PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000319248.8_Silent_p.F59F|PRDX1_ENST00000483583.1_5'UTR	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	59	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					CCCTATCACTGAAAGCAATGA	0.433000													37	114					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3100356	3100356	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr18:3100356G>A	ENST00000400569.3	-	24	3977	c.3644C>T	c.(3643-3645)aCt>aTt	p.T1215I	MYOM1_ENST00000356443.4_Missense_Mutation_p.T1215I|MYOM1_ENST00000261606.7_Missense_Mutation_p.T1119I			P52179	MYOM1_HUMAN	myomesin 1	1215	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TATTCCATCAGTGTCTGTTAC	0.358000													8	51					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97053782	97053782	+	Silent	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:97053782C>G	ENST00000326771.2	+	5	719	c.339C>G	c.(337-339)tcC>tcG	p.S113S	FHL5_ENST00000541107.1_Silent_p.S113S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	113	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		GTACAGGTTCCCGCAAAATGG	0.348000													14	55					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103410623	103410623	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:103410623C>G	ENST00000361246.2	-	30	4301	c.4013G>C	c.(4012-4014)aGg>aCg	p.R1338T		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1338	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCCAGAGTTCCTCTTGAGTGT	0.532000													4	124					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133815980	133815980	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:133815980G>A	ENST00000321016.8	-	2	468	c.238C>T	c.(238-240)Ccg>Tcg	p.P80S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P80S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	80	Ig-like 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCCACGTGCGGCGGGTAGTAG	0.622000													10	16					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116767928	116767928	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:116767928C>A	ENST00000375300.1	-	5	727	c.722G>T	c.(721-723)gGg>gTg	p.G241V	SIK3_ENST00000292055.4_Missense_Mutation_p.G183V|SIK3_ENST00000434315.2_Missense_Mutation_p.G82V|SIK3_ENST00000446921.2_Missense_Mutation_p.G241V|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.G183V			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	183	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CACTTTGGGCCCATCATATTC	0.493000													34	86					1.56738e-10	1.80817e-10	1	1	0
TEP1	7011	broad.mit.edu	37	14	20864037	20864037	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:20864037C>A	ENST00000262715.5	-	11	1771	c.1731G>T	c.(1729-1731)gaG>gaT	p.E577D	TEP1_ENST00000556935.1_Missense_Mutation_p.E469D	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	577	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)		TGAGTTGAGCCTCGAGGGCAT	0.468000													37	100					2.45108e-15	3.08627e-15	1	1	0
MMP9	4318	broad.mit.edu	37	20	44641106	44641106	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr20:44641106C>T	ENST00000372330.3	+	8	1234	c.1215C>T	c.(1213-1215)caC>caT	p.H405H		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	405					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	AGTTCGGCCACGCGCTGGGCT	0.642000													41	157					0	0	1	0	0
NOP58	51602	broad.mit.edu	37	2	203149196	203149196	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:203149196G>T	ENST00000264279.5	+	5	652	c.426G>T	c.(424-426)ttG>ttT	p.L142F	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	142					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GTCTTGGATTGGCTCACAGGT	0.373000													28	110					8.16721e-17	1.06071e-16	1	1	0
TINF2	26277	broad.mit.edu	37	14	24711492	24711492	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:24711492G>A	ENST00000399423.4	-	1	377	c.47C>T	c.(46-48)gCc>gTc	p.A16V	TINF2_ENST00000558566.1_Missense_Mutation_p.A16V|TINF2_ENST00000538777.1_5'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.A16V|TINF2_ENST00000267415.7_Missense_Mutation_p.A16V|TINF2_ENST00000558510.1_5'UTR|TINF2_ENST00000559019.1_Missense_Mutation_p.A16V	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	16					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GCTAGCCGCGGCGGCGAAGCG	0.687000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome		OREG0022621	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	98					0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128495	68128495	+	Silent	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:68128495C>A	ENST00000585558.1	+	4	760	c.372C>A	c.(370-372)ggC>ggA	p.G124G	KCNJ16_ENST00000283936.1_Silent_p.G89G|KCNJ16_ENST00000392670.1_Silent_p.G89G|KCNJ16_ENST00000589377.1_Silent_p.G89G|KCNJ16_ENST00000392671.1_Silent_p.G89G|KCNJ16_ENST00000586462.1_Silent_p.G128G			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	89					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)					TGATATTTGGCTCTGTCTTTT	0.418000													33	115					4.65686e-17	6.06714e-17	1	1	0
PHC1	1911	broad.mit.edu	37	12	9085944	9085944	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr12:9085944C>G	ENST00000433083.2	+	7	1901	c.1756C>G	c.(1756-1758)Ccg>Gcg	p.P586A	PHC1_ENST00000544916.1_Missense_Mutation_p.P631A|PHC1_ENST00000543824.1_Missense_Mutation_p.P631A|PHC1_ENST00000536844.1_Intron|PHC1_ENST00000433847.2_3'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	631					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TGTGCACTTGCCGGTGAGTGA	0.502000													7	20					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35403186	35403186	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr9:35403186G>T	ENST00000378495.3	+	37	4482	c.4260G>T	c.(4258-4260)gtG>gtT	p.V1420V	UNC13B_ENST00000396787.1_Silent_p.V1451V|UNC13B_ENST00000378496.4_Silent_p.V1439V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1420					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACGATCCTGTGGGAGAAGTCT	0.527000													31	89					4.65686e-17	6.06714e-17	1	1	0
GAS2L1	10634	broad.mit.edu	37	22	29706677	29706677	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr22:29706677T>C	ENST00000471961.1	+	3	1839	c.791T>C	c.(790-792)cTg>cCg	p.L264P	GAS2L1_ENST00000407647.2_Missense_Mutation_p.L264P|GAS2L1_ENST00000341313.6_Missense_Mutation_p.L264P|GAS2L1_ENST00000403764.1_Missense_Mutation_p.L264P|GAS2L1_ENST00000407854.1_Missense_Mutation_p.L264P|GAS2L1_ENST00000406549.3_Missense_Mutation_p.L264P|GAS2L1_ENST00000360113.2_Missense_Mutation_p.L264P			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	264	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						TGGGACACGCTGGAGCATTAC	0.697000													15	29					0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58072288	58072288	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:58072288C>G	ENST00000219271.3	+	3	1215	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	144					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CAACCACCATCTGACCTTTAG	0.662000													6	231					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121838357	121838357	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:121838357C>A	ENST00000330540.2	+	7	1082	c.966C>A	c.(964-966)tgC>tgA	p.C322*	CD86_ENST00000264468.5_Nonsense_Mutation_p.C109*|CD86_ENST00000493101.1_Nonsense_Mutation_p.C210*|CD86_ENST00000469710.1_Nonsense_Mutation_p.C240*|CD86_ENST00000393627.2_Nonsense_Mutation_p.C316*	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	322					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CATCTTCATGCGACAAAAGTG	0.343000													20	71					0.00188189	0.00195282	1	1	0
CSF1R	1436	broad.mit.edu	37	5	149459664	149459664	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:149459664C>A	ENST00000286301.3	-	4	834	c.543G>T	c.(541-543)atG>atT	p.M181I	CSF1R_ENST00000543093.1_Missense_Mutation_p.M181I	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	181	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCCTGCCACCCATCAGGGCAC	0.587000													40	107					6.5261e-18	8.5837e-18	1	1	0
OPN4	94233	broad.mit.edu	37	10	88416037	88416037	+	Silent	SNP	G	G	A	rs150600156		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr10:88416037G>A	ENST00000372071.2	+	2	497	c.270G>A	c.(268-270)acG>acA	p.T90T	OPN4_ENST00000241891.5_Silent_p.T90T	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	90					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCAACCTGACGGTCATCTATA	0.602000													60	175					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34821245	34821245	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:34821245C>T	ENST00000299505.6	+	7	2129	c.1256C>T	c.(1255-1257)gCt>gTt	p.A419V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	419										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TTTGGCCAGGCTGGACTGGTG	0.517000													9	78					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	887203	887203	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:887203C>A	ENST00000314167.4	-	9	1062	c.952G>T	c.(952-954)Gcc>Tcc	p.A318S	GAK_ENST00000511163.1_Missense_Mutation_p.A239S	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	318					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TTGCGGGCGGCCGCGATCTCC	0.667000													27	65					6.00712e-18	7.92633e-18	1	1	0
LENG8	114823	broad.mit.edu	37	19	54967576	54967576	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:54967576C>T	ENST00000326764.5	+	10	1856	c.1377C>T	c.(1375-1377)ccC>ccT	p.P459P	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	422							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGAACCCGCCCCCTAAGGGCC	0.672000													30	82					0	0	1	0	0
MUTYH	4595	broad.mit.edu	37	1	45798605	45798605	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:45798605G>T	ENST00000450313.1	-	6	704	c.489C>A	c.(487-489)gcC>gcA	p.A163A	MUTYH_ENST00000372098.3_Silent_p.A160A|MUTYH_ENST00000448481.1_Silent_p.A146A|MUTYH_ENST00000372115.3_Silent_p.A149A|MUTYH_ENST00000354383.6_Silent_p.A136A|MUTYH_ENST00000355498.2_Silent_p.A135A|MUTYH_ENST00000372110.3_Silent_p.A150A|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000372100.5_Silent_p.A146A|MUTYH_ENST00000456914.2_Silent_p.A135A|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000372104.1_Silent_p.A135A|MUTYH_ENST00000488731.2_Intron	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	160					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGGAAGCACTGGCCAGGTCCT	0.552000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				24	103					3.6726e-16	4.75481e-16	1	1	0
ZNF208	7757	broad.mit.edu	37	19	22155616	22155616	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:22155616C>A	ENST00000397126.4	-	4	2368	c.2220G>T	c.(2218-2220)aaG>aaT	p.K740N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_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)				TATGAATTACCTTATGTTTAG	0.363000													27	84					1.45844e-13	1.77157e-13	1	1	0
KMT2B	9757	broad.mit.edu	37	19	36229345	36229345	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:36229345C>T	ENST00000222270.7	+	37	8035	c.8035C>T	c.(8035-8037)Cgc>Tgc	p.R2679C	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.R2679C	NM_014727.1	NP_055542.1												p.R2681C(1)									CGCCCTGCGCCGCATCCTGCG	0.602000													20	64					0	0	1	0	0
IGLV4-69	28784	broad.mit.edu	37	22	22385611	22385611	+	RNA	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr22:22385611C>A	ENST00000390282.2	+	0	160				PRAMEF24P_ENST00000337471.4_RNA																							CTCTGCCTCCCTGGGAGCCTC	0.592000													33	79					3.76114e-14	4.63686e-14	1	1	0
USP53	54532	broad.mit.edu	37	4	120188600	120188600	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:120188600C>T	ENST00000450251.1	+	9	1642	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	USP53_ENST00000274030.6_Silent_p.I366I			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	366					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GGCAGGTCATCAGCTGGTCAC	0.383000													21	88					0	0	1	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757742	106757742	+	RNA	SNP	T	T	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:106757742T>G	ENST00000390611.2	-	0	288																											TTGGAGATGGTGAGCCTGCTC	0.532000													75	190					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997288	115997288	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:115997288C>A	ENST00000264363.2	-	2	1583	c.905G>T	c.(904-906)aGg>aTg	p.R302M		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	302	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAGGATGTACCTGTCCAAGGA	0.408000													54	148					4.17463e-26	5.90453e-26	1	1	0
PRDX6	9588	broad.mit.edu	37	1	173456971	173456971	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:173456971A>G	ENST00000340385.5	+	5	776	c.644A>G	c.(643-645)aAg>aGg	p.K215R	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	215					cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						CCATCTGGCAAGAAATACCTC	0.493000													68	164					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124761447	124761447	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:124761447C>T	ENST00000306534.3	-	12	2181	c.1696G>A	c.(1696-1698)Gac>Aac	p.D566N	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.D421N	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	566					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTTCGGGAGTCCCAGGAGAGC	0.597000													8	203					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56635170	56635170	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:56635170C>T	ENST00000389934.3	-	32	4546	c.4429G>A	c.(4429-4431)Gaa>Aaa	p.E1477K	TEX14_ENST00000584699.1_Intron|TEX14_ENST00000349033.5_Missense_Mutation_p.E1437K|TEX14_ENST00000240361.8_Missense_Mutation_p.E1483K	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1483						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)					CTGGATGATTCGGACCAACCT	0.338000													58	129					0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43204882	43204882	+	Missense_Mutation	SNP	C	C	T	rs140377812	byFrequency	TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr22:43204882C>T	ENST00000263245.5	-	13	1430	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	ARFGAP3_ENST00000437119.2_Missense_Mutation_p.R360H|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.R332H	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	404					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						ATCTGGCTTGCGGCGAGCAGT	0.373000													4	160					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53643586	53643586	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:53643586G>A	ENST00000452676.2	-	5	2924	c.2498C>T	c.(2497-2499)cCt>cTt	p.P833L	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.P833L|ZNF347_ENST00000334197.7_Missense_Mutation_p.P832L	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	832					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGGCTTGCAAGGTTTGAACTC	0.383000													51	182					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161134100	161134100	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:161134100T>A	ENST00000308192.9	+	5	553	c.490T>A	c.(490-492)Tgc>Agc	p.C164S	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	164	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGGGCCCTGGTGCTATACTAC	0.493000													98	197					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108288251	108288251	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:108288251G>C	ENST00000295746.8	-	9	1174	c.1098C>G	c.(1096-1098)ttC>ttG	p.F366L	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.F207L	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	366						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATATTTCCTTGAACAACTCCA	0.368000													12	46					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92446354	92446354	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:92446354A>T	ENST00000370389.2	+	9	2147	c.1223A>T	c.(1222-1224)aAg>aTg	p.K408M	BRDT_ENST00000402388.1_Missense_Mutation_p.K481M|BRDT_ENST00000399546.2_Missense_Mutation_p.K481M|BRDT_ENST00000394530.3_Missense_Mutation_p.K435M|BRDT_ENST00000362005.3_Missense_Mutation_p.K481M	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATGAGGCTAAAGGAAAAGTCC	0.284000													23	58					0	0	1	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70432338	70432338	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:70432338G>A	ENST00000393640.4	-	1	2203	c.96C>T	c.(94-96)gcC>gcT	p.A32A	ST3GAL2_ENST00000342907.2_Silent_p.A32A|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	32					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				AGGGGAGCGTGGCCATGCTGT	0.647000													6	87					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21975483	21975483	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:21975483G>A	ENST00000382254.1	-	6	1329	c.243C>T	c.(241-243)gaC>gaT	p.D81D	CDH12_ENST00000504376.2_Silent_p.D81D|CDH12_ENST00000522262.1_Silent_p.D81D	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	81	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCTTGTCTAAGTCGGAATGGA	0.443000										HNSCC(59;0.17)			42	147					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120810056	120810056	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr8:120810056G>C	ENST00000378164.2	-	7	1121	c.823C>G	c.(823-825)Cca>Gca	p.P275A		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	275					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCAGCAATGGAAGAAGTTGG	0.323000													4	109					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	102029276	102029276	+	Silent	SNP	A	A	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr13:102029276A>G	ENST00000251127.6	-	5	588	c.507T>C	c.(505-507)aaT>aaC	p.N169N	NALCN_ENST00000376200.5_Silent_p.N169N|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.N169N	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	169						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTTTAAAATATTTGTAATTC	0.383000													29	87					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51742804	51742804	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:51742804C>A	ENST00000262262.4	+	7	977	c.956C>A	c.(955-957)cCc>cAc	p.P319H	CD33_ENST00000421133.2_Missense_Mutation_p.P192H|CD33_ENST00000600557.1_3'UTR	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	319					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TTACATGGCCCCACTGAAACC	0.527000													24	57					1.85244e-09	2.09032e-09	1	1	0
