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
APOB	338	broad.mit.edu	37	2	21231727	21231727	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:21231727C>A	ENST00000233242.1	-	26	8140	c.8013G>T	c.(8011-8013)aaG>aaT	p.K2671N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2671					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)	TTCTGATGATCTTTACTTTCA	0.418000													18	137					2.35188e-11	2.77469e-11	1	1	0
SPTB	6710	broad.mit.edu	37	14	65264532	65264532	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:65264532A>C	ENST00000389722.3	-	9	1150	c.1097T>G	c.(1096-1098)cTt>cGt	p.L366R	SPTB_ENST00000389720.3_Missense_Mutation_p.L366R|SPTB_ENST00000542895.1_Missense_Mutation_p.L366R|SPTB_ENST00000389721.5_Missense_Mutation_p.L366R|SPTB_ENST00000556626.1_Missense_Mutation_p.L366R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	366					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GATGGTAAAAAGTAGAACTTC	0.423000													8	94					0	0	1	0	0
STK38L	23012	broad.mit.edu	37	12	27468247	27468247	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:27468247G>A	ENST00000389032.3	+	9	970	c.801G>A	c.(799-801)agG>agA	p.R267R	STK38L_ENST00000539577.1_Silent_p.R174R	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	267	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					ACTCAAAGAGGAAAGCAGAAA	0.338000													11	35					0	0	1	0	0
IGLV3-27	28791	broad.mit.edu	37	22	23010828	23010828	+	RNA	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr22:23010828C>T	ENST00000390304.2	+	0	71																											TCCCCCTCCTCATTCTCTGCA	0.612000													4	8					0	0	1	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291781	5291781	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr18:5291781A>G	ENST00000357006.4	-	4	764	c.426T>C	c.(424-426)agT>agC	p.S142S	ZBTB14_ENST00000400143.3_Silent_p.S142S	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		GGCAATACTTACTTTTGGACT	0.448000													22	95					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10438615	10438615	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:10438615G>C	ENST00000245503.5	-	18	2426	c.2042C>G	c.(2041-2043)cCc>cGc	p.P681R	MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.P681R|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	681	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGTCTCATTGGGGATGATACA	0.413000													9	31					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987743	182987743	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:182987743A>C	ENST00000326505.3	+	2	687	c.157A>C	c.(157-159)Aat>Cat	p.N53H	MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.N53H|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.N53H|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	53					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATACCTCATAAATAGCTATGA	0.398000													19	101					0	0	1	0	0
APOBEC3G	60489	broad.mit.edu	37	22	39482340	39482340	+	Silent	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr22:39482340C>T	ENST00000407997.3	+	6	1149	c.792C>T	c.(790-792)gaC>gaT	p.D264D	APOBEC3G_ENST00000452957.2_Silent_p.D264D	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GCTTCCTGGACGTGATTCCCT	0.498000													8	86					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233348831	233348831	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:233348831C>G	ENST00000304546.1	-	7	1497	c.1287G>C	c.(1285-1287)gaG>gaC	p.E429D	ECEL1_ENST00000409941.1_Missense_Mutation_p.E429D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	429					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGTCGCTGCCCTCCATCTCCT	0.627000													4	94					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085																											CTCAGCCTTCCGCCGGGCCAG	0.672000													8	25					0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69105055	69105055	+	Splice_Site	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:69105055G>T	ENST00000361055.4	-	17	1304	c.1248_splice	c.e17-1	p.S417_splice	UBA3_ENST00000415609.2_Splice_Site_p.S376_splice|CTD-2013N24.2_ENST00000595925.1_RNA|UBA3_ENST00000349511.4_Splice_Site_p.S403_splice|UBA3_ENST00000540295.1_Splice_Site_p.S240_splice	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	417	Interaction with UBE2M core domain.				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		AGAGGTTACCGACTAGAAAAC	0.264000													15	43					6.31663e-08	7.20919e-08	1	1	0
ATP13A5	344905	broad.mit.edu	37	3	193007714	193007714	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:193007714C>A	ENST00000342358.4	-	26	3100	c.2983G>T	c.(2983-2985)Gtg>Ttg	p.V995L	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	995					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGCTGCTTCACATAGAGAAAT	0.388000													12	37					9.31168e-06	1.02919e-05	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117376424	117376424	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:117376424C>T	ENST00000321322.6	-	9	1988	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E393K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	603	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGGGAATTCGAAGGGCTGG	0.637000													7	39					0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14508054	14508054	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:14508054G>A	ENST00000454876.2	+	7	1092	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	SLC6A6_ENST00000360861.3_Missense_Mutation_p.A255T			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	255					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TTTTCCATTCGCCATGCTCCT	0.597000													33	78					0	0	1	0	0