ZNF221	7638	broad.mit.edu	37	19	44470960	44470960	+	Nonsense_Mutation	SNP	C	C	T	rs148293806		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:44470960C>T	ENST00000251269.5	+	6	1634	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZNF221_ENST00000592350.1_Nonsense_Mutation_p.R436*|ZNF221_ENST00000587682.1_Nonsense_Mutation_p.R436*	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TACAAATTCACGACGATCTTC	0.418000													45	100					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197890472	197890472	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:197890472G>A	ENST00000367390.3	+	4	416	c.389G>A	c.(388-390)gGc>gAc	p.G130D	LHX9_ENST00000561173.1_Missense_Mutation_p.G145D|LHX9_ENST00000367391.1_Missense_Mutation_p.G130D|LHX9_ENST00000337020.2_Missense_Mutation_p.G139D|LHX9_ENST00000367387.4_Missense_Mutation_p.G139D	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	139	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TGCCACCTTGGCATTTCCGCC	0.587000													54	160					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000													8	23					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424934	47424934	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:47424934C>G	ENST00000404338.3	+	1	3002	c.3002C>G	c.(3001-3003)tCa>tGa	p.S1001*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1001					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GAAGACACATCACTGCCTTCT	0.463000													8	110					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458791	248458791	+	Silent	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:248458791C>A	ENST00000317996.1	-	1	89	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AAACGGTGGCCAGAAGCATCA	0.502000													262	159					8.19007e-104	1.32129e-103	1	1	0
LCE1E	353135	broad.mit.edu	37	1	152760109	152760109	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:152760109C>A	ENST00000368770.3	+	2	387	c.334C>A	c.(334-336)Cag>Aag	p.Q112K	LCE1E_ENST00000368771.1_Missense_Mutation_p.Q112K	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	112	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGCAGCGGCCAGCACTCTGG	0.607000													10	308					0.000422831	0.000446622	1	1	0
COL26A1	136227	broad.mit.edu	37	7	101188641	101188641	+	RNA	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:101188641C>A	ENST00000313669.7	+	0	918				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		CTCCAGGGCCCCGTGGGCTTC	0.682000													12	37					0.000219431	0.000232372	1	1	0
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													5	168					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765365	18765365	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:18765365G>T	ENST00000304081.4	-	5	980	c.880C>A	c.(880-882)Cgc>Agc	p.R294S	NT5C1B_ENST00000600945.1_Missense_Mutation_p.R354S|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R354S|NT5C1B_ENST00000359846.2_Missense_Mutation_p.R354S	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)				TTGACGAAGCGGAACGCCGGG	0.582000													49	185					1.67211e-32	2.49307e-32	1	1	0
SLC9B1	150159	broad.mit.edu	37	4	103832677	103832677	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:103832677C>T	ENST00000296422.7	-	8	988	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Missense_Mutation_p.A283T	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	283						integral to membrane	solute:hydrogen antiporter activity										GAGGCTATGGCGTTATTAAGT	0.358000													14	73					0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369010	158369010	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:158369010G>A	ENST00000334438.1	-	1	246	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGGTGGACCAGCAGCTGAGGG	0.498000													20	98					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	206					0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386955	8386955	+	RNA	SNP	T	T	C	rs75997195		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr12:8386955T>C	ENST00000427893.2	-	0	811																											CTTGTGCTCCTGGCAGGCAGC	0.612000													8	314					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197297633	197297633	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:197297633A>G	ENST00000367400.3	+	2	287	c.152A>G	c.(151-153)gAc>gGc	p.D51G	CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.D51G|CRB1_ENST00000538660.1_Missense_Mutation_p.D51G	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	51	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTTTCAAAAGACAATGATTGT	0.373000													27	138					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94791272	94791272	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:94791272G>C	ENST00000289495.5	+	4	1959	c.1743G>C	c.(1741-1743)aaG>aaC	p.K581N	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.K581N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.K581N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.K581N|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.K581N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.K581N	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	581	PDZ.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAAACACCAAGGGCAACGTCA	0.363000										HNSCC(28;0.073)			13	30					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73789208	73789208	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:73789208C>T	ENST00000334126.7	-	23	4781	c.4555G>A	c.(4555-4557)Gac>Aac	p.D1519N	C2CD3_ENST00000313663.7_Missense_Mutation_p.D1519N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1519						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)					CTGGCCAGGTCCACATAGGCT	0.547000													22	176					0	0	1	0	0
LCE1D	353134	broad.mit.edu	37	1	152770592	152770592	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:152770592C>A	ENST00000326233.6	+	2	365	c.322C>A	c.(322-324)Cag>Aag	p.Q108K		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	108	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGCAGCAGCCAGCACTCTGG	0.622000													53	322					6.09941e-20	8.20539e-20	1	1	0
OR4N2	390429	broad.mit.edu	37	14	20296002	20296002	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:20296002A>C	ENST00000315947.1	+	1	395	c.395A>C	c.(394-396)tAt>tCt	p.Y132S	OR4N2_ENST00000568211.1_Missense_Mutation_p.Y132S	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTCTGCACTATCCTACTGTC	0.527000													7	250					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390154	48390154	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr10:48390154T>C	ENST00000224600.4	-	1	837	c.724A>G	c.(724-726)Atc>Gtc	p.I242V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	242	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)	ATGTGCGCGATGTCCTCGGCC	0.652000													24	79					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562000													4	64					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130300581	130300581	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:130300581C>A	ENST00000358511.6	+	8	3755	c.3724C>A	c.(3724-3726)Caa>Aaa	p.Q1242K	COL6A6_ENST00000453409.2_Missense_Mutation_p.Q1242K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1242	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTGGCTTTTCAAGTGACCAA	0.433000													40	96					8.16277e-20	1.08749e-19	1	1	0
OR2T12	127064	broad.mit.edu	37	1	248458726	248458726	+	Missense_Mutation	SNP	C	C	A	rs145453698		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:248458726C>A	ENST00000317996.1	-	1	154	c.155G>T	c.(154-156)cGg>cTg	p.R52L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CCTGTGGAGCCGGTGGTCCCA	0.542000													105	148					6.59513e-52	1.03961e-51	1	1	0
IL4R	3566	broad.mit.edu	37	16	27367205	27367205	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:27367205G>T	ENST00000395762.2	+	8	1006	c.747G>T	c.(745-747)ctG>ctT	p.L249L	IL4R_ENST00000380922.3_Silent_p.L234L|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Silent_p.L249L|IL4R_ENST00000543915.2_Silent_p.L249L	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	249					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCGTCTGCCTGTTGTGCTATG	0.627000													51	145					5.12918e-33	7.70309e-33	1	1	0
VWF	7450	broad.mit.edu	37	12	6128067	6128067	+	Nonsense_Mutation	SNP	G	G	T	rs61750100		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr12:6128067G>T	ENST00000261405.5	-	28	4771	c.4517C>A	c.(4516-4518)tCg>tAg	p.S1506*		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1506	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AATTTTGTCCGATCCTTCCAG	0.582000													16	47					1.01871e-10	1.17851e-10	1	1	0
LRFN1	57622	broad.mit.edu	37	19	39799011	39799011	+	Silent	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:39799011C>A	ENST00000248668.4	-	2	1577	c.1578G>T	c.(1576-1578)ccG>ccT	p.P526P		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	526						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGGCCCTCAGCGGGCGGCAGG	0.657000													13	34					1.49906e-05	1.60392e-05	1	1	0
ZNF235	9310	broad.mit.edu	37	19	44793056	44793056	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:44793056T>A	ENST00000291182.4	-	5	634	c.532A>T	c.(532-534)Aaa>Taa	p.K178*	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TTCGGAACTTTCCCAGTTGGA	0.358000													43	85					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10602581	10602581	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:10602581C>T	ENST00000171111.5	-	3	1544	c.997G>A	c.(997-999)Ggc>Agc	p.G333S	KEAP1_ENST00000393623.2_Missense_Mutation_p.G333S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	333			G -> C (in a NSCLC cell line; strongly reduces interaction with NFE2L2 and reduces repression of NFE2L2-dependent gene expression).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G333S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGGAAGTAGCCGCCCGCGGTG	0.677000													14	25					0	0	1	0	0
MYEOV	26579	broad.mit.edu	37	11	69062831	69062831	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:69062831A>G	ENST00000308946.3	+	2	460	c.10A>G	c.(10-12)Aga>Gga	p.R4G	MYEOV_ENST00000441339.2_Missense_Mutation_p.R4G|MYEOV_ENST00000535407.1_Intron	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	4										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		catggccctcagaatctgcgt	0.577000													7	22					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105656384	105656384	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:105656384G>T	ENST00000542731.1	+	11	1447	c.1339G>T	c.(1339-1341)Gtt>Ttt	p.V447F	CDHR3_ENST00000478080.1_Missense_Mutation_p.V359F|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.V447F|CDHR3_ENST00000343407.5_Missense_Mutation_p.V166F			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	447	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TAACGTCTACGTTTATATCCT	0.343000													7	27					0.0293803	0.0296677	1	1	0
CHKA	1119	broad.mit.edu	37	11	67833337	67833337	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:67833337G>C	ENST00000265689.4	-	9	1067	c.1041C>G	c.(1039-1041)ttC>ttG	p.F347L	CHKA_ENST00000356135.5_Missense_Mutation_p.F329L	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	347					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	TCCACTCACAGAAGTGATTTC	0.423000													5	108					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	4494967	4494967	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr8:4494967G>T	ENST00000520002.1	-	2	754	c.199C>A	c.(199-201)Cgc>Agc	p.R67S	CSMD1_ENST00000542608.1_Missense_Mutation_p.R67S|CSMD1_ENST00000537824.1_Missense_Mutation_p.R67S|CSMD1_ENST00000602723.1_Missense_Mutation_p.R67S|CSMD1_ENST00000539096.1_Missense_Mutation_p.R67S|CSMD1_ENST00000602557.1_Missense_Mutation_p.R67S|CSMD1_ENST00000400186.3_Missense_Mutation_p.R67S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	67	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCCTATTGCGCTCGCCCGTG	0.463000													46	123					2.01872e-29	2.96701e-29	1	1	0
RFX3	5991	broad.mit.edu	37	9	3266222	3266222	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr9:3266222T>C	ENST00000382004.3	-	13	1752	c.1441A>G	c.(1441-1443)Atg>Gtg	p.M481V	RFX3_ENST00000302303.1_Missense_Mutation_p.M481V|RFX3_ENST00000358730.2_Missense_Mutation_p.M481V	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	481					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTTTGTATCATTCTCTGTGGA	0.343000													25	56					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120188592	120188592	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:120188592C>T	ENST00000450251.1	+	9	1634	c.1090C>T	c.(1090-1092)Cag>Tag	p.Q364*	USP53_ENST00000274030.6_Nonsense_Mutation_p.Q364*			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	364					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGCACTCAGGCAGGTCATCAG	0.388000													22	86					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3447890	3447890	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:3447890C>T	ENST00000382774.3	+	10	1339	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	HGFAC_ENST00000511533.1_Silent_p.I415I	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	408	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCACGTATCATCGGCGGCT	0.706000													12	38					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059203	248059203	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:248059203G>T	ENST00000537741.1	+	3	572	c.315G>T	c.(313-315)ctG>ctT	p.L105L	OR2W3_ENST00000360358.3_Silent_p.L105L			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCTGTTCCTGGGTCTGGGTG	0.557000													68	215					4.08933e-50	6.39732e-50	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3245041	3245041	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr8:3245041C>A	ENST00000520002.1	-	19	3315	c.2760G>T	c.(2758-2760)tgG>tgT	p.W920C	CSMD1_ENST00000542608.1_Missense_Mutation_p.W919C|CSMD1_ENST00000537824.1_Missense_Mutation_p.W919C|CSMD1_ENST00000602723.1_Missense_Mutation_p.W920C|CSMD1_ENST00000539096.1_Missense_Mutation_p.W919C|CSMD1_ENST00000602557.1_Missense_Mutation_p.W920C|CSMD1_ENST00000400186.3_Missense_Mutation_p.W920C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	920	Sushi 5.					integral to membrane		p.W648*(1)|p.W919*(1)		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)		AGGCGTGGTTCCACTGGTGGT	0.587000													4	15					0.00909568	0.00927535	1	1	0
RHOJ	57381	broad.mit.edu	37	14	63757713	63757713	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:63757713G>C	ENST00000316754.3	+	5	1078	c.616G>C	c.(616-618)Gag>Cag	p.E206Q		NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	206					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ACGCTGTTCTGAGGGTCACAG	0.498000													11	160					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291100	141291100	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chrX:141291100G>T	ENST00000247452.3	-	3	1021	c.674C>A	c.(673-675)cCc>cAc	p.P225H		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	225	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGTTCTCGGGCATGCCCTC	0.507000										HNSCC(46;0.14)			89	192					2.5963e-48	4.00102e-48	1	1	0
C11orf35	256329	broad.mit.edu	37	11	557472	557472	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:557472C>T	ENST00000329451.3	-	7	702	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	214										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAATCCACGTCCTCCAGCCGA	0.607000													24	15					0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46443885	46443885	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:46443885G>T	ENST00000263257.5	-	4	909	c.715C>A	c.(715-717)Cca>Aca	p.P239T		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	239	Ala-rich.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCCGCGGCTGGCAGCACATCC	0.761000													9	16					0.00448238	0.00459361	1	1	0
OR5B12	390191	broad.mit.edu	37	11	58207305	58207305	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:58207305G>C	ENST00000302572.2	-	1	341	c.320C>G	c.(319-321)aCt>aGt	p.T107S		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACTTTCTGCAGTGATAAAGGC	0.443000													45	108					0	0	1	0	0
RGS16	6004	broad.mit.edu	37	1	182569642	182569642	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:182569642T>C	ENST00000367558.5	-	5	542	c.394A>G	c.(394-396)Att>Gtt	p.I132V		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	132	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						TCATGGTCAATGTTGACCTGC	0.587000													41	167					0	0	1	0	0
OR7A17	26333	broad.mit.edu	37	19	14992036	14992036	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:14992036G>T	ENST00000327462.2	-	1	228	c.132C>A	c.(130-132)ctC>ctA	p.L44L		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CCAGGATGATGAGCAGATTCC	0.498000													35	31					9.45814e-24	1.32414e-23	1	1	0
WDR64	128025	broad.mit.edu	37	1	241886730	241886730	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:241886730T>A	ENST00000366552.2	+	9	1363	c.1156T>A	c.(1156-1158)Tct>Act	p.S386T	WDR64_ENST00000437684.2_Missense_Mutation_p.S386T	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	386										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CAGCCTTTCCTCTGCAAAGGT	0.373000													87	51					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													4	243					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43428862	43428862	+	RNA	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:43428862G>C	ENST00000406070.2	-	0	1454					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				aatttacattgagttgtccaa	0.423000													14	57					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642350	104642350	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:104642350C>T	ENST00000315264.7	+	11	3186	c.2808C>T	c.(2806-2808)atC>atT	p.I936I	KIF26A_ENST00000423312.2_Silent_p.I1075I			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1075					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CAGTCAGCATCATCAGCAGCA	0.697000													4	14					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1097832	1097832	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:1097832C>A	ENST00000441003.2	+	36	6952	c.6925C>A	c.(6925-6927)Ccg>Acg	p.P2309T	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4671						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GACCAAGCGCCCGGCCGTCAC	0.667000													21	53					1.85244e-09	2.09032e-09	1	1	0
ALOXE3	59344	broad.mit.edu	37	17	8020298	8020298	+	Splice_Site	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:8020298C>G	ENST00000380149.1	-	2	646	c.615_splice	c.e2-1	p.V206_splice	ALOXE3_ENST00000448843.2_Splice_Site_p.V50_splice|ALOXE3_ENST00000318227.3_Splice_Site_p.V182_splice			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	50	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TACTTCTGTACCTGAGGGGAC	0.567000													8	34					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229620	74229620	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:74229620T>C	ENST00000316292.9	-	1	1121	c.130A>G	c.(130-132)Aag>Gag	p.K44E	EEF1A1_ENST00000331523.2_Missense_Mutation_p.K44E|EEF1A1_ENST00000309268.6_Missense_Mutation_p.K44E	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	44						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCAGCCTCCTTCTCAAATTTT	0.423000													13	138					0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130580453	130580453	+	Silent	SNP	G	G	T	rs117510900	by1000genomes	TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr9:130580453G>T	ENST00000344849.3	-	12	1912	c.1632C>A	c.(1630-1632)acC>acA	p.T544T	ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000373203.4_Silent_p.T544T			P17813	EGLN_HUMAN	endoglin	544	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TGAGGGTGCCGGTTTTGGGTA	0.647000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				28	84					1.77063e-15	2.2363e-15	1	1	0
SNX20	124460	broad.mit.edu	37	16	50707702	50707702	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:50707702A>T	ENST00000330943.4	-	4	737	c.566T>A	c.(565-567)cTg>cAg	p.L189Q	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	189	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						AGCCTCGCGCAGCTCCGGCCG	0.736000													5	18					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34420400	34420400	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr10:34420400C>A	ENST00000374789.3	-	23	3865	c.3540G>T	c.(3538-3540)gaG>gaT	p.E1180D	PARD3_ENST00000374794.3_Missense_Mutation_p.E1068D|PARD3_ENST00000374788.3_Missense_Mutation_p.E1177D|PARD3_ENST00000545260.1_Missense_Mutation_p.E1090D|PARD3_ENST00000346874.4_Missense_Mutation_p.E1143D|PARD3_ENST00000545693.1_Missense_Mutation_p.E1164D|PARD3_ENST00000374790.3_Missense_Mutation_p.E1120D|PARD3_ENST00000350537.4_Missense_Mutation_p.E1134D	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1180					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)				CCCAGGGTTGCTCAAAACTAT	0.468000													28	85					4.22769e-11	4.93231e-11	1	1	0
PSG5	5673	broad.mit.edu	37	19	43679578	43679578	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:43679578G>C	ENST00000404580.1	-	4	841	c.753C>G	c.(751-753)taC>taG	p.Y251*	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Nonsense_Mutation_p.Y344*|PSG5_ENST00000366175.3_Nonsense_Mutation_p.Y251*|PSG5_ENST00000342951.6_Nonsense_Mutation_p.Y251*|PSG5_ENST00000407356.1_Nonsense_Mutation_p.Y251*			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	251	Ig-like C2-type 2.				female pregnancy	extracellular region		p.Y251Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTCCTGAACGGTAATAGGTGA	0.478000													107	291					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17326506	17326506	+	Splice_Site	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:17326506C>G	ENST00000452699.1	-	11	1213	c.1024_splice	c.e11+1	p.G342_splice	ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Splice_Site_p.G342_splice|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Splice_Site_p.G347_splice	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	347					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGGGGCTCACCTGTCAGAGAG	0.607000													17	31					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42457975	42457975	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr15:42457975G>A	ENST00000318006.5	-	17	1882	c.1720C>T	c.(1720-1722)Cgt>Tgt	p.R574C	VPS39_ENST00000348544.4_Missense_Mutation_p.R585C	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	585					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTCGATCACGTGGCAGAGAC	0.438000													34	123					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554409	140554409	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:140554409G>T	ENST00000231137.3	+	1	2167	c.1993G>T	c.(1993-1995)Ggc>Tgc	p.G665C		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		665	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGTGGACGGCTTCTCCCA	0.701000													61	424					3.13765e-25	4.4227e-25	1	1	0
RB1CC1	9821	broad.mit.edu	37	8	53558357	53558357	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr8:53558357C>A	ENST00000025008.5	-	16	4415	c.3892G>T	c.(3892-3894)Gaa>Taa	p.E1298*	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.E1298*|RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.E1298*	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1298					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTAGCTTTTTCTTCCTGAAGC	0.348000													33	85					1.56442e-22	2.14653e-22	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11132438	11132438	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:11132438G>T	ENST00000358026.2	+	19	2938	c.2654G>T	c.(2653-2655)cGc>cTc	p.R885L	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R885L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R885L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R885L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R885L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R885L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R885L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R885L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R885L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	885	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAAGGTCACCGCATGAAGAAC	0.622000			"""F, N, Mis"""		NSCLC								8	40					0.000157383	0.000167093	1	1	0
SDHA	6389	broad.mit.edu	37	5	225612	225612	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:225612G>T	ENST00000264932.6	+	4	506	c.391G>T	c.(391-393)Gac>Tac	p.D131Y	SDHA_ENST00000504309.1_Missense_Mutation_p.D131Y|SDHA_ENST00000510361.1_Intron	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	131					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GAAGGGCTCCGACTGGCTGGG	0.617000									Familial Paragangliomas				42	119					8.16277e-20	1.08749e-19	1	1	0
CR2	1380	broad.mit.edu	37	1	207644833	207644833	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:207644833G>C	ENST00000367057.3	+	9	1748	c.1559G>C	c.(1558-1560)cGt>cCt	p.R520P	CR2_ENST00000367058.3_Missense_Mutation_p.R520P|CR2_ENST00000458541.2_Intron|CR2_ENST00000367059.3_Missense_Mutation_p.R520P	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	520	Sushi 8.				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						ATGGAGATTCGTCTTTGTAAA	0.378000													177	116					0	0	1	0	0
BCKDHB	594	broad.mit.edu	37	6	80881011	80881011	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:80881011A>G	ENST00000320393.6	+	6	693	c.646A>G	c.(646-648)Aga>Gga	p.R216G	BCKDHB_ENST00000356489.5_Missense_Mutation_p.R216G|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	216					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GGTTATACCCAGAAGCCCTTT	0.343000													16	35					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52402841	52402841	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:52402841G>T	ENST00000420323.2	+	37	6111	c.5850G>T	c.(5848-5850)ccG>ccT	p.P1950P		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1950	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGATGGGCCGGTGGATGCCA	0.572000													86	246					2.01309e-51	3.16124e-51	1	1	0
EEF1A1	1915	broad.mit.edu	37	6	74229616	74229616	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:74229616T>G	ENST00000316292.9	-	1	1125	c.134A>C	c.(133-135)gAg>gCg	p.E45A	EEF1A1_ENST00000331523.2_Missense_Mutation_p.E45A|EEF1A1_ENST00000309268.6_Missense_Mutation_p.E45A	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	45						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CTCAGCAGCCTCCTTCTCAAA	0.423000													13	135					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67555484	67555484	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr15:67555484G>T	ENST00000335894.4	+	3	265	c.199G>T	c.(199-201)Gtt>Ttt	p.V67F	IQCH_ENST00000512104.1_Missense_Mutation_p.V67F|IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	67										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GTATTTAAATGTTGTAAACCA	0.328000													19	51					1.2644e-06	1.38148e-06	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49671979	49671979	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:49671979C>A	ENST00000561648.1	-	4	1137	c.1084G>T	c.(1084-1086)Ggc>Tgc	p.G362C	ZNF423_ENST00000563137.2_Missense_Mutation_p.G302C|ZNF423_ENST00000262383.2_Missense_Mutation_p.G362C|ZNF423_ENST00000567169.1_Missense_Mutation_p.G245C|ZNF423_ENST00000535559.1_Missense_Mutation_p.G245C|ZNF423_ENST00000562871.1_Missense_Mutation_p.G302C|ZNF423_ENST00000562520.1_Missense_Mutation_p.G302C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	362					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCCACGCTGCCCAGTACAGGG	0.662000													12	47					1.61879e-10	1.86229e-10	1	1	0
FLG2	388698	broad.mit.edu	37	1	152327479	152327479	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:152327479C>T	ENST00000388718.5	-	3	2855	c.2783G>A	c.(2782-2784)gGc>gAc	p.G928D	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	928	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACTTGAGCCAGAACCATG	0.478000													164	907					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80635962	80635962	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:80635962G>T	ENST00000369816.4	-	2	537	c.237C>A	c.(235-237)ctC>ctA	p.L79L		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	79					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TATAGATAATGAGCACTAGAC	0.368000													21	54					9.95505e-16	1.26506e-15	1	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													6	285					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654189	46654189	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr22:46654189G>A	ENST00000253255.5	-	1	5030	c.5031C>T	c.(5029-5031)atC>atT	p.I1677I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1677					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGATTCGGACGATCTGGTCAT	0.423000													54	100					0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135942012	135942012	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr9:135942012G>T	ENST00000372080.4	+	5	659	c.643G>T	c.(643-645)Ggg>Tgg	p.G215W	CEL_ENST00000351304.7_Missense_Mutation_p.G212W	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	212					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CACGCTCTTCGGGGAGTCTGC	0.617000													103	236					2.12867e-53	3.36835e-53	1	1	0
TTC12	54970	broad.mit.edu	37	11	113237006	113237006	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:113237006A>T	ENST00000529221.1	+	22	2207	c.2102A>T	c.(2101-2103)tAc>tTc	p.Y701F	TTC12_ENST00000483239.2_Missense_Mutation_p.Y707F|TTC12_ENST00000393020.1_Intron|TTC12_ENST00000314756.3_Intron	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	701							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		ACGATGAAATACATCAGTGAT	0.423000													35	115					0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63049747	63049747	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:63049747C>A	ENST00000439174.2	-	2	628	c.383G>T	c.(382-384)cGg>cTg	p.R128L	GNA13_ENST00000541118.1_Missense_Mutation_p.R33L	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	128					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CATGGGGGCCCGGGTATCAAA	0.488000													69	173					3.07281e-33	4.64862e-33	1	1	0
FOXK2	3607	broad.mit.edu	37	17	80559374	80559374	+	Nonstop_Mutation	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:80559374A>T	ENST00000335255.5	+	9	2156	c.1982A>T	c.(1981-1983)tAg>tTg	p.*661L	FOXK2_ENST00000529652.1_3'UTR	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	0					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GTCCAGAACTAGCGACCGGGA	0.602000													17	61					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383000													4	167					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649835	47649835	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:47649835C>T	ENST00000398742.2	+	5	1385	c.1336C>T	c.(1336-1338)Cac>Tac	p.H446Y	GPR111_ENST00000296862.1_Missense_Mutation_p.H514Y|GPR111_ENST00000507065.1_Missense_Mutation_p.H446Y			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	514					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCCAATAACACACCACAAGGG	0.433000													44	58					0	0	1	0	0
IFNA8	3445	broad.mit.edu	37	9	21409567	21409567	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr9:21409567A>T	ENST00000380205.1	+	1	422	c.392A>T	c.(391-393)gAg>gTg	p.E131V		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	131					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		GGGGTGATAGAGTCTCCCCTG	0.483000													63	232					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124385987	124385987	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:124385987G>A	ENST00000360013.3	+	47	6784	c.6657G>A	c.(6655-6657)caG>caA	p.Q2219Q	KALRN_ENST00000291478.4_Silent_p.Q522Q|KALRN_ENST00000459915.1_Silent_p.Q311Q|KALRN_ENST00000393496.1_Silent_p.Q560Q|KALRN_ENST00000428018.2_Silent_p.Q490Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2218	PH 2.				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						CCTGGGTGCAGGACATCAATC	0.532000													5	83					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236243	21236243	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:21236243G>A	ENST00000233242.1	-	25	4132	c.4005C>T	c.(4003-4005)ttC>ttT	p.F1335F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1335					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)	TAGGGACTTGGAACTCTCGAG	0.473000													44	129					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947027	165947027	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:165947027A>T	ENST00000360093.3	-	28	6127	c.5636T>A	c.(5635-5637)aTg>aAg	p.M1879K	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.M1830K|SCN3A_ENST00000283254.7_Missense_Mutation_p.M1879K|SCN3A_ENST00000540861.1_Missense_Mutation_p.M362K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1879						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTTGATGCCATAAACCTGTC	0.433000													33	76					0	0	1	0	0
RP9	6100	broad.mit.edu	37	7	33139017	33139017	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:33139017G>C	ENST00000297157.3	-	3	232	c.215C>G	c.(214-216)cCa>cGa	p.P72R		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	72	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	p.P72R(2)		large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			TGGTACATCTGGTATGCAATC	0.483000													5	146					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056418	9056418	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:9056418G>T	ENST00000397910.4	-	3	31231	c.31028C>A	c.(31027-31029)tCa>tAa	p.S10343*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10345	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						TGGGATGGTTGAAGAATCAGT	0.527000													28	86					9.39395e-14	1.14784e-13	1	1	0