CUL4A	8451	broad.mit.edu	37	13	113888215	113888215	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr13:113888215A>G	ENST00000451881.1	+	7	629	c.380A>G	c.(379-381)tAt>tGt	p.Y127C	CUL4A_ENST00000375441.3_Missense_Mutation_p.Y127C|CUL4A_ENST00000326335.4_Missense_Mutation_p.Y127C|CUL4A_ENST00000375440.4_Missense_Mutation_p.Y227C	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	227					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TCTTAGGTGTATAAAGATTCA	0.413000													11	33					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046795	42046795	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:42046795G>A	ENST00000372584.1	-	3	4688	c.3674C>T	c.(3673-3675)cCc>cTc	p.P1225L	HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1225L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1225L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1225L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1225					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTATGGCATGGGGAGGAAGGA	0.587000													13	105					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96690048	96690048	+	Silent	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:96690048C>T	ENST00000434632.1	-	17	2166	c.1707G>A	c.(1705-1707)ccG>ccA	p.P569P	GPAT2_ENST00000359548.4_Silent_p.P569P|GPAT2_ENST00000377137.3_Silent_p.P569P|GPAT2_ENST00000453542.1_Silent_p.P498P			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	569					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCCCCTGGGGCGGCACTCTGC	0.642000													5	24					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160067536	160067536	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:160067536C>T	ENST00000327245.5	-	10	1778	c.932G>A	c.(931-933)cGg>cAg	p.R311Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	311					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCATGCGCCGCTCAATCTT	0.478000													44	127					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28631664	28631664	+	Silent	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:28631664G>C	ENST00000264716.4	+	3	1256	c.393G>C	c.(391-393)cgG>cgC	p.R131R	FOSL2_ENST00000379619.1_Silent_p.R106R|FOSL2_ENST00000545753.1_Silent_p.R92R|FOSL2_ENST00000460736.1_3'UTR	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	131					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GCATCCGGCGGGAGAGGAACA	0.562000													3	32					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158300475	158300475	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:158300475C>A	ENST00000264192.3	-	1	179	c.58G>T	c.(58-60)Gct>Tct	p.A20S	CYTIP_ENST00000497432.1_Intron|CYTIP_ENST00000540637.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	20					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GCTGGCCCAGCGCAGAAGTCC	0.507000													21	68					2.89027e-11	3.39082e-11	1	1	0
FAM173B	134145	broad.mit.edu	37	5	10239183	10239183	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:10239183C>T	ENST00000511437.1	-	2	314	c.302G>A	c.(301-303)cGc>cAc	p.R101H	FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.R101H	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	101						integral to membrane		p.R101L(1)|p.R101H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACTCACAATGCGTCCGTCCCC	0.398000													13	78					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	53					0	0	1	0	0
CTBS	1486	broad.mit.edu	37	1	85029038	85029038	+	Missense_Mutation	SNP	G	G	A	rs77922958	by1000genomes	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:85029038G>A	ENST00000370630.4	-	6	907	c.859C>T	c.(859-861)Cgt>Tgt	p.R287C	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	287						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GGCACCTGACGTCCTGCAGCG	0.403000													4	51					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131755566	131755566	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:131755566A>G	ENST00000368648.3	-	6	582	c.510T>C	c.(508-510)tgT>tgC	p.C170C	EBF3_ENST00000355311.5_Silent_p.C170C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	170					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTCTATTGCCACAACTTTTCT	0.388000													8	78					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957444	35957444	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:35957444A>G	ENST00000274278.3	-	5	1278	c.921T>C	c.(919-921)caT>caC	p.H307H	UGT3A1_ENST00000507113.1_Silent_p.H273H|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Silent_p.H307H	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	307						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTGGGACTGATGGGTGTTCA	0.488000													7	63					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44063001	44063001	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr22:44063001C>T	ENST00000262726.7	-	17	2219	c.1966G>A	c.(1966-1968)Gtg>Atg	p.V656M	EFCAB6_ENST00000396231.2_Missense_Mutation_p.V504M	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	656	EF-hand 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AAGTCATGCACGTTAATTTTT	0.373000													14	65					0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128878731	128878731	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:128878731C>T	ENST00000296468.3	-	3	206	c.79G>A	c.(79-81)Gag>Aag	p.E27K	MFSD8_ENST00000541133.1_5'UTR|MFSD8_ENST00000513559.1_5'UTR|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	27					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TCTTCAGTCTCTAAAATGTCC	0.299000													20	38					0	0	1	0	0
STX17	55014	broad.mit.edu	37	9	102722405	102722405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:102722405C>T	ENST00000259400.6	+	6	686	c.550C>T	c.(550-552)Caa>Taa	p.Q184*	STX17_ENST00000534052.1_Nonsense_Mutation_p.Q184*|STX17_ENST00000525847.1_3'UTR|STX17_ENST00000525640.1_Nonsense_Mutation_p.Q184*	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	184	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TGAACTTAGCCAACTGGTCAC	0.333000													12	60					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29107975	29107975	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr22:29107975G>A	ENST00000544772.1	-	7	1487	c.51C>T	c.(49-51)ttC>ttT	p.F17F	CHEK2_ENST00000328354.6_Silent_p.F238F|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382580.2_Silent_p.F281F|CHEK2_ENST00000382578.1_Silent_p.F147F|CHEK2_ENST00000382566.1_Silent_p.F238F|CHEK2_ENST00000405598.1_Silent_p.F238F|CHEK2_ENST00000403642.1_Silent_p.F147F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.F238F|CHEK2_ENST00000348295.3_Silent_p.F238F|CHEK2_ENST00000402731.1_Silent_p.F238F	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	238			A -> S (in an osteogenic sarcoma sample; somatic mutation; might influence susceptibility to breast cancer; does not cause protein abrogation in familial colorectal cancer).		cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTTTCCTCTCGAAAGCCAGCT	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	49					0	0	1	0	0