CNKSR2	22866	broad.mit.edu	37	X	21450746	21450746	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chrX:21450746C>A	ENST00000425654.2	+	3	725	c.245C>A	c.(244-246)aCa>aAa	p.T82K	CNKSR2_ENST00000279451.4_Missense_Mutation_p.T82K|CNKSR2_ENST00000543067.1_Missense_Mutation_p.T82K|CNKSR2_ENST00000379510.3_Missense_Mutation_p.T82K	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	82					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGCTTGGAAACAGAAAATCTA	0.313000													9	118					2.27111e-07	2.50794e-07	1	1	0
INTS5	80789	broad.mit.edu	37	11	62416148	62416148	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:62416148G>A	ENST00000330574.2	-	2	1456	c.1404C>T	c.(1402-1404)ccC>ccT	p.P468P		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	468					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GCACCAAGCGGGGAGGTGGGG	0.597000													64	180					0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205652	36205652	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:36205652G>A	ENST00000392197.2	+	3	442	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	ZBTB32_ENST00000262630.3_Missense_Mutation_p.A42T			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	42	BTB.				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAGTTCCCCGCCCACAGCCT	0.647000													37	112					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230503892	230503892	+	Splice_Site	SNP	T	T	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:230503892T>A	ENST00000321327.2	-	2	124		c.e2-2		PGBD5_ENST00000391860.1_Intron|PGBD5_ENST00000525115.1_Intron			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5							integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGGAGGAGGCTGCGGAGGAGG	0.493000													115	76					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55141105	55141105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:55141105C>A	ENST00000257290.5	+	12	2082	c.1751C>A	c.(1750-1752)tCa>tAa	p.S584*	FIP1L1_ENST00000507166.1_Nonsense_Mutation_p.S344*	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	584					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCTTATGACTCAAGATGGGAG	0.443000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			37	110					2.26627e-22	3.09924e-22	1	1	0
RPS6KA5	9252	broad.mit.edu	37	14	91413824	91413824	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:91413824C>G	ENST00000261991.3	-	4	638	c.465G>C	c.(463-465)caG>caC	p.Q155H	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.Q155H|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.Q76H	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	155	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CAACATAAATCTGCACCTCAT	0.343000													4	185					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53516940	53516940	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:53516940A>G	ENST00000370905.3	-	3	1501	c.1361T>C	c.(1360-1362)gTg>gCg	p.V454A	KLHL31_ENST00000407079.1_Missense_Mutation_p.V454A	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCAGCGCGCCACCTCCAGGGG	0.697000													27	62					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44839157	44839157	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr20:44839157C>G	ENST00000372262.3	-	6	1475	c.1075G>C	c.(1075-1077)Gag>Cag	p.E359Q	CDH22_ENST00000537909.1_Missense_Mutation_p.E359Q|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	359	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TTGAGGGCCTCCAGGATCACG	0.687000													7	82					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1331519	1331519	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chrX:1331519C>T	ENST00000381567.3	-	1	8	c.9G>A	c.(7-9)cgG>cgA	p.R3R	CRLF2_ENST00000381566.1_Silent_p.R3R|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	3						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCAGAACCAGCCGCCCCATGC	0.517000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								11	39					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149901000	149901000	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:149901000G>T	ENST00000261797.6	+	2	686	c.184G>T	c.(184-186)Gtg>Ttg	p.V62L	NDST1_ENST00000523767.1_Missense_Mutation_p.V62L	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	62	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCGCCGCCTGTGGCCCCCAG	0.657000													41	122					2.47872e-24	3.48202e-24	1	1	0
GFOD1	54438	broad.mit.edu	37	6	13486957	13486957	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:13486957C>T	ENST00000379287.3	-	1	830	c.166G>A	c.(166-168)Gat>Aat	p.D56N	GFOD1_ENST00000603223.1_Missense_Mutation_p.D56N|GFOD1-AS1_ENST00000446001.1_RNA	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	56						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			AGCACCTCATCAATGCGGCTA	0.612000													61	228					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112506489	112506489	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:112506489C>T	ENST00000230538.7	-	9	1424	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	LAMA4_ENST00000424408.2_Missense_Mutation_p.E336K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E336K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E336K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	343	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATCGTGTTCTCAGCATTGTTG	0.383000													11	241					0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2829332	2829332	+	Silent	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chrY:2829332C>A	ENST00000155093.3	+	3	600	c.279C>A	c.(277-279)gtC>gtA	p.V93V	ZFY_ENST00000383052.1_Silent_p.V93V|ZFY_ENST00000431102.1_Intron|ZFY_ENST00000449237.1_Silent_p.V67V	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						CTGAAAATGTCATCATTCCTG	0.403000													96	64					1.80868e-48	2.79769e-48	1	1	0
LRTM1	57408	broad.mit.edu	37	3	54959211	54959211	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:54959211G>T	ENST00000273286.5	-	2	201	c.39C>A	c.(37-39)gtC>gtA	p.V13V	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_5'UTR|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	13						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CCTGGAGCAGGACAATCACAC	0.493000													13	62					1.5842e-08	1.7731e-08	1	1	0
NFASC	23114	broad.mit.edu	37	1	204937425	204937425	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:204937425C>A	ENST00000367172.4	+	9	1083	c.755C>A	c.(754-756)aCc>aAc	p.T252N	NFASC_ENST00000367170.4_Missense_Mutation_p.T252N|NFASC_ENST00000367171.4_Missense_Mutation_p.T252N|NFASC_ENST00000401399.1_Missense_Mutation_p.T252N|NFASC_ENST00000360049.4_Missense_Mutation_p.T263N|NFASC_ENST00000367169.4_Missense_Mutation_p.T252N|NFASC_ENST00000403080.1_Missense_Mutation_p.T252N|NFASC_ENST00000339876.6_Missense_Mutation_p.T252N|NFASC_ENST00000338515.6_Missense_Mutation_p.T252N|NFASC_ENST00000539706.1_Missense_Mutation_p.T263N|NFASC_ENST00000338586.6_Missense_Mutation_p.T252N|NFASC_ENST00000513543.1_Missense_Mutation_p.T263N|NFASC_ENST00000404076.1_Missense_Mutation_p.T246N|NFASC_ENST00000404907.1_Missense_Mutation_p.T263N			O94856	NFASC_HUMAN	neurofascin	252	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCCAGGGCACCGCGAGCAGC	0.587000													33	312					3.66082e-28	5.28642e-28	1	1	0
NELL1	4745	broad.mit.edu	37	11	21592356	21592356	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:21592356C>G	ENST00000298925.5	+	19	2264	c.2111C>G	c.(2110-2112)cCa>cGa	p.P704R	NELL1_ENST00000325319.5_Missense_Mutation_p.P619R|NELL1_ENST00000532434.1_Missense_Mutation_p.P629R|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.P676R			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	676	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGCCAGAATCCAAGTGCTGAC	0.438000													45	122					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50394958	50394958	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr12:50394958G>A	ENST00000434422.1	-	8	928	c.627C>T	c.(625-627)gaC>gaT	p.D209D	RACGAP1_ENST00000551016.1_Silent_p.D209D|RACGAP1_ENST00000547905.1_Silent_p.D209D|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000454520.2_Silent_p.D209D|RACGAP1_ENST00000427314.2_Silent_p.D209D|RACGAP1_ENST00000312377.5_Silent_p.D209D			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	209	Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTCTTACCTGGTCTACTGCAG	0.468000													11	57					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054138	29054138	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:29054138A>T	ENST00000377173.2	-	1	952	c.888T>A	c.(886-888)gaT>gaA	p.D296E		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CCTCCTTCATATCTTTATTTC	0.398000													11	76					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170934354	170934354	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:170934354C>G	ENST00000367759.4	+	7	592	c.438C>G	c.(436-438)atC>atG	p.I146M	MROH9_ENST00000367758.3_Missense_Mutation_p.I146M	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TGGTGATCATCAACAAGGTGT	0.368000													56	230					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274226	74274226	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:74274226C>T	ENST00000409262.3	+	1	777	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	259							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCCCCTTTCAGATCTCCCC	0.602000													4	127					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039649	31039649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:31039649C>A	ENST00000355537.3	+	4	3270	c.3123C>A	c.(3121-3123)tgC>tgA	p.C1041*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1041					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGTCAACTGCAAAGACCAAG	0.542000													31	116					2.80507e-11	3.29118e-11	1	1	0
BCL9	607	broad.mit.edu	37	1	147087647	147087647	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:147087647C>G	ENST00000234739.3	+	7	1345	c.605C>G	c.(604-606)tCt>tGt	p.S202C	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	202					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ACTATCGTCTCTTTCCACATC	0.413000			T	"""IGH@, IGL@"""	B-ALL								24	126					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509302	106509302	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:106509302G>T	ENST00000359195.3	+	2	1606	c.1296G>T	c.(1294-1296)caG>caT	p.Q432H	PIK3CG_ENST00000496166.1_Missense_Mutation_p.Q432H|PIK3CG_ENST00000440650.2_Missense_Mutation_p.Q432H	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	432					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGAACCTCCAGATCTACTGCG	0.517000													42	111					2.215e-12	2.62873e-12	1	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55027316	55027316	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr18:55027316C>A	ENST00000324000.3	+	4	2985	c.951C>A	c.(949-951)caC>caA	p.H317Q		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	317					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AAGAGATCCACTTGTATGGAT	0.418000													35	72					9.8876e-21	1.3345e-20	1	1	0
PPEF2	5470	broad.mit.edu	37	4	76809404	76809404	+	Silent	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:76809404C>A	ENST00000286719.7	-	6	851	c.495G>T	c.(493-495)cgG>cgT	p.R165R		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	165	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGTTGAGACCCGGTTGATGT	0.493000													15	165					2.215e-12	2.62873e-12	1	1	0
ACSBG2	81616	broad.mit.edu	37	19	6156530	6156530	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:6156530G>C	ENST00000588304.1	+	5	771	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	ACSBG2_ENST00000588485.1_Intron|ACSBG2_ENST00000591403.1_Missense_Mutation_p.E159Q|ACSBG2_ENST00000586696.1_Missense_Mutation_p.E159Q|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E159Q			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	159					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGCTGGTTGAGAATGATCA	0.488000													4	177					0	0	1	0	0
TRAPPC4	51399	broad.mit.edu	37	11	118889681	118889681	+	Splice_Site	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:118889681G>A	ENST00000533632.1	+	1	539		c.e1+1		TRAPPC4_ENST00000359005.4_Splice_Site|TRAPPC4_ENST00000528230.1_Splice_Site|TRAPPC4_ENST00000525303.1_Splice_Site|TRAPPC4_ENST00000533058.1_Splice_Site|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000434101.2_Splice_Site	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGCATCCGAGGTGGGCTAGGC	0.627000													5	106					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236738176	236738176	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:236738176C>G	ENST00000366582.3	-	23	3226	c.3112G>C	c.(3112-3114)Gct>Cct	p.A1038P	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1038					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGTTGTTCAGCCATAGGCAAT	0.408000													19	124					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21674752	21674752	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chrX:21674752G>T	ENST00000379499.2	-	1	1696	c.1155C>A	c.(1153-1155)gcC>gcA	p.A385A		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	385										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCGAGTCGTCGGCCAGGGGAG	0.677000													8	14					1.12685e-05	1.2088e-05	1	1	0
STON2	85439	broad.mit.edu	37	14	81744032	81744032	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:81744032G>T	ENST00000555447.1	-	6	2035	c.1623C>A	c.(1621-1623)ttC>ttA	p.F541L	STON2_ENST00000267540.2_Missense_Mutation_p.F541L	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	541	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CTGCATGGATGAAACTCAGGA	0.498000													34	96					6.00712e-18	7.92633e-18	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70293649	70293649	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr13:70293649G>A	ENST00000377844.4	-	9	2626	c.1867C>T	c.(1867-1869)Cat>Tat	p.H623Y	KLHL1_ENST00000545028.1_Missense_Mutation_p.H430Y	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	623					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTATTTGTATGAGGATCATAA	0.408000													4	102					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52818371	52818371	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:52818371C>A	ENST00000273283.2	+	11	1309	c.1285C>A	c.(1285-1287)Ccg>Acg	p.P429T	ITIH1_ENST00000540715.1_Missense_Mutation_p.P287T|ITIH1_ENST00000537050.1_Missense_Mutation_p.P141T|ITIH1_ENST00000542827.1_Missense_Mutation_p.P429T	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	429	Hyaluronan-binding.|VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGGCAGGTTCCCGCTCTACAA	0.582000													23	76					5.35356e-11	6.21073e-11	1	1	0
EVPL	2125	broad.mit.edu	37	17	74005913	74005913	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:74005913G>A	ENST00000301607.3	-	22	3626	c.3373C>T	c.(3373-3375)Cgg>Tgg	p.R1125W	EVPL_ENST00000586740.1_Missense_Mutation_p.R1147W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1125	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGATAGCCCGCTCCAGGTCT	0.642000													4	144					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	77006709	77006709	+	Splice_Site	SNP	T	T	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:77006709T>A	ENST00000257626.7	-	9	655		c.e9-2			NM_017439.3	NP_059135.2			gamma-secretase activating protein																		TTTAATCACCTAAAAATGCaa	0.303000													6	138					0	0	1	0	0
EXTL2	2135	broad.mit.edu	37	1	101343225	101343225	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:101343225C>G	ENST00000370114.3	-	3	1676	c.240G>C	c.(238-240)ttG>ttC	p.L80F	EXTL2_ENST00000535414.1_Missense_Mutation_p.L67F|EXTL2_ENST00000370113.3_Missense_Mutation_p.L80F	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	80					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTAAAAGTTTCAATAAGAGAT	0.398000													11	176					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35811868	35811868	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr22:35811868C>T	ENST00000216122.4	+	10	1404	c.1250C>T	c.(1249-1251)tCg>tTg	p.S417L	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.S374L	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	417	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CTGACAGCCTCGGTGATGAGG	0.592000													127	349					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137728897	137728897	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:137728897G>A	ENST00000314358.5	+	9	2867	c.2667G>A	c.(2665-2667)aaG>aaA	p.K889K	KDM3B_ENST00000394866.1_Silent_p.K545K|KDM3B_ENST00000542866.1_5'UTR	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	889					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCAAAGTGAAGAAGCTGAAGC	0.502000													28	114					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	149983170	149983170	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:149983170T>C	ENST00000543571.1	-	8	3635	c.3088A>G	c.(3088-3090)Atc>Gtc	p.I1030V	LATS1_ENST00000253339.5_Missense_Mutation_p.I1030V	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	1030	AGC-kinase C-terminal.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGGTGTGTGATTTTAGGAATG	0.368000													13	137					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231103065	231103065	+	Silent	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:231103065T>C	ENST00000392045.3	+	3	489	c.375T>C	c.(373-375)gaT>gaC	p.D125D	SP140_ENST00000544128.1_3'UTR|SP140_ENST00000486687.2_Silent_p.D125D|SP140_ENST00000417495.3_Silent_p.D125D|SP140_ENST00000343805.6_Silent_p.D125D|SP140_ENST00000350136.5_Silent_p.D105D|SP140_ENST00000420434.3_Silent_p.D125D|SP140_ENST00000373645.3_Silent_p.D125D	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	125	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCTATCCTGATTTAAACGAGA	0.413000													21	94					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42815293	42815293	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr20:42815293C>A	ENST00000372980.3	-	1	925	c.53G>T	c.(52-54)tGg>tTg	p.W18L	JPH2_ENST00000342272.3_Missense_Mutation_p.W18L	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	18	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCCCCTCCCAGCCCCCGCA	0.632000													35	101					1.06647e-15	1.35108e-15	1	1	0
ALOX5	240	broad.mit.edu	37	10	45920487	45920487	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr10:45920487G>A	ENST00000374391.2	+	6	794	c.741G>A	c.(739-741)cgG>cgA	p.R247R	ALOX5_ENST00000542434.1_Silent_p.R247R	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	247	Lipoxygenase.				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)	TGTTGATCCGGCGCTGCACAG	0.602000													53	148					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100222622	100222622	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr9:100222622G>T	ENST00000355295.4	+	7	1313	c.1018G>T	c.(1018-1020)Gac>Tac	p.D340Y	TDRD7_ENST00000422139.2_Missense_Mutation_p.D266Y	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	340	Lotus/OST-HTH 3.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TATGGCAGGAGACTTTAAAGA	0.448000													23	56					9.95505e-16	1.26506e-15	1	1	0
ARPP21	10777	broad.mit.edu	37	3	35724361	35724361	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:35724361C>A	ENST00000187397.4	+	4	607	c.151C>A	c.(151-153)Caa>Aaa	p.Q51K	ARPP21_ENST00000412048.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000438071.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000441454.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000396482.2_Missense_Mutation_p.Q51K|ARPP21_ENST00000436702.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000444190.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000428373.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000396481.2_Missense_Mutation_p.Q51K|ARPP21_ENST00000427542.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000432682.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000417925.1_Missense_Mutation_p.Q51K|ARPP21_ENST00000337271.5_Missense_Mutation_p.Q51K|ARPP21_ENST00000474696.1_Missense_Mutation_p.Q51K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	51						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GGCTCAGAATCAAGAAAGAAG	0.343000													24	92					7.38237e-10	8.39922e-10	1	1	0
ATP10A	57194	broad.mit.edu	37	15	25953142	25953142	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr15:25953142C>A	ENST00000356865.6	-	12	2667	c.2556G>T	c.(2554-2556)gaG>gaT	p.E852D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	852					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCAGGTTGGTCTCCAGGCGAA	0.542000													14	58					4.3838e-07	4.82803e-07	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50850470	50850470	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:50850470G>T	ENST00000404971.1	-	7	2554	c.1215C>A	c.(1213-1215)gtC>gtA	p.V405V	NRXN1_ENST00000406316.2_Silent_p.V372V|NRXN1_ENST00000405472.3_Silent_p.V372V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.V372V|NRXN1_ENST00000401669.2_Silent_p.V372V|NRXN1_ENST00000406859.3_Silent_p.V372V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	372	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GATTCCTGGTGACTTTCACAT	0.443000													19	63					7.41877e-09	8.32596e-09	1	1	0
UBTF	7343	broad.mit.edu	37	17	42288499	42288499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:42288499G>A	ENST00000302904.4	-	12	1603	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*	UBTF_ENST00000533177.1_Nonsense_Mutation_p.Q334*|UBTF_ENST00000527034.1_Nonsense_Mutation_p.Q334*|UBTF_ENST00000343638.5_Nonsense_Mutation_p.Q334*|UBTF_ENST00000526094.1_Nonsense_Mutation_p.Q334*|UBTF_ENST00000436088.1_Nonsense_Mutation_p.Q371*|UBTF_ENST00000393606.3_Nonsense_Mutation_p.Q334*|UBTF_ENST00000529383.1_Nonsense_Mutation_p.Q371*|CTB-175E5.7_ENST00000586560.1_RNA			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	371					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AAGACCCGCTGCTGCTCCTCC	0.637000													14	243					0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54137805	54137805	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:54137805C>A	ENST00000376650.1	+	2	100	c.49C>A	c.(49-51)Cac>Aac	p.H17N		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	17						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GATGCATTCACACAGGAAACG	0.438000													33	148					8.69298e-16	1.11152e-15	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53610524	53610524	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chrX:53610524C>A	ENST00000342160.3	-	41	5971	c.5514G>T	c.(5512-5514)atG>atT	p.M1838I	HUWE1_ENST00000262854.6_Missense_Mutation_p.M1838I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1838					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCACCTTTTCCATGGTATGAC	0.438000													42	36					3.54909e-21	4.80582e-21	1	1	0
ZAN	7455	broad.mit.edu	37	7	100364825	100364825	+	RNA	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:100364825T>C	ENST00000542585.1	+	0	4953				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCAAAGCCGTCCACGTGACA	0.587000													21	82					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059204	248059204	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:248059204G>T	ENST00000537741.1	+	3	573	c.316G>T	c.(316-318)Ggt>Tgt	p.G106C	OR2W3_ENST00000360358.3_Missense_Mutation_p.G106C			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTGTTCCTGGGTCTGGGTGG	0.557000													71	210					8.09925e-49	1.25751e-48	1	1	0
NXF3	56000	broad.mit.edu	37	X	102333543	102333543	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chrX:102333543C>A	ENST00000395065.3	-	17	1497	c.1396G>T	c.(1396-1398)Ggt>Tgt	p.G466C	NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Missense_Mutation_p.G138C	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	466	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						AGAACAGAACCCTGAGACTGT	0.532000													189	82					1.47353e-81	2.36796e-81	1	1	0
C14orf37	145407	broad.mit.edu	37	14	58605152	58605152	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:58605152C>T	ENST00000267485.7	-	2	1119	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	309						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCACTTAAGGCAGAGGCAGCT	0.512000													18	236					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66264340	66264340	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:66264340G>T	ENST00000380828.2	+	9	1033	c.879G>T	c.(877-879)ctG>ctT	p.L293L	KCTD7_ENST00000510829.2_Silent_p.L253L|RABGEF1_ENST00000284957.5_Silent_p.L253L|KCTD7_ENST00000451741.2_Silent_p.L253L|RABGEF1_ENST00000450873.2_Silent_p.L253L|RABGEF1_ENST00000437078.2_Silent_p.L267L|RABGEF1_ENST00000439720.2_Silent_p.L266L|RABGEF1_ENST00000484547.2_3'UTR			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CTCAGATGCTGTGTGTCCCTG	0.478000													16	64					8.28177e-16	1.06223e-15	1	1	0
GBGT1	26301	broad.mit.edu	37	9	136029298	136029298	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr9:136029298T>C	ENST00000372040.3	-	7	1021	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	GBGT1_ENST00000372043.3_Missense_Mutation_p.S231G|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Missense_Mutation_p.Q220R|GBGT1_ENST00000472281.1_5'UTR					globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		GGGGAACTGCTGGCGGGGAAC	0.612000													46	140					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137988633	137988633	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:137988633T>A	ENST00000409968.1	+	8	1921	c.1743T>A	c.(1741-1743)agT>agA	p.S581R	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.S581R|THSD7B_ENST00000413152.2_Missense_Mutation_p.S550R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TATCAGGGAGTCTTTGCCCAG	0.468000													23	59					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88996618	88996618	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:88996618G>C	ENST00000237596.2	+	15	2745	c.2679G>C	c.(2677-2679)agG>agC	p.R893S	PKD2_ENST00000508588.1_Missense_Mutation_p.R311S|PKD2_ENST00000502363.1_Missense_Mutation_p.R311S|PKD2_ENST00000511337.1_3'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	893	C-terminal coiled coil domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGGATGAAAGGCTGGGTCGTG	0.478000													137	444					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704947	52704947	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:52704947A>T	ENST00000287727.3	+	4	2030	c.1858A>T	c.(1858-1860)Aaa>Taa	p.K620*	ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.K620*|ZFYVE9_ENST00000361625.1_Nonsense_Mutation_p.K620*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.K620*	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	620					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TATTCTTGGGAAAGCAAAATT	0.328000													54	130					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36018407	36018407	+	Silent	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:36018407T>C	ENST00000452271.2	-	1	805	c.777A>G	c.(775-777)agA>agG	p.R259R	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	132						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGGCCAAATCTCCCTGCCT	0.627000													3	10					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31622773	31622773	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:31622773G>A	ENST00000319386.3	+	9	1745	c.752G>A	c.(751-753)gGt>gAt	p.G251D	CCDC129_ENST00000409210.1_Missense_Mutation_p.G307D|CCDC129_ENST00000451887.2_Missense_Mutation_p.G425D|CCDC129_ENST00000407970.3_Missense_Mutation_p.G399D			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	399										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAAGAGACTGGTAATCCTCTT	0.303000													13	204					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33597741	33597741	+	Silent	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:33597741A>T	ENST00000170564.2	+	10	1535	c.1221A>T	c.(1219-1221)acA>acT	p.T407T		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	407						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					ACCCAGGGACACACAGTAAGC	0.507000													33	94					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602127	58602127	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:58602127G>T	ENST00000287275.1	-	6	1050	c.660C>A	c.(658-660)tcC>tcA	p.S220S	GLYATL2_ENST00000532258.1_Silent_p.S220S	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	220						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCAACTCACAGGACTGTTCCA	0.433000													28	95					4.59853e-10	5.26092e-10	1	1	0
ZBTB20	26137	broad.mit.edu	37	3	114070631	114070631	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:114070631G>A	ENST00000462705.1	-	11	896	c.75C>T	c.(73-75)cgC>cgT	p.R25R	ZBTB20_ENST00000393785.2_Silent_p.R25R|ZBTB20_ENST00000481632.1_Silent_p.R25R|ZBTB20_ENST00000464560.1_Silent_p.R25R|ZBTB20_ENST00000471418.1_Silent_p.R25R|ZBTB20_ENST00000474710.1_Silent_p.R98R|ZBTB20_ENST00000357258.3_Silent_p.R25R	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGCCACGGTTGCGCTGCTCGT	0.607000													26	75					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378026	19378026	+	Silent	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:19378026T>C	ENST00000550708.1	+	1	505	c.433T>C	c.(433-435)Ttg>Ctg	p.L145L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	145					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)		CTGCCGTCCCTTGCTCTATCC	0.438000													38	306					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91230436	91230436	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:91230436C>G	ENST00000509176.1	+	2	1289	c.1001C>G	c.(1000-1002)tCt>tGt	p.S334C	CCSER1_ENST00000432775.2_Missense_Mutation_p.S334C|CCSER1_ENST00000333691.8_Missense_Mutation_p.S334C	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		AGCACTGAATCTAATTCATTA	0.423000													46	91					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326823	37326823	+	Silent	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr22:37326823C>A	ENST00000262825.5	+	8	1198	c.981C>A	c.(979-981)gtC>gtA	p.V327V	CSF2RB_ENST00000406230.1_Silent_p.V327V|CSF2RB_ENST00000536485.1_Silent_p.V268V|CSF2RB_ENST00000403662.3_Silent_p.V321V	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	321					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AATACATCGTCTCTGTTCAGC	0.617000													36	129					2.19358e-23	3.04009e-23	1	1	0
SMARCD1	6602	broad.mit.edu	37	12	50483693	50483693	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr12:50483693G>T	ENST00000394963.4	+	7	1196	c.798G>T	c.(796-798)gaG>gaT	p.E266D	SMARCD1_ENST00000548573.1_Missense_Mutation_p.E64D|SMARCD1_ENST00000381513.4_Missense_Mutation_p.E266D	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	266	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CTACCCAGGAGACCGATGGCT	0.572000													26	84					5.45727e-16	7.04329e-16	1	1	0
SEMA6D	80031	broad.mit.edu	37	15	48060806	48060806	+	Silent	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr15:48060806C>A	ENST00000316364.5	+	18	2233	c.1794C>A	c.(1792-1794)acC>acA	p.T598T	SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000355997.3_Silent_p.T579T|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000558816.1_Silent_p.T579T|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000536845.2_Silent_p.T598T|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000389433.2_Silent_p.T579T	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	598					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTTCTGTTACCACAATGGCAA	0.368000													19	57					8.34094e-07	9.13742e-07	1	1	0
NSMAF	8439	broad.mit.edu	37	8	59512551	59512551	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr8:59512551T>A	ENST00000038176.3	-	17	1522	c.1310A>T	c.(1309-1311)gAt>gTt	p.D437V	NSMAF_ENST00000427130.2_Missense_Mutation_p.D468V	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	437	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)				CGTTGCACCATCCAGACAGTT	0.343000													30	109					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225037	206225037	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:206225037C>T	ENST00000367126.4	+	1	1062	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	199					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CACGGGCCTACCTCACCTGGA	0.577000													53	306					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15761681	15761681	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr10:15761681C>G	ENST00000378076.3	-	1	443	c.90G>C	c.(88-90)ttG>ttC	p.L30F		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	30					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGGACCACAGCAACATCCCCA	0.711000													8	19					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118485175	118485175	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:118485175C>G	ENST00000311085.8	+	18	3733	c.3653C>G	c.(3652-3654)tCt>tGt	p.S1218C	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1218C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1218								p.S1218Y(1)|p.S1218C(1)		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)		TTTCCTGTTTCTTTATCGTGG	0.443000													4	250					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651319	121651319	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:121651319C>A	ENST00000393386.2	+	12	2630	c.2219C>A	c.(2218-2220)aCg>aAg	p.T740K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.T740K|PTPRZ1_ENST00000483028.1_3'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	740					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGGTCTCCACGGTCAACGTG	0.478000													39	112					2.59497e-14	3.20875e-14	1	1	0
TMCO4	255104	broad.mit.edu	37	1	20107215	20107215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:20107215G>A	ENST00000294543.6	-	4	278	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	TMCO4_ENST00000375127.1_Nonsense_Mutation_p.Q13*|TMCO4_ENST00000375122.2_Nonsense_Mutation_p.Q13*	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	13						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGAGGCTGCTGAGGCAGCCTC	0.607000													8	65					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15937257	15937257	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:15937257C>T	ENST00000504595.1	+	4	1919	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	FBXL7_ENST00000329673.7_Missense_Mutation_p.R468C|FBXL7_ENST00000510662.1_Missense_Mutation_p.R433C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	480					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R480C(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCACTGCAAGCGCTGCGTCAT	0.532000													13	26					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106785	168106785	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:168106785G>T	ENST00000409195.1	+	9	8972	c.8883G>T	c.(8881-8883)gtG>gtT	p.V2961V	XIRP2_ENST00000409273.1_Silent_p.V2739V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V2961V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2786					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						TGTCGAGAGTGAAACAGTTTG	0.388000													6	199					2.0095e-06	2.18977e-06	1	1	0