GMNN	51053	broad.mit.edu	37	6	24781711	24781711	+	Missense_Mutation	SNP	G	G	T	rs150391376		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:24781711G>T	ENST00000230056.3	+	4	468	c.136G>T	c.(136-138)Gca>Tca	p.A46S	GMNN_ENST00000356509.3_Missense_Mutation_p.A46S	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	46					M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						ATAGCTGTCCGCAGGCTTGTC	0.343000													7	29					0.000157383	0.000168625	1	1	0
OC90	729330	broad.mit.edu	37	8	133044222	133044222	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:133044222A>T	ENST00000262283.5	-	16	1672	c.1573T>A	c.(1573-1575)Ttt>Att	p.F525I	OC90_ENST00000603859.1_Missense_Mutation_p.F313I|OC90_ENST00000254627.3_Missense_Mutation_p.F313I|OC90_ENST00000443356.2_Missense_Mutation_p.F329I			Q02509	OC90_HUMAN	otoconin 90	329					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GTCAGACAAAAGAGCATCTCT	0.522000													11	147					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38164660	38164660	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr13:38164660G>T	ENST00000379747.4	-	4	407	c.290C>A	c.(289-291)cCc>cAc	p.P97H	POSTN_ENST00000541481.1_Missense_Mutation_p.P97H|POSTN_ENST00000379743.4_Missense_Mutation_p.P97H|POSTN_ENST00000379749.4_Missense_Mutation_p.P97H|POSTN_ENST00000541179.1_Missense_Mutation_p.P97H|POSTN_ENST00000379742.4_Missense_Mutation_p.P97H	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	97	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATGGTCAATGGGCAAAACTGA	0.428000													8	19					3.86212e-05	4.20231e-05	1	1	0
ALDH1A2	8854	broad.mit.edu	37	15	58254324	58254324	+	Silent	SNP	C	C	G	rs141958697		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:58254324C>G	ENST00000249750.4	-	10	1904	c.1137G>C	c.(1135-1137)gtG>gtC	p.V379V	ALDH1A2_ENST00000537372.1_Silent_p.V358V|ALDH1A2_ENST00000559517.1_Silent_p.V283V|ALDH1A2_ENST00000558231.1_Silent_p.V350V|ALDH1A2_ENST00000347587.3_Silent_p.V341V	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	379					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CGCCCTCAGCCACACCACTCT	0.458000													19	49					0	0	1	0	0
CCDC50	152137	broad.mit.edu	37	3	191098047	191098047	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:191098047A>T	ENST00000392455.3	+	6	1146	c.548A>T	c.(547-549)cAa>cTa	p.Q183L	CCDC50_ENST00000392456.3_Missense_Mutation_p.Q359L	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	183						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AGAAAACTGCAAGAAGAAGAA	0.358000													8	27					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131190864	131190864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:131190864C>A	ENST00000337057.3	-	15	2627	c.2446G>T	c.(2446-2448)Gaa>Taa	p.E816*	EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000524581.1_Nonsense_Mutation_p.E194*|EPB41L2_ENST00000529208.1_Nonsense_Mutation_p.E746*|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000527411.1_Nonsense_Mutation_p.E746*|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.E816*|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525193.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	816					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCTACATTTTCCTGGATCACT	0.527000													55	242					2.12129e-23	2.66748e-23	1	1	0
HNF4G	3174	broad.mit.edu	37	8	76472624	76472624	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:76472624A>G	ENST00000396423.2	+	9	1263	c.1139A>G	c.(1138-1140)cAt>cGt	p.H380R	HNF4G_ENST00000354370.1_Missense_Mutation_p.H343R	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	343					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ATGCATCCACATTTGTCTCAA	0.388000													5	39					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35835331	35835331	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:35835331C>G	ENST00000187397.4	+	20	2776	c.2320C>G	c.(2320-2322)Cag>Gag	p.Q774E	ARPP21_ENST00000444190.1_Missense_Mutation_p.Q755E|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_Missense_Mutation_p.Q755E|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q775E|ARPP21_ENST00000417925.1_Missense_Mutation_p.Q775E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	774						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						GCCCACCCCTCAGAACAACCT	0.537000													16	67					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71835869	71835869	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:71835869G>T	ENST00000377245.4	+	5	617	c.409G>T	c.(409-411)Gac>Tac	p.D137Y	TJP2_ENST00000539225.1_Missense_Mutation_p.D168Y|TJP2_ENST00000453658.2_Missense_Mutation_p.D114Y|TJP2_ENST00000348208.4_Missense_Mutation_p.D137Y|TJP2_ENST00000535702.1_Missense_Mutation_p.D141Y|TJP2_ENST00000265384.7_Missense_Mutation_p.D137Y	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	137					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGATCAGGATGACCGGGCTTT	0.612000													4	18					0.00024832	0.000264707	1	1	0