FLNB	2317	broad.mit.edu	37	3	58139114	58139114	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:58139114G>T	ENST00000357272.4	+	40	6615	c.6450G>T	c.(6448-6450)caG>caT	p.Q2150H	FLNB_ENST00000295956.4_Missense_Mutation_p.S2127I|FLNB_ENST00000419752.2_Missense_Mutation_p.S1947I|FLNB_ENST00000429972.2_Missense_Mutation_p.S2116I|FLNB_ENST00000348383.5_Missense_Mutation_p.S2086I|FLNB_ENST00000358537.3_Missense_Mutation_p.S2103I|FLNB_ENST00000490882.1_Missense_Mutation_p.S2158I|FLNB_ENST00000493452.1_Missense_Mutation_p.S1934I			O75369	FLNB_HUMAN	filamin B, beta	0	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATCAACAGCAGTGATATGTCG	0.602000													63	155					3.94896e-32	5.86663e-32	1	1	0
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020692	33020692	+	RNA	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:33020692G>T	ENST00000565407.2	+	0	100				RP11-19N8.2_ENST00000567619.1_RNA																							GGTACAGCCTGGGGGGTCCCT	0.582000													83	276					1.52671e-32	2.28454e-32	1	1	0
AACS	65985	broad.mit.edu	37	12	125613930	125613930	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr12:125613930C>T	ENST00000545511.1	+	4	5199	c.212C>T	c.(211-213)tCc>tTc	p.S71F	AACS_ENST00000316519.6_Silent_p.I491I|AACS_ENST00000543665.1_5'UTR|AACS_ENST00000316543.10_Silent_p.I89I|AACS_ENST00000261686.6_Silent_p.I491I			Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	0					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CTAAGCCGATCCCTTGCCAGC	0.532000													114	456					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85970907	85970907	+	Missense_Mutation	SNP	G	G	A	rs138638103		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr10:85970907G>A	ENST00000372117.3	+	13	1574	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	CDHR1_ENST00000440770.2_Intron|CDHR1_ENST00000332904.3_Missense_Mutation_p.V491M	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	491	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGGCTCCAGCGTGGTGGCTGT	0.572000													6	134					0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90049089	90049089	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:90049089C>T	ENST00000330947.2	+	5	1240	c.880C>T	c.(880-882)Cag>Tag	p.Q294*	LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.Q294*|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.Q294*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	294						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGTTGATGTGCAGGCTTTTAC	0.358000													65	189					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152529152	152529152	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:152529152C>G	ENST00000427231.2	-	37	4232	c.4030G>C	c.(4030-4032)Gtg>Ctg	p.V1344L	NEB_ENST00000409198.1_Missense_Mutation_p.V1344L|NEB_ENST00000603639.1_Missense_Mutation_p.V1344L|NEB_ENST00000172853.10_Missense_Mutation_p.V1344L|NEB_ENST00000397345.3_Missense_Mutation_p.V1344L|NEB_ENST00000604864.1_Missense_Mutation_p.V1344L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1344					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGAAACCCACATGCTTTCCC	0.443000													7	193					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155577906	155577906	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:155577906A>G	ENST00000461783.3	+	29	6030	c.4757A>G	c.(4756-4758)aAa>aGa	p.K1586R	TIAM2_ENST00000360366.4_Missense_Mutation_p.K1610R|TIAM2_ENST00000528391.2_Missense_Mutation_p.K930R|TIAM2_ENST00000456144.1_Missense_Mutation_p.K1615R|TIAM2_ENST00000456877.2_Missense_Mutation_p.K898R|TIAM2_ENST00000367174.2_Missense_Mutation_p.K962R|TIAM2_ENST00000275246.7_Missense_Mutation_p.K511R|TIAM2_ENST00000529824.2_Missense_Mutation_p.K1615R|TIAM2_ENST00000318981.5_Missense_Mutation_p.K1586R			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1586					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCCTACTAAAGACATCGAA	0.552000													28	88					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542723	182542723	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:182542723G>T	ENST00000295108.3	-	2	1322	c.865C>A	c.(865-867)Ccg>Acg	p.P289T	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	289					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCGGCGGACGGTTCGTGTTTG	0.537000													32	112					1.45844e-13	1.77157e-13	1	1	0
ORC1	4998	broad.mit.edu	37	1	52861860	52861860	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:52861860C>A	ENST00000371568.3	-	5	797	c.579G>T	c.(577-579)aaG>aaT	p.K193N	ORC1_ENST00000371566.1_Missense_Mutation_p.K193N	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	193					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CACTCTTACTCTTGGCTCTCA	0.502000													48	111					9.45407e-15	1.18319e-14	1	1	0
SLC7A13	157724	broad.mit.edu	37	8	87235286	87235286	+	Silent	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr8:87235286A>T	ENST00000297524.3	-	2	835	c.732T>A	c.(730-732)acT>acA	p.T244T	SLC7A13_ENST00000419776.2_Silent_p.T235T|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	244						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GAGGTAACGCAGTAAATATGC	0.378000													85	170					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125726	58125726	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:58125726A>G	ENST00000357377.3	-	1	816	c.817T>C	c.(817-819)Tct>Cct	p.S273P		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAGAACACAGATGCAATTTTG	0.403000													46	159					0	0	1	0	0
RFNG	5986	broad.mit.edu	37	17	80007615	80007615	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:80007615G>A	ENST00000310496.4	-	6	773	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Missense_Mutation_p.P130S	NM_002917.1	NP_002908.1	Q9Y644	RFNG_HUMAN	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	256					cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGGAAGAGGGGGCTGTGCAGC	0.672000													8	21					0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68619559	68619559	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:68619559G>T	ENST00000226413.4	-	1	519	c.495C>A	c.(493-495)atC>atA	p.I165I	RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Silent_p.I165I|RP11-453E17.1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	165					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	CACTACTGAGGATCCAGGCCA	0.468000													12	36					0.0202918	0.0205909	1	1	0
ZNF606	80095	broad.mit.edu	37	19	58499672	58499672	+	Splice_Site	SNP	T	T	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:58499672T>G	ENST00000341164.4	-	6	925		c.e6-2		ZNF606_ENST00000536132.1_Splice_Site	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TCTGATTTCCTATGCATGGAG	0.517000													22	41					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34030155	34030155	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr21:34030155C>A	ENST00000382499.2	-	19	2448	c.2449G>T	c.(2449-2451)Gta>Tta	p.V817L	SYNJ1_ENST00000382491.3_Missense_Mutation_p.V773L|SYNJ1_ENST00000357345.3_Missense_Mutation_p.V778L|SYNJ1_ENST00000322229.7_Missense_Mutation_p.V778L|SYNJ1_ENST00000433931.2_Missense_Mutation_p.V817L|SYNJ1_ENST00000464778.1_5'UTR	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	778	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCAAAGGTTACCTTTCCTTCT	0.403000													10	78					0.0135373	0.0137707	1	1	0
GPA33	10223	broad.mit.edu	37	1	167038193	167038193	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:167038193G>T	ENST00000367868.3	-	3	724	c.381C>A	c.(379-381)ggC>ggA	p.G127G	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	127	Ig-like V-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACTTGGTGTTGCCCTCCAGGT	0.562000													28	149					1.5548e-18	2.06473e-18	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22952013	22952013	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:22952013G>T	ENST00000397104.3	-	2	179	c.180C>A	c.(178-180)aaC>aaA	p.N60K	ZNF99_ENST00000596209.1_Missense_Mutation_p.N39K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGAAGACCAGGTTTCTGTAGT	0.383000													25	170					4.43304e-23	6.12322e-23	1	1	0
GLIS1	148979	broad.mit.edu	37	1	54060494	54060494	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:54060494C>A	ENST00000312233.2	-	3	648	c.82G>T	c.(82-84)Ggc>Tgc	p.G28C		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	28					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGGCTTCGGCCCGGGAGGTCC	0.711000													13	29					6.31663e-08	7.01281e-08	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55955618	55955618	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr10:55955618G>C	ENST00000373965.2	-	11	1524	c.1130C>G	c.(1129-1131)gCc>gGc	p.A377G	PCDH15_ENST00000395446.1_Missense_Mutation_p.A377G|PCDH15_ENST00000395432.2_Missense_Mutation_p.A340G|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A377G|PCDH15_ENST00000437009.1_Missense_Mutation_p.A377G|PCDH15_ENST00000373955.1_Missense_Mutation_p.A377G|PCDH15_ENST00000395433.1_Missense_Mutation_p.A355G|PCDH15_ENST00000414778.1_Missense_Mutation_p.A382G|PCDH15_ENST00000395430.1_Missense_Mutation_p.A377G|PCDH15_ENST00000361849.3_Missense_Mutation_p.A377G|PCDH15_ENST00000395438.1_Missense_Mutation_p.A377G|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.A377G|PCDH15_ENST00000320301.6_Missense_Mutation_p.A377G|PCDH15_ENST00000373957.3_Missense_Mutation_p.A355G	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	377	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCGGCAAAGGCAGGAAGAGG	0.368000										HNSCC(58;0.16)			27	86					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48925068	48925068	+	Silent	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:48925068G>A	ENST00000263269.3	+	10	2206	c.2118G>A	c.(2116-2118)ccG>ccA	p.P706P		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	706						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AGCAGTACCCGCCCCTGAAGT	0.587000													52	162					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084474	248084474	+	Missense_Mutation	SNP	G	G	T	rs151076604		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:248084474G>T	ENST00000319968.4	+	1	155	c.155G>T	c.(154-156)cGg>cTg	p.R52L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R52Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGACCACCGGCTCCACACG	0.532000													48	214					2.22609e-26	3.15936e-26	1	1	0
RACGAP1	29127	broad.mit.edu	37	12	50394955	50394955	+	Splice_Site	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr12:50394955C>A	ENST00000434422.1	-	8	931	c.630_splice	c.e8+1	p.Q210_splice	RACGAP1_ENST00000551016.1_Splice_Site_p.Q210_splice|RACGAP1_ENST00000547905.1_Splice_Site_p.Q210_splice|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000454520.2_Splice_Site_p.Q210_splice|RACGAP1_ENST00000427314.2_Splice_Site_p.Q210_splice|RACGAP1_ENST00000312377.5_Splice_Site_p.Q210_splice			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	210	Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CTATTCTTACCTGGTCTACTG	0.458000													11	58					0.000978159	0.00102273	1	1	0
SERPINA11	256394	broad.mit.edu	37	14	94909507	94909507	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:94909507C>A	ENST00000334708.3	-	4	1037	c.973G>T	c.(973-975)Gac>Tac	p.D325Y	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	325					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.D507Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGAAGTATGTCTTCCAGGTTA	0.423000													27	116					1.04121e-07	1.15287e-07	1	1	0
ZNF431	170959	broad.mit.edu	37	19	21366322	21366322	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:21366322G>T	ENST00000311048.7	+	5	1360	c.1216G>T	c.(1216-1218)Ggc>Tgc	p.G406C	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TGAAGTGTGTGGCAAAGCCTT	0.383000													24	83					3.28513e-13	3.96713e-13	1	1	0
SALL3	27164	broad.mit.edu	37	18	76754904	76754904	+	Splice_Site	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr18:76754904G>T	ENST00000536229.3	+	1	3223	c.2515_splice	c.e1+1	p.R838_splice	SALL3_ENST00000537592.2_Silent_p.R971R|SALL3_ENST00000575389.2_Splice_Site_p.R971_splice			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1043					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCAGGGAGCGGGGTAAGTGTC	0.662000													16	36					1.02788e-11	1.20945e-11	1	1	0
PHKB	5257	broad.mit.edu	37	16	47622972	47622972	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:47622972G>C	ENST00000455779.1	+	11	1191	c.1006G>C	c.(1006-1008)Gaa>Caa	p.E336Q	PHKB_ENST00000323584.5_Missense_Mutation_p.E343Q|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Missense_Mutation_p.E336Q|PHKB_ENST00000299167.8_Missense_Mutation_p.E343Q			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	343					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AACATCATTGGAAGATCCCAA	0.343000													6	117					0	0	1	0	0
TOB1	10140	broad.mit.edu	37	17	48940480	48940480	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:48940480G>A	ENST00000499247.2	-	2	1332	c.899C>T	c.(898-900)cCt>cTt	p.P300L	TOB1_ENST00000268957.3_Missense_Mutation_p.P300L	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	300					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GTACTGGAGAGGACTGAGGTT	0.418000													36	84					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47333995	47333995	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr21:47333995A>C	ENST00000400304.1	+	7	635	c.635A>C	c.(634-636)cAc>cCc	p.H212P	PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000468429.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000400308.1_Intron			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	225					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTACTGCAGCACCCGCCGCTG	0.627000													14	32					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76255796	76255796	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:76255796A>G	ENST00000529032.1	+	18	3203	c.3203A>G	c.(3202-3204)tAc>tGc	p.Y1068C	C11orf30_ENST00000525038.1_Missense_Mutation_p.Y1069C|C11orf30_ENST00000524767.1_Missense_Mutation_p.Y1083C|C11orf30_ENST00000525919.1_Missense_Mutation_p.Y1069C|C11orf30_ENST00000334736.3_Missense_Mutation_p.Y1068C|C11orf30_ENST00000343878.3_Missense_Mutation_p.Y1068C|C11orf30_ENST00000524490.1_Missense_Mutation_p.Y970C|C11orf30_ENST00000533248.1_Missense_Mutation_p.Y977C			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1068	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CCAAAAATCTACGTGCAACCC	0.512000													51	201					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559464	228559464	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:228559464C>T	ENST00000570156.2	+	105	23930	c.23856C>T	c.(23854-23856)atC>atT	p.I7952I	OBSCN_ENST00000422127.1_Silent_p.I6995I|OBSCN_ENST00000366707.4_Silent_p.I4629I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6995					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	p.I7707M(1)|p.I7577M(1)		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)				GGGCCCCTATCAGGGACATGG	0.692000													5	186					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15486865	15486865	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr9:15486865G>C	ENST00000380733.4	-	5	696	c.353C>G	c.(352-354)tCa>tGa	p.S118*	PSIP1_ENST00000397519.2_Nonsense_Mutation_p.S118*|PSIP1_ENST00000380715.1_Nonsense_Mutation_p.S118*|PSIP1_ENST00000380738.4_Nonsense_Mutation_p.S118*|PSIP1_ENST00000380716.4_Nonsense_Mutation_p.S118*			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	118					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		ATCTTCCTTTGAAACACTAGT	0.323000													13	182					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186106048	186106048	+	Silent	SNP	A	A	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:186106048A>C	ENST00000271588.4	+	87	13790	c.13561A>C	c.(13561-13563)Aga>Cga	p.R4521R	HMCN1_ENST00000367492.2_Silent_p.R4521R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4521	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCCTTGTCAGAGTGCCAGT	0.398000													249	177					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070064	141070064	+	RNA	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr9:141070064G>A	ENST00000503395.1	+	0	1144																											TGGCAGGTACGTGCCCCGCGC	0.716000													4	118					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168479586	168479586	+	Silent	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:168479586C>A	ENST00000283309.6	-	1	253	c.189G>T	c.(187-189)cgG>cgT	p.R63R		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	63	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCAGTTGCTCCCGGCTGGGCA	0.697000													62	115					9.13743e-30	1.34777e-29	1	1	0
TRPV5	56302	broad.mit.edu	37	7	142622610	142622610	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:142622610C>T	ENST00000442623.1	-	8	1399	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	TRPV5_ENST00000265310.1_Intron			Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	0					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCATCCCCTTCTGAGGAGAAT	0.542000													5	88					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104901	183104901	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:183104901G>T	ENST00000435564.1	-	3	534	c.334C>A	c.(334-336)Cct>Act	p.P112T	PDE1A_ENST00000410103.1_Missense_Mutation_p.P112T|PDE1A_ENST00000409365.1_Missense_Mutation_p.P96T|PDE1A_ENST00000351439.5_Missense_Mutation_p.P96T|PDE1A_ENST00000346717.4_Missense_Mutation_p.P78T|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000536095.1_Missense_Mutation_p.P8T|PDE1A_ENST00000358139.2_Missense_Mutation_p.P112T|PDE1A_ENST00000456212.1_Missense_Mutation_p.P112T|PDE1A_ENST00000331935.6_Missense_Mutation_p.P112T	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	112					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTTTCCTCAGGTTTCTTTTTT	0.423000													4	206					2.56e-06	2.78232e-06	1	1	0
USP15	9958	broad.mit.edu	37	12	62749183	62749183	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr12:62749183G>C	ENST00000280377.5	+	8	900	c.842G>C	c.(841-843)aGa>aCa	p.R281T	USP15_ENST00000393654.3_Missense_Mutation_p.R256T|USP15_ENST00000353364.3_Missense_Mutation_p.R252T	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	281					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAACCTGGAAGAAACAATGAA	0.363000													21	65					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32639984	32639984	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:32639984C>T	ENST00000421745.2	+	10	1759	c.1625C>T	c.(1624-1626)cCt>cTt	p.P542L		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	542					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGGGCAAATCCTTGTTTAACA	0.388000													18	49					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767340	105767340	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr9:105767340A>G	ENST00000374798.3	+	5	497	c.427A>G	c.(427-429)Aaa>Gaa	p.K143E	CYLC2_ENST00000487798.1_Missense_Mutation_p.K143E	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	143	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)				agattcaaagaaaggcaagga	0.363000													21	51					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774500	100774500	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr12:100774500G>C	ENST00000323346.5	+	2	436	c.123G>C	c.(121-123)gaG>gaC	p.E41D	SLC17A8_ENST00000392989.3_Missense_Mutation_p.E41D	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	41					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGACAACTGAGGAAGAAGATA	0.463000													77	265					0	0	1	0	0
CYGB	114757	broad.mit.edu	37	17	74533526	74533526	+	Silent	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:74533526C>A	ENST00000293230.5	-	1	461	c.99G>T	c.(97-99)cgG>cgT	p.R33R	CYGB_ENST00000589342.1_Silent_p.R33R|CYGB_ENST00000589145.1_Intron|PRCD_ENST00000592432.1_Intron	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	33	Globin.				response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						TGGCATAGAGCCGGGCCCACA	0.706000													20	60					8.34094e-07	9.13742e-07	1	1	0
POM121L12	285877	broad.mit.edu	37	7	53103862	53103862	+	Silent	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:53103862C>A	ENST00000408890.4	+	1	514	c.498C>A	c.(496-498)gcC>gcA	p.A166A		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	166										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						gccccgccgcccAGGAGCTCC	0.726000													20	58					1.33834e-09	1.5185e-09	1	1	0
NFASC	23114	broad.mit.edu	37	1	204937426	204937426	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:204937426C>T	ENST00000367172.4	+	9	1084	c.756C>T	c.(754-756)acC>acT	p.T252T	NFASC_ENST00000367170.4_Silent_p.T252T|NFASC_ENST00000367171.4_Silent_p.T252T|NFASC_ENST00000401399.1_Silent_p.T252T|NFASC_ENST00000360049.4_Silent_p.T263T|NFASC_ENST00000367169.4_Silent_p.T252T|NFASC_ENST00000403080.1_Silent_p.T252T|NFASC_ENST00000339876.6_Silent_p.T252T|NFASC_ENST00000338515.6_Silent_p.T252T|NFASC_ENST00000539706.1_Silent_p.T263T|NFASC_ENST00000338586.6_Silent_p.T252T|NFASC_ENST00000513543.1_Silent_p.T263T|NFASC_ENST00000404076.1_Silent_p.T246T|NFASC_ENST00000404907.1_Silent_p.T263T			O94856	NFASC_HUMAN	neurofascin	252	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCAGGGCACCGCGAGCAGCC	0.587000													33	321					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153586812	153586812	+	Splice_Site	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chrX:153586812C>A	ENST00000422373.1	-	27	4847		c.e27+1		FLNA_ENST00000344736.4_Splice_Site|FLNA_ENST00000369850.3_Splice_Site|FLNA_ENST00000360319.4_Splice_Site	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha						actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCCTCTTACCTCCGGGGTA	0.577000													52	91					2.74695e-27	3.91204e-27	1	1	0
SLC2A10	81031	broad.mit.edu	37	20	45354608	45354608	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr20:45354608C>T	ENST00000359271.2	+	2	1183	c.933C>T	c.(931-933)gtC>gtT	p.V311V		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	311						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCCTGTCCGTCAGTGGCATAG	0.657000													43	137					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768363	31768363	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:31768363C>T	ENST00000240587.4	-	2	2663	c.2336G>A	c.(2335-2337)cGc>cAc	p.R779H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	779					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTAGAAATAGCGGTCGAGGTG	0.572000													6	116					0	0	1	0	0
PAG1	55824	broad.mit.edu	37	8	81897324	81897324	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr8:81897324T>C	ENST00000220597.4	-	7	1273	c.563A>G	c.(562-564)aAg>aGg	p.K188R		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	188					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			AGCCACCTCCTTGATCTCTTT	0.547000													36	100					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29670389	29670389	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr12:29670389G>T	ENST00000256062.5	-	14	2289	c.1816C>A	c.(1816-1818)Cct>Act	p.P606T	TMTC1_ENST00000551659.1_Missense_Mutation_p.P776T|TMTC1_ENST00000552618.1_Missense_Mutation_p.P738T|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Missense_Mutation_p.P714T	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	714						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CTCTGAGAAGGCTGAAGTGCT	0.498000													53	156					3.48956e-15	4.38051e-15	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													4	194					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27719805	27719805	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:27719805G>C	ENST00000264717.2	+	1	97	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	12					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ACATGTCATTGAGACCCCGGA	0.527000													3	112					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38956784	38956784	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:38956784G>T	ENST00000355481.4	+	24	3055	c.2924G>T	c.(2923-2925)cGg>cTg	p.R975L	RYR1_ENST00000360985.3_Missense_Mutation_p.R975L|RYR1_ENST00000359596.3_Missense_Mutation_p.R975L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	975	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCCACGTGCGGCTGACGCCG	0.647000													9	44					2.17888e-05	2.32526e-05	1	1	0
HOXA4	3201	broad.mit.edu	37	7	27169186	27169186	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:27169186G>C	ENST00000360046.5	-	2	686	c.621C>G	c.(619-621)aaC>aaG	p.N207K	HOXA3_ENST00000467897.2_Intron|HOXA4_ENST00000428284.2_Missense_Mutation_p.N207K|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	207						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TATAACTGGGGTTAACTGAAA	0.557000													32	78					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098792	11098792	+	RNA	SNP	T	T	A	rs80334250		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr21:11098792T>A	ENST00000470054.1	-	0	133									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		acactccagctgcgctgccat	0.632000													15	287					0	0	1	0	0
CRIP2	1397	broad.mit.edu	37	14	105945514	105945514	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:105945514C>T	ENST00000329146.4	+	6	1172	c.459C>T	c.(457-459)tgC>tgT	p.C153C	CRIP2_ENST00000483017.3_Silent_p.C227C|CRIP2_ENST00000548989.1_3'UTR	NM_001312.2	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	153	LIM zinc-binding 2.						zinc ion binding			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCCTGCGCTGCGAGCGCTGCG	0.751000													27	47					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523153	23523153	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr22:23523153G>T	ENST00000305877.8	+	1	757	c.6G>T	c.(4-6)gtG>gtT	p.V2V	BCR_ENST00000359540.3_Silent_p.V2V|BCR_ENST00000398512.5_Silent_p.V2V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	2	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GCGCCATGGTGGACCCGGTGG	0.791000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								5	8					0.0215528	0.0218169	1	1	0
AMELY	266	broad.mit.edu	37	Y	6736413	6736413	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chrY:6736413G>T	ENST00000215479.5	-	5	305	c.238C>A	c.(238-240)Ctg>Atg	p.L80M	AMELY_ENST00000383037.4_Missense_Mutation_p.L94M|AMELY_ENST00000383036.1_Missense_Mutation_p.L94M	NM_001143.1	NP_001134.1	Q99218	AMELY_HUMAN	amelogenin, Y-linked	94					biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel			NS(1)|lung(5)	6						TGAGACTGCAGGGTGTGAGTC	0.587000													72	64					1.64915e-30	2.44122e-30	1	1	0
DMXL2	23312	broad.mit.edu	37	15	51860697	51860697	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr15:51860697T>A	ENST00000251076.5	-	3	559	c.272A>T	c.(271-273)cAt>cTt	p.H91L	DMXL2_ENST00000449909.3_Missense_Mutation_p.H91L|DMXL2_ENST00000543779.2_Missense_Mutation_p.H91L|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	91						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTTCTTTTATGAGAATTTAT	0.284000													9	29					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180046339	180046339	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:180046339G>T	ENST00000261937.6	-	19	2753	c.2675C>A	c.(2674-2676)gCg>gAg	p.A892E	FLT4_ENST00000393347.3_Missense_Mutation_p.A892E|FLT4_ENST00000502649.1_Missense_Mutation_p.A892E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	892	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.A892V(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGACATCAGCGCGCGGTGCTC	0.701000													22	78					7.76418e-22	1.05829e-21	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922555	24922555	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr15:24922555A>T	ENST00000329468.2	+	1	2015	c.1541A>T	c.(1540-1542)gAg>gTg	p.E514V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GTCACAAGGGAGTCCCCAATA	0.552000													149	437					0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73767293	73767293	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr10:73767293C>T	ENST00000373115.4	+	3	941	c.504C>T	c.(502-504)atC>atT	p.I168I		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	168					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						TGTGGCACATCGAGCGCACAG	0.657000													16	37					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2																						CTCTTGTACTAGAAACAGACC	0.552000													5	65					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76809405	76809405	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:76809405C>A	ENST00000286719.7	-	6	850	c.494G>T	c.(493-495)cGg>cTg	p.R165L		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	165	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGTTGAGACCCGGTTGATGTT	0.493000													13	164					1.48646e-12	1.7743e-12	1	1	0
FAM105A	54491	broad.mit.edu	37	5	14608879	14608879	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:14608879G>C	ENST00000274217.3	+	7	770	c.650G>C	c.(649-651)aGa>aCa	p.R217T		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	217										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					AATGGCATTAGAGATTATCAC	0.313000													19	56					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389064	48389064	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr10:48389064G>T	ENST00000224600.4	-	1	1927	c.1814C>A	c.(1813-1815)gCc>gAc	p.A605D		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	605	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)	ACCCAGCCAGGCCTCGCCGTG	0.672000													21	139					1.64293e-13	1.98983e-13	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720584	140720584	+	Silent	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:140720584C>A	ENST00000394576.2	+	1	2046	c.2046C>A	c.(2044-2046)gcC>gcA	p.A682A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCCTCCGCCATACCCAACG	0.682000													163	346					1.02705e-64	1.63772e-64	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35659120	35659120	+	Splice_Site	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:35659120G>A	ENST00000440995.2	+	8	978		c.e8-1		SPEF2_ENST00000509059.1_Splice_Site|SPEF2_ENST00000282469.6_Splice_Site|SPEF2_ENST00000356031.3_Splice_Site			Q9C093	SPEF2_HUMAN	sperm flagellar 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGTGTTTTCAGGAGGCTTATC	0.483000													15	56					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56586643	56586643	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr18:56586643G>T	ENST00000336078.4	+	4	1900	c.1124G>T	c.(1123-1125)aGa>aTa	p.R375I	ZNF532_ENST00000591808.1_Missense_Mutation_p.R375I|ZNF532_ENST00000591083.1_Missense_Mutation_p.R375I|ZNF532_ENST00000589288.1_Missense_Mutation_p.R375I|ZNF532_ENST00000591230.1_Missense_Mutation_p.R375I	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GAAATCAAGAGAACAGTGACC	0.522000													36	112					2.1956e-27	3.14855e-27	1	1	0
VWA3A	146177	broad.mit.edu	37	16	22143018	22143018	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:22143018C>A	ENST00000389398.5	+	19	1936	c.1840C>A	c.(1840-1842)Ctc>Atc	p.L614I	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	614	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGGAATCTACCTCTTCACTGG	0.587000													12	48					3.07112e-06	3.32906e-06	1	1	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													5	257					0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172822364	172822364	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:172822364G>C	ENST00000264108.4	+	6	582	c.546G>C	c.(544-546)ttG>ttC	p.L182F	HAT1_ENST00000392584.1_Missense_Mutation_p.L97F|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	182					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AGACCTTTTTGATGTGGTTTA	0.393000													63	219					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124763783	124763783	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:124763783G>A	ENST00000306534.3	-	9	1962	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	ROBO4_ENST00000533054.1_Missense_Mutation_p.R348C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	493					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTAGCTCGGCGCCGGCGGTGG	0.642000													4	32					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207748949	207748949	+	Silent	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:207748949C>G	ENST00000367049.4	+	28	4461	c.4461C>G	c.(4459-4461)ctC>ctG	p.L1487L	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Silent_p.L1037L|CR1_ENST00000367053.1_Silent_p.L1037L|CR1_ENST00000367051.1_Silent_p.L1037L|CR1_ENST00000400960.2_Silent_p.L1037L|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1037	Sushi 23.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGCACCGACTCATTGGTCACT	0.443000													24	785					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110048374	110048374	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:110048374G>T	ENST00000230124.3	+	4	476	c.352G>T	c.(352-354)Gat>Tat	p.D118Y	FIG4_ENST00000368941.1_Missense_Mutation_p.D41Y|FIG4_ENST00000441478.2_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	118					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GAAGATGGCGGATATTGGAGG	0.338000													17	171					2.94398e-08	3.27726e-08	1	1	0
MUC13	56667	broad.mit.edu	37	3	124632460	124632460	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:124632460C>A	ENST00000311075.3	-	7	1068	c.1030G>T	c.(1030-1032)Gat>Tat	p.D344Y		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	344	EGF-like 2.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GATTTGCAATCGCATGCTAAA	0.423000													44	114					1.15505e-17	1.5144e-17	1	1	0
NUDT19	390916	broad.mit.edu	37	19	33202801	33202801	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:33202801G>T	ENST00000397061.3	+	3	1066	c.1066G>T	c.(1066-1068)Gtt>Ttt	p.V356F		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	356						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CCACGTGACTGTTCAGCCAAA	0.393000													74	184					2.35699e-46	3.61872e-46	1	1	0
PLEKHH1	57475	broad.mit.edu	37	14	68029323	68029323	+	Silent	SNP	C	C	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:68029323C>T	ENST00000329153.5	+	7	1107	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	325						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GGGACAGCATCCAGTTGGCCA	0.637000													7	48					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99470069	99470069	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:99470069G>T	ENST00000370188.3	-	1	519	c.159C>A	c.(157-159)ccC>ccA	p.P53P	LPPR5_ENST00000263177.4_Silent_p.P53P|RP5-896L10.1_ENST00000425113.1_RNA	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		53						integral to membrane	hydrolase activity										GGCCCGGGTAGGGTTTGCGGT	0.687000													9	142					0.000442599	0.000465124	1	1	0