ICOSLG	23308	broad.mit.edu	37	21	45656849	45656849	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr21:45656849C>T	ENST00000407780.3	-	3	434	c.307G>A	c.(307-309)Gtc>Atc	p.V103I	ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.V103I|ICOSLG_ENST00000344330.4_Missense_Mutation_p.V103I			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	103	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGGGGGGTGACGTTGAACAAG	0.597000													43	92					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13814732	13814732	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:13814732A>G	ENST00000265104.4	-	43	7316	c.7212T>C	c.(7210-7212)gaT>gaC	p.D2404D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2404	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAGGACTCCAATCAAGGATAG	0.363000									Kartagener syndrome				5	32					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971208	21971208	+	Splice_Site	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:21971208C>T	ENST00000579755.1	-	2	486		c.e2-1		CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000446177.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCATCATGACCTGCCAGAGAG	0.667000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	13					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134221420	134221420	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:134221420G>C	ENST00000359579.4	+	5	768	c.448G>C	c.(448-450)Gat>Cat	p.D150H	AKR1B10_ENST00000475559.1_Intron	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	150					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GGAGCTGGTGGATGAGGGGCT	0.517000													7	79					0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104679569	104679569	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:104679569G>T	ENST00000369878.3	+	1	1456	c.1332G>T	c.(1330-1332)aaG>aaT	p.K444N	CNNM2_ENST00000457502.2_Missense_Mutation_p.K202N|CNNM2_ENST00000369875.3_Missense_Mutation_p.K444N|CNNM2_ENST00000433628.2_Missense_Mutation_p.K444N	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	444					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCCGCACCAAGACGGTGGAGG	0.582000													6	63					0.0215528	0.0220784	1	1	0
OLFML2B	25903	broad.mit.edu	37	1	161954032	161954032	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:161954032G>A	ENST00000294794.3	-	8	2109	c.1686C>T	c.(1684-1686)agC>agT	p.S562S	OLFML2B_ENST00000367940.2_Silent_p.S563S|OLFML2B_ENST00000367938.1_Silent_p.S45S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	562	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCCGATCCAGCTGTACGGGA	0.577000													11	111					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97833482	97833482	+	Silent	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:97833482G>T	ENST00000297293.5	+	13	4760	c.4467G>T	c.(4465-4467)tcG>tcT	p.S1489S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1489				Missing (in Ref. 2; BAA83031).	early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGACCGACTCGGACATCGAGC	0.657000													10	79					0.00010058	0.000108317	1	1	0
ACTL6A	86	broad.mit.edu	37	3	179294649	179294649	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:179294649G>T	ENST00000429709.2	+	8	929	c.716G>T	c.(715-717)aGa>aTa	p.R239I	ACTL6A_ENST00000392662.1_Missense_Mutation_p.R197I|ACTL6A_ENST00000450518.2_Missense_Mutation_p.R197I|ACTL6A_ENST00000467615.1_3'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	239					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AACTGGAAAAGAAAAGAGAAG	0.423000													13	87					1.05317e-09	1.22191e-09	1	1	0
CYP17A1	1586	broad.mit.edu	37	10	104591347	104591347	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:104591347G>A	ENST00000369887.3	-	7	1332	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D		NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	387					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	CTGTGCCCTTGTCCACAGCAA	0.542000													14	35					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101114293	101114293	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:101114293G>A	ENST00000314742.8	-	5	1007	c.785C>T	c.(784-786)tCc>tTc	p.S262F	LINS_ENST00000560133.1_Missense_Mutation_p.S143F|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.S262F	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	262										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GTGGATTCTGGAGGCGATGAG	0.388000													5	54					0	0	1	0	0
NPW	283869	broad.mit.edu	37	16	2070260	2070260	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:2070260G>T	ENST00000329610.4	+	1	740	c.358G>T	c.(358-360)Gcc>Tcc	p.A120S	NPW_ENST00000566435.1_Missense_Mutation_p.A68S	NM_001099456.2	NP_001092926.2	Q8N729	NPW_HUMAN	neuropeptide W	120					feeding behavior|neuropeptide signaling pathway	extracellular region				kidney(1)	1						GAGCCCGCGCGCCCCAGAGCC	0.726000													3	3					0.115264	0.116372	1	1	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:7577114C>T	ENST00000420246.2	-	8	956	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_ENST00000359597.4_Missense_Mutation_p.C275Y|TP53_ENST00000455263.2_Missense_Mutation_p.C275Y|TP53_ENST00000269305.4_Missense_Mutation_p.C275Y|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C275Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGACAGGCACAAACACGCAC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	20					0	0	1	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22314901	22314901	+	RNA	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:22314901G>C	ENST00000390434.3	+	0	183																											CCTGGCTTCTGTCCTCCCTGC	0.552000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	53					0	0	1	0	0
EXOC5	10640	broad.mit.edu	37	14	57675357	57675357	+	Silent	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:57675357T>C	ENST00000413566.2	-	18	2456	c.2097A>G	c.(2095-2097)agA>agG	p.R699R	EXOC5_ENST00000340918.7_Silent_p.R634R	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	699					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						GGCGGGCAGATCTATAATCAG	0.428000													42	169					0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	9991714	9991714	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:9991714C>T	ENST00000263663.5	+	4	438	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	84					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCAGTATATTCTTTATCAACA	0.328000													11	70					0	0	1	0	0
ZDHHC12	84885	broad.mit.edu	37	9	131484290	131484290	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:131484290G>T	ENST00000372667.5	-	3	384	c.355C>A	c.(355-357)Ctg>Atg	p.L119M	ZDHHC12_ENST00000372672.2_Missense_Mutation_p.L105M|ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372663.4_Missense_Mutation_p.L105M			Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	105						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						TCACTCACCAGCACCAGGCAG	0.627000													9	66					9.70103e-10	1.13179e-09	1	1	0
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr22:42538870A>C	ENST00000433992.1	-	0	475				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													3	38					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143558824	143558824	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:143558824G>A	ENST00000517894.1	+	6	2195	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	BAI1_ENST00000323289.5_Missense_Mutation_p.R434H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	434	TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GATCGCACGCGCACCTGCAGG	0.642000													16	129					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	95025660	95025660	+	Translation_Start_Site	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:95025660C>T	ENST00000542556.1	-	1	13	c.3G>A	c.(1-3)atG>atA	p.M1I	PON3_ENST00000265627.5_Start_Codon_SNP_p.M1I|PON3_ENST00000427422.1_Start_Codon_SNP_p.M1I			P27169	PON1_HUMAN	paraoxonase 1	1					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CGAGCTTCCCCATGGTCTCGG	0.706000													30	93					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631588	32631588	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:32631588A>G	ENST00000242310.4	-	1	4079	c.3990T>C	c.(3988-3990)gaT>gaC	p.D1330D		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1330					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTTCTTCATTATCATTATGAA	0.423000													19	260					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393392	139393392	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:139393392G>A	ENST00000277541.6	-	33	6214	c.6139C>T	c.(6139-6141)Ctc>Ttc	p.L2047F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2047					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTCTTCAGGAGCACAACTGCG	0.592000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			20	175					0	0	1	0	0
OMP	4975	broad.mit.edu	37	11	76814046	76814046	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:76814046G>A	ENST00000529803.1	+	1	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H	CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	54					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCTGTGTACCGCCTCAACTTC	0.637000													19	42					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39914005	39914005	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:39914005C>A	ENST00000393931.3	-	11	1923	c.1805G>T	c.(1804-1806)cGc>cTc	p.R602L	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R602L|JUP_ENST00000393930.1_Missense_Mutation_p.R602L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	602					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGCAGCCACGCGCTGGATGTT	0.672000													8	24					0.000274275	0.000290898	1	1	0
ELTD1	64123	broad.mit.edu	37	1	79383705	79383705	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:79383705G>A	ENST00000370742.3	-	11	1555	c.1492C>T	c.(1492-1494)Cac>Tac	p.H498Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	498					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAGAAGTAGTGTAGCAGTCCG	0.343000													5	86					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424196	69424196	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chrX:69424196T>C	ENST00000333026.3	+	6	789	c.689T>C	c.(688-690)gTt>gCt	p.V230A		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	230					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GAGAACGAAGTTTTCAATCAG	0.468000													6	11					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34400150	34400150	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:34400150C>T	ENST00000374789.3	-	25	4343	c.4018G>A	c.(4018-4020)Gcg>Acg	p.A1340T	PARD3_ENST00000374794.3_Missense_Mutation_p.A1228T|PARD3_ENST00000374788.3_Missense_Mutation_p.A1337T|PARD3_ENST00000545693.1_Missense_Mutation_p.A1324T|PARD3_ENST00000346874.4_Missense_Mutation_p.A1303T|PARD3_ENST00000350537.4_Missense_Mutation_p.A1294T|PARD3_ENST00000374790.3_Missense_Mutation_p.A1280T|PARD3_ENST00000545260.1_Missense_Mutation_p.A1250T	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1340					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)				TTCAGCCTCGCAACCTGAGAA	0.542000													16	40					0	0	1	0	0
TRIP6	7205	broad.mit.edu	37	7	100466242	100466242	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:100466242G>A	ENST00000200457.4	+	4	849	c.489G>A	c.(487-489)ccG>ccA	p.P163P		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	163					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCAGCACCCCGGCTGGCCCAG	0.711000													14	52					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969271	118969271	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:118969271G>C	ENST00000334549.1	+	3	616	c.616G>C	c.(616-618)Gct>Cct	p.A206P		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	206						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CATCATCAGTGCTGAAGAGCT	0.542000													14	97					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58615370	58615370	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:58615370C>T	ENST00000317147.5	-	11	1426	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	CNOT1_ENST00000441024.2_Missense_Mutation_p.G365E|CNOT1_ENST00000569240.1_Missense_Mutation_p.G365E	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	365					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AATTTGAAATCCAGGATGGTC	0.358000													9	36					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433526	40433526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:40433526C>T	ENST00000221347.6	-	2	750	c.743G>A	c.(742-744)tGg>tAg	p.W248*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	248	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTGGGTGCCCCAGGCAGACGT	0.587000													28	59					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2025058	2025058	+	Silent	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:2025058C>T	ENST00000568546.1	+	7	722	c.594C>T	c.