WDR72	256764	broad.mit.edu	37	15	53992106	53992106	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr15:53992106C>A	ENST00000396328.1	-	13	1845	c.1606G>T	c.(1606-1608)Gac>Tac	p.D536Y	WDR72_ENST00000557913.1_Missense_Mutation_p.D533Y|WDR72_ENST00000559418.1_Missense_Mutation_p.D546Y|WDR72_ENST00000360509.5_Missense_Mutation_p.D536Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	536										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACGGAATGGTCACCGCACACA	0.453000													71	167					1.52808e-22	2.10366e-22	1	1	0
SH2D5	400745	broad.mit.edu	37	1	21050138	21050138	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:21050138C>A	ENST00000375031.1	-	7	1261	c.637G>T	c.(637-639)Gcc>Tcc	p.A213S	SH2D5_ENST00000444387.2_Missense_Mutation_p.A297S|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	213	SH2.									lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAGCGAAGGCCCAGATGTTC	0.672000													12	41					9.31168e-06	1.00149e-05	1	1	0
MACF1	23499	broad.mit.edu	37	1	39750872	39750872	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:39750872G>T	ENST00000564288.1	+	12	2026	c.1249G>T	c.(1249-1251)Gct>Tct	p.A417S	MACF1_ENST00000317713.7_Missense_Mutation_p.A422S|MACF1_ENST00000545844.1_Missense_Mutation_p.A422S|MACF1_ENST00000567887.1_Missense_Mutation_p.A454S|MACF1_ENST00000539005.1_Missense_Mutation_p.A422S|MACF1_ENST00000361689.2_Missense_Mutation_p.A422S|MACF1_ENST00000372915.3_Missense_Mutation_p.A422S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	422					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTTCGGCCGGCTGTGGAGAG	0.463000													33	90					6.53348e-20	8.7608e-20	1	1	0
KCNN3	3782	broad.mit.edu	37	1	154744782	154744782	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:154744782A>T	ENST00000271915.3	-	3	1432	c.1117T>A	c.(1117-1119)Tgc>Agc	p.C373S	KCNN3_ENST00000358505.2_Missense_Mutation_p.C60S|KCNN3_ENST00000361147.4_Missense_Mutation_p.C68S	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	378						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TGGATGGCGCACACCAGCATC	0.607000													56	61					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33733757	33733757	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr22:33733757G>T	ENST00000354992.2	-	11	1733	c.1162C>A	c.(1162-1164)Cgg>Agg	p.R388R	LARGE_ENST00000337431.2_Intron|LARGE_ENST00000397394.2_Silent_p.R388R|LARGE_ENST00000402320.1_Intron|LARGE_ENST00000452586.2_Silent_p.R187R|LARGE_ENST00000437602.2_Silent_p.R388R	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	388					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TTCTTCACCCGGAGCTTCTTG	0.557000													14	64					8.60227e-14	1.05423e-13	1	1	0
LLGL2	3993	broad.mit.edu	37	17	73569700	73569700	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:73569700C>G	ENST00000392550.3	+	21	2981	c.2864C>G	c.(2863-2865)cCg>cGg	p.P955R	LLGL2_ENST00000577200.1_Missense_Mutation_p.P955R|LLGL2_ENST00000167462.5_Missense_Mutation_p.P955R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	955					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCC	0.667000													7	54					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240570	126240570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:126240570G>T	ENST00000394329.3	+	1	3017	c.3004G>T	c.(3004-3006)Gaa>Taa	p.E1002*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1002	Cadherin 10.				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						ACTCTCTTATGAAGTCACCCT	0.403000													72	163					3.54697e-40	5.42555e-40	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52320747	52320747	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr8:52320747C>A	ENST00000356297.4	-	17	3537	c.3437G>T	c.(3436-3438)aGa>aTa	p.R1146I	PXDNL_ENST00000543296.1_Missense_Mutation_p.R1146I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1146					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)				CCCGTGGTCTCTACCCCTTTG	0.478000													36	231					1.59932e-28	2.32578e-28	1	1	0
PKD2	5311	broad.mit.edu	37	4	88996617	88996617	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:88996617G>A	ENST00000237596.2	+	15	2744	c.2678G>A	c.(2677-2679)aGg>aAg	p.R893K	PKD2_ENST00000508588.1_Missense_Mutation_p.R311K|PKD2_ENST00000502363.1_Missense_Mutation_p.R311K|PKD2_ENST00000511337.1_3'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	893	C-terminal coiled coil domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TAGGATGAAAGGCTGGGTCGT	0.478000													137	452					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242066203	242066203	+	Silent	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:242066203C>A	ENST00000403638.3	-	10	2218	c.2127G>T	c.(2125-2127)acG>acT	p.T709T	PASK_ENST00000234040.4_Silent_p.T709T|PASK_ENST00000405260.1_Silent_p.T709T|PASK_ENST00000358649.4_Silent_p.T709T|PASK_ENST00000544142.1_Silent_p.T523T|PASK_ENST00000539818.1_Silent_p.T493T	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	709					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGGAGCTGCCCGTGCAGCCAC	0.637000													59	144					2.5401e-28	3.68091e-28	1	1	0
TECRL	253017	broad.mit.edu	37	4	65147201	65147201	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:65147201G>T	ENST00000381210.3	-	10	1019	c.909C>A	c.(907-909)taC>taA	p.Y303*	TECRL_ENST00000507440.1_Nonsense_Mutation_p.Y303*	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	303					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CCTCATAGGTGTAGTTAGGAC	0.303000													19	63					3.99206e-14	4.9069e-14	1	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140731379	140731379	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:140731379C>A	ENST00000523390.1	+	1	1552	c.1552C>A	c.(1552-1554)Cac>Aac	p.H518N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTTCGACCACGAGCAGCT	0.687000													53	142					1.17673e-23	1.64185e-23	1	1	0
OR9G1	390174	broad.mit.edu	37	11	56468356	56468356	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:56468356T>A	ENST00000312153.1	+	1	493	c.493T>A	c.(493-495)Ttt>Att	p.F165I		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AACGTTTTCCTTTAACTTCTG	0.438000													34	186					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135254133	135254133	+	Silent	SNP	G	G	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:135254133G>T	ENST00000265605.2	-	5	698	c.630C>A	c.(628-630)acC>acA	p.T210T	ALDH8A1_ENST00000367847.2_Silent_p.T160T|ALDH8A1_ENST00000367845.2_Silent_p.T210T	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	210					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CCCTGGGCCCGGTTCCAAACA	0.552000													18	39					6.49762e-13	7.77831e-13	1	1	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	RNA	DEL	T	T	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:121116645delT	ENST00000437515.1	-	0	329																											CAAGCCCCCCTTTAAAAAAAA	0.393													8	126	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				8	263	---	---	---	---					
RASAL2	9462	broad.mit.edu	37	1	178412244	178412245	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:178412244_178412245insT	ENST00000448150.3	+	8	2126_2127	c.1308_1309insT	c.(1306-1311)gattgtfs	p.C437fs	RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.C455fs|RASAL2_ENST00000462775.1_Frame_Shift_Ins_p.C307fs	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	307	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AATTTGCAGAATTTGTCACCAG	0.421													164	124	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													14	416	---	---	---	---					
RGS18	64407	broad.mit.edu	37	1	192150520	192150520	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:192150520delC	ENST00000367460.3	+	4	563	c.382delC	c.(382-384)ctfs	p.P128fs		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	128	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGCAAGGGACCTCAACAAAT	0.328													34	140	---	---	---	---					
CAMSAP2	23271	broad.mit.edu	37	1	200822548	200822549	+	Frame_Shift_Ins	INS	-	-	A	rs11553541		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr1:200822548_200822549insA	ENST00000358823.2	+	13	4018_4019	c.3748_3749insA	c.(3748-3750)aaafs	p.K1250fs	CAMSAP2_ENST00000236925.4_Frame_Shift_Ins_p.K1261fs|CAMSAP2_ENST00000413307.2_Frame_Shift_Ins_p.K1234fs	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1261						cytoplasm|microtubule	protein binding										AGTAGTAAAACAAAAAAAACAG	0.366													9	305	---	---	---	---					
COL5A2	1290	broad.mit.edu	37	2	189943835	189943836	+	Splice_Site	INS	-	-	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:189943835_189943836insA	ENST00000374866.3	-	15	1235		c.e15-2			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGCTTCACCCTAAAAAAAAATG	0.381													7	196	---	---	---	---					
ALPP	250	broad.mit.edu	37	2	233243529	233243531	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:233243529_233243531delTGC	ENST00000392027.2	+	1	286_288	c.17_19delTGC	c.(16-21)atg>a	p.ML6del		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	6						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGCCCTGCAtgctgctgctgct	0.616													9	165	---	---	---	---					
KIF1A	547	broad.mit.edu	37	2	241705162	241705163	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:241705162_241705163insA	ENST00000498729.2	-	20	1978_1979	c.1732_1733insT	c.(1732-1734)caafs	p.Q578fs	KIF1A_ENST00000320389.7_Frame_Shift_Ins_p.Q569fs	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	569					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACTTTCTTGCCATTGACGTAG	0.609													13	83	---	---	---	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atc>a	p.IL15del		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	15					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													8	173	---	---	---	---					
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr3:126178522delT	ENST00000389709.3	-	7	2239	c.2186delA	c.(2185-2187)agfs	p.K729fs		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	729					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522													7	1038	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr4:134073569_134073571delCTG	ENST00000264360.4	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctc>ct	p.LC758del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	758	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581													7	150	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)del	p.PPA66del	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					4	2	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32523273	32523274	+	RNA	DEL	GA	GA	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr6:32523273_32523274delGA	ENST00000411500.1	-	0	458					NR_001298.1																						ATTCCACTGTGAGAGGGCTCAT	0.396													13	42	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149499116	149499117	+	RNA	DEL	AT	AT	-	rs61047652		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr7:149499116_149499117delAT	ENST00000378016.2	+	0	7495							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGCCCCCATGCCCCTGCAG	0.703													10	16	---	---	---	---					
FAM66D	100132923	broad.mit.edu	37	8	11994626	11994627	+	RNA	DEL	GT	GT	-	rs138516564	by1000genomes	TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr8:11994626_11994627delGT	ENST00000434078.2	+	0	608					NR_027425.1																						gtatttgtgcgtgtgtgtgtgt	0.510													13	153	---	---	---	---					
AGPAT6	137964	broad.mit.edu	37	8	41456690	41456690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr8:41456690delT	ENST00000396987.3	+	2	959	c.32delT	c.(31-33)atfs	p.I11fs		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	11					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			GATAGCCTGATTGTCAACCTT	0.507													8	522	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124361527	124361528	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr8:124361527_124361528insTT	ENST00000287394.5	-	14	1910_1911	c.1803_1804insAA	c.(1801-1806)aaaggcfs	p.G602fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTCTTACCTCTTTATCAGGCA	0.347													44	114	---	---	---	---					
DFNB31	25861	broad.mit.edu	37	9	117168754	117168754	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr9:117168754delG	ENST00000362057.3	-	9	2285	c.2117delC	c.(2116-2118)cafs	p.P706fs	DFNB31_ENST00000374059.3_Frame_Shift_Del_p.P355fs|DFNB31_ENST00000265134.6_Frame_Shift_Del_p.P323fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	706	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAGGGTGATGGGGGCAGAAG	0.642													46	165	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)del	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													8	165	---	---	---	---					
ARHGAP22	58504	broad.mit.edu	37	10	49687670	49687670	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr10:49687670delG	ENST00000374172.1	-	3	339	c.85delC	c.(85-87)gtfs	p.R30fs	ARHGAP22_ENST00000417912.2_Frame_Shift_Del_p.R155fs|ARHGAP22_ENST00000417247.2_Intron|ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000249601.4_Intron|ARHGAP22_ENST00000435790.2_Intron			Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	151					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGCGATCTACGGGCAGTACCT	0.652													35	82	---	---	---	---					
RP11-170M17.1	0	broad.mit.edu	37	10	65662624	65662624	+	RNA	DEL	G	G	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr10:65662624delG	ENST00000444770.1	+	0	494																											GTCTCTTGGTGGGGGCGTCCC	0.557													7	23	---	---	---	---					
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gct>g	p.DA183del	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													8	202	---	---	---	---					
FAM124A	220108	broad.mit.edu	37	13	51825780	51825780	+	Frame_Shift_Del	DEL	C	C	-	rs75220697		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr13:51825780delC	ENST00000322475.8	+	3	412	c.277delC	c.(277-279)ccfs	p.P94fs	FAM124A_ENST00000280057.6_Frame_Shift_Del_p.P130fs	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	94										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GCGGCGGAAGCCCCCCAAGGG	0.706													7	14	---	---	---	---					
LRP10	26020	broad.mit.edu	37	14	23341527	23341529	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr14:23341527_23341529delCCT	ENST00000359591.4	+	1	706_708	c.15_17delCCT	c.(13-18)acc>ac	p.TL5del	LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	5					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTTGGCCACCCTCCTCCTCCTC	0.670													10	223	---	---	---	---					
CDH8	1006	broad.mit.edu	37	16	61687592	61687592	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr16:61687592delC	ENST00000577390.1	-	12	3274	c.2320delG	c.(2320-2322)acfs	p.D774fs	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	774					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)		CTGAGGTAGTCAAAATTCTGG	0.473													53	121	---	---	---	---					
TRAF4	9618	broad.mit.edu	37	17	27075644	27075647	+	Frame_Shift_Del	DEL	TGGT	TGGT	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:27075644_27075647delTGGT	ENST00000262395.5	+	6	869_872	c.740_743delTGGT	c.(739-744)cgfs	p.LV247fs	TRAF4_ENST00000444415.3_Frame_Shift_Del_p.LV247fs|TRAF4_ENST00000262396.6_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	247					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AACACCGCCCTGGTGCTCTGCCCA	0.608													20	68	---	---	---	---					
BZRAP1	9256	broad.mit.edu	37	17	56386383	56386384	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr17:56386383_56386384insT	ENST00000355701.3	-	22	5119_5120	c.4249_4250insA	c.(4249-4251)ccgfs	p.P1417fs	BZRAP1_ENST00000268893.6_Frame_Shift_Ins_p.P1357fs|BZRAP1_ENST00000343736.4_Frame_Shift_Ins_p.P1417fs	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653													127	262	---	---	---	---					
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr18:34261459_34261460delAG	ENST00000257209.4	+	12	1493_1494	c.1371_1372delAG	c.(1369-1374)gcagfs	p.AE457fs	FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	457					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.460													7	130	---	---	---	---					
CD177	57126	broad.mit.edu	37	19	43858524	43858524	+	RNA	DEL	G	G	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:43858524delG	ENST00000378009.4	+	0	401				CD177_ENST00000607517.1_RNA|CD177_ENST00000378012.2_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CTCCCGCTTTGGGCCCCACAG	0.657													48	134	---	---	---	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctt>ct	p.LL23del		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													11	361	---	---	---	---					
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)del	p.L479del	LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			7	122	---	---	---	---					
DIDO1	11083	broad.mit.edu	37	20	61537401	61537402	+	Frame_Shift_Ins	INS	-	-	T	rs140153728		TCGA-86-8281-01A-11D-2284-08	TCGA-86-8281-10A-01D-2284-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	946d7c17-af72-4f34-8c3c-a9b3637e1b35	cb684d88-2465-4cef-883c-2b2aef431f20	g.chr20:61537401_61537402insT	ENST00000266070.4	-	6	1750_1751	c.1425_1426insA	c.(1423-1428)aaagacfs	p.D476fs	DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	476					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTGTGGTCTCTTTTTTTTCTG	0.490													7	311	---	---	---	---					