(592-594)gtC>gtT	p.V198V		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	198					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						ACAGCGCCGTCACCTCACTGG	0.662000													6	61					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101922383	101922383	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:101922383G>A	ENST00000348070.1	-	12	1442	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCSK6_ENST00000358417.3_Silent_p.D481D|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Silent_p.D316D|PCSK6_ENST00000344273.2_Silent_p.D481D|PCSK6_ENST00000398181.2_Silent_p.D481D	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	482					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAGCTTCTGCGTCCACCAAAC	0.567000													5	18					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53092796	53092796	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:53092796T>A	ENST00000276480.7	-	9	846	c.163A>T	c.(163-165)Aaa>Taa	p.K55*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	55						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGCAGGGATTTCCTTTTGTTG	0.493000													16	161					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72963052	72963052	+	Silent	SNP	T	T	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:72963052T>A	ENST00000262209.4	-	15	2073	c.1866A>T	c.(1864-1866)ccA>ccT	p.P622P	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	622						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTTCTGTAATTGGACATTTAT	0.333000													7	61					0	0	1	0	0
TIMM13	26517	broad.mit.edu	37	19	2427444	2427444	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:2427444T>C	ENST00000215570.3	-	1	448	c.88A>G	c.(88-90)Atc>Gtc	p.I30V	TIMM13_ENST00000591871.1_Intron	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN	translocase of inner mitochondrial membrane 13 homolog (yeast)	30					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding			endometrium(1)|prostate(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACGGCGATCTGCACTTTC	0.711000													9	33					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107955180	107955180	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:107955180G>A	ENST00000317357.5	+	6	1791	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	378	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCCCCTTGGCGTCCCGCCTCG	0.647000													54	134					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31360929	31360929	+	Silent	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:31360929C>A	ENST00000349752.5	-	1	663	c.24G>T	c.(22-24)ctG>ctT	p.L8L	GALNT14_ENST00000324589.5_Silent_p.L8L|GALNT14_ENST00000356174.3_Silent_p.L8L	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	8						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTGGCAGAACCAGCCGACGAG	0.672000													7	63					0.0381472	0.038888	1	1	0
FUT5	2527	broad.mit.edu	37	19	5867208	5867208	+	Missense_Mutation	SNP	C	C	T	rs140525878	byFrequency	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:5867208C>T	ENST00000252675.5	-	5	1091	c.529G>A	c.(529-531)Gac>Aac	p.D177N	FUT5_ENST00000588525.1_Missense_Mutation_p.D177N			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	177					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GTGAAGATGTCGGAGTCGCTG	0.657000													16	55					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390356	45390356	+	Missense_Mutation	SNP	C	C	A	rs114654066	by1000genomes	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:45390356C>A	ENST00000371438.1	+	2	443	c.85C>A	c.(85-87)Ccc>Acc	p.P29T	RUNX2_ENST00000371432.3_Missense_Mutation_p.P15T|RUNX2_ENST00000465038.2_Missense_Mutation_p.P29T|RUNX2_ENST00000541979.1_Missense_Mutation_p.P97T|RUNX2_ENST00000576263.1_Missense_Mutation_p.P29T|RUNX2_ENST00000352853.5_Missense_Mutation_p.P97T|RUNX2_ENST00000359524.5_Missense_Mutation_p.P15T|RUNX2_ENST00000371436.6_Missense_Mutation_p.P29T	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	29					negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCGCTTCAGCCCCCCCTCCAG	0.642000													38	76					1.41504e-22	1.76879e-22	1	1	0
FMN2	56776	broad.mit.edu	37	1	240341300	240341300	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:240341300G>T	ENST00000319653.9	+	3	2092	c.1862G>T	c.(1861-1863)cGa>cTa	p.R621L	RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	621					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.R764L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTCCTAGGCGAGTTCCATCC	0.448000													20	39					6.33239e-15	7.68671e-15	1	1	0
CNBD1	168975	broad.mit.edu	37	8	88297017	88297017	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:88297017G>C	ENST00000518476.1	+	7	934	c.883G>C	c.(883-885)Gca>Cca	p.A295P		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	295										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TAAAATCCCAGCAAAGGGATA	0.363000													6	5					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6746537	6746537	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:6746537C>T	ENST00000230859.6	+	7	835	c.706C>T	c.(706-708)Cca>Tca	p.P236S		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	236	PAP-associated.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCCCTGCTGCCAGGTAAGGG	0.607000													4	109					0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61994708	61994708	+	Missense_Mutation	SNP	G	G	C	rs148474991		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:61994708G>C	ENST00000323322.5	-	5	657	c.615C>G	c.(613-615)atC>atG	p.I205M	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.I110M|GH1_ENST00000458650.2_Missense_Mutation_p.I190M|GH1_ENST00000351388.4_Missense_Mutation_p.I165M	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	205			I -> M (in short stature; idiopathic autosomal).		glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	p.I205M(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGCACTGCACGATGCGCAGGA	0.592000													26	71					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33263887	33263887	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:33263887G>A	ENST00000497454.1	-	6	1181	c.686C>T	c.(685-687)cCc>cTc	p.P229L	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.P147L|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	229					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGGATCGCCGGGGAGGGCCAG	0.682000													24	162					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525975	176525975	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:176525975A>G	ENST00000367662.3	+	2	1681	c.517A>G	c.(517-519)Acc>Gcc	p.T173A	PAPPA2_ENST00000367661.3_Missense_Mutation_p.T173A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	173	Poly-Thr.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCCACTACTACCACCGCCAT	0.577000													46	72					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71491562	71491562	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:71491562G>T	ENST00000296755.7	+	5	2678	c.2380G>T	c.(2380-2382)Gct>Tct	p.A794S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	794						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGCCGCAGAGGCTGTCGCTGC	0.537000													9	76					3.09899e-07	3.49885e-07	1	1	0
C6	729	broad.mit.edu	37	5	41199878	41199878	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:41199878C>G	ENST00000263413.3	-	4	701	c.437G>C	c.(436-438)tGt>tCt	p.C146S	C6_ENST00000337836.5_Missense_Mutation_p.C146S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	146	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACCACTGTCACAGCGAAATTT	0.418000													15	88					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143044493	143044493	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:143044493G>A	ENST00000513000.1	-	21	2402	c.1969C>T	c.(1969-1971)Cac>Tac	p.H657Y	INPP4B_ENST00000509777.1_Missense_Mutation_p.H657Y|INPP4B_ENST00000508116.1_Missense_Mutation_p.H657Y|INPP4B_ENST00000308502.4_Missense_Mutation_p.H657Y|INPP4B_ENST00000262992.4_Missense_Mutation_p.H657Y	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	657					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CCCACTGTGTGAAGCTGCTGT	0.363000													5	46					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137803316	137803316	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:137803316A>T	ENST00000239938.4	+	2	1450	c.1178A>T	c.(1177-1179)gAa>gTa	p.E393V		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	393					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACACAGGCGAAAAGCCCTTC	0.582000													18	120					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228169768	228169768	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:228169768A>G	ENST00000396578.3	+	47	4383	c.4221A>G	c.(4219-4221)gaA>gaG	p.E1407E	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1407	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CAGCTGGAGAAAAAGGCAACA	0.473000													5	30					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178507032	178507032	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:178507032C>A	ENST00000315475.6	+	5	1905	c.1599C>A	c.(1597-1599)ttC>ttA	p.F533L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGAAACCTTTCATCTGCAGCT	0.383000													32	56					3.57733e-08	4.10513e-08	1	1	0
NAV3	89795	broad.mit.edu	37	12	78392148	78392148	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:78392148G>A	ENST00000397909.2	+	7	945	c.772G>A	c.(772-774)Gga>Aga	p.G258R	NAV3_ENST00000228327.6_Missense_Mutation_p.G258R|NAV3_ENST00000266692.7_Missense_Mutation_p.G258R|NAV3_ENST00000536525.2_Missense_Mutation_p.G258R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	258						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCCTGCTGCAGGAAGCAGCAG	0.418000										HNSCC(70;0.22)			12	35					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95482892	95482892	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:95482892C>T	ENST00000356884.6	-	4	819	c.752G>A	c.(751-753)cGc>cAc	p.R251H	BICD2_ENST00000375512.3_Missense_Mutation_p.R251H	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	251					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTCTGTTCGCGCTCCGTCTT	0.587000													12	66					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838939	100838939	+	Silent	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:100838939C>T	ENST00000369208.3	-	12	2381	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	SIM1_ENST00000262901.4_Silent_p.V533V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	533	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGAACTGACCACACTATCTT	0.423000													12	35					0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014592	114014592	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:114014592G>T	ENST00000481065.1	+	3	3078	c.463G>T	c.(463-465)Ggt>Tgt	p.G155C	TIGIT_ENST00000486257.1_Missense_Mutation_p.G88C|TIGIT_ENST00000383671.3_Missense_Mutation_p.G88C			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	88					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						AGTGGCCCCAGGTCCCGGCCT	0.592000													13	76					0.00010058	0.000108317	1	1	0
PHRF1	57661	broad.mit.edu	37	11	592631	592631	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:592631G>A	ENST00000264555.5	+	6	705	c.577G>A	c.(577-579)Gac>Aac	p.D193N	PHRF1_ENST00000533464.1_Missense_Mutation_p.D189N|PHRF1_ENST00000416188.2_Missense_Mutation_p.D193N|PHRF1_ENST00000413872.2_Missense_Mutation_p.D192N	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	193							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGGCAGGAGCGACCGTGAGGA	0.647000													33	82					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218700800	218700800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:218700800G>A	ENST00000171887.4	-	18	3219	c.2767C>T	c.(2767-2769)Cag>Tag	p.Q923*	TNS1_ENST00000419504.1_Nonsense_Mutation_p.Q923*|TNS1_ENST00000430930.1_Nonsense_Mutation_p.Q923*	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	923						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GAGACACACTGGACAGGGGAG	0.617000													16	75					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11584076	11584076	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:11584076G>C	ENST00000294484.6	+	11	2578	c.2440G>C	c.(2440-2442)Gtc>Ctc	p.V814L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V814L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	814					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGCTCAGGGGTCCCCTGGGC	0.652000													9	57					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088800	57088800	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:57088800A>C	ENST00000330619.8	+	6	1689	c.1003A>C	c.(1003-1005)Act>Cct	p.T335P	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.T335P	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GAGGGTCCACACTGGAGAGAA	0.443000													20	62					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771499	143771499	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:143771499T>C	ENST00000408898.2	+	1	225	c.187T>C	c.(187-189)Tca>Cca	p.S63P		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTTCTTCCTCTCACACCTGGC	0.577000													7	112					0	0	1	0	0
CAPZA1	829	broad.mit.edu	37	1	113197106	113197106	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:113197106G>A	ENST00000263168.3	+	5	911	c.239G>A	c.(238-240)gGt>gAt	p.G80D	CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	80					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGAGCACGGTGACCTGGGT	0.348000													7	34					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196712698	196712698	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:196712698T>C	ENST00000367429.4	+	20	3490	c.3250T>C	c.(3250-3252)Ttt>Ctt	p.F1084L		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1084	Sushi 18.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTATGAAATGTTTGGGGATGA	0.388000													29	137					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38943512	38943512	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:38943512C>T	ENST00000355481.4	+	13	1429	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	RYR1_ENST00000360985.3_Missense_Mutation_p.T433M|RYR1_ENST00000359596.3_Missense_Mutation_p.T433M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	433					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)	CCCGCTGGCACGGCGCTGCCC	0.657000													11	16					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992391	96992391	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:96992391T>C	ENST00000361124.4	+	1	457	c.46T>C	c.(46-48)Tcc>Ccc	p.S16P	ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.S8P|ITPRIPL1_ENST00000536814.1_5'UTR|ITPRIPL1_ENST00000542887.1_5'UTR	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	8						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCAGAGGCCTCCATGGCTGT	0.522000													25	73					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82321747	82321747	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr9:82321747C>T	ENST00000376520.4	+	11	1697	c.869C>T	c.(868-870)cCg>cTg	p.P290L	TLE4_ENST00000376552.2_Missense_Mutation_p.P290L|TLE4_ENST00000265284.6_Missense_Mutation_p.P265L|TLE4_ENST00000376537.4_Missense_Mutation_p.P290L|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Intron			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAAGATGCCCCGATTAGTCCA	0.517000													16	183					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	159976338	159976338	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:159976338C>T	ENST00000326448.7	-	20	2741	c.2309G>A	c.(2308-2310)aGc>aAc	p.S770N	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S941N|IFT80_ENST00000496589.1_Missense_Mutation_p.S633N|IFT80_ENST00000483465.1_Missense_Mutation_p.S633N	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	770						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TATACTCTTGCTGGATTGGCT	0.348000													4	58					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115750948	115750948	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:115750948C>G	ENST00000264363.2	-	13	3175	c.2497G>C	c.(2497-2499)Gag>Cag	p.E833Q		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	833	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATTATTACCTCTGGATCCATA	0.343000													5	26					0	0	1	0	0
QKI	9444	broad.mit.edu	37	6	163991740	163991740	+	Nonstop_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:163991740T>C	ENST00000361752.3	+	8	1575	c.1024T>C	c.(1024-1026)Taa>Caa	p.*342Q	QKI_ENST00000361195.2_Nonstop_Mutation_p.*334Q	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	0					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CACCGGCAACTAACCTATGAC	0.438000													82	266					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81064919	81064919	+	Splice_Site	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:81064919A>G	ENST00000334512.5	+	20	2858		c.e20-1			NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1						transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GTCTGTCTGCAGTGCTTTGAT	0.552000													14	50					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68150614	68150614	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:68150614C>G	ENST00000262215.3	-	22	3642	c.3253G>C	c.(3253-3255)Gat>Cat	p.D1085H	ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D539H	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1085					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.D1085Y(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGAGCCTGATCTTTTGTTCCA	0.398000													4	77					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48874624	48874624	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:48874624G>T	ENST00000262105.2	+	3	456	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	MCM4_ENST00000523944.1_Missense_Mutation_p.D83Y	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	83					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			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TATCCCTCTTGACTTTGATGT	0.453000													7	93					0.27861	0.27861	1	1	0
MAPK7	5598	broad.mit.edu	37	17	19285691	19285691	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:19285691C>T	ENST00000308406.5	+	5	2461	c.2075C>T	c.(2074-2076)cCg>cTg	p.P692L	MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.P553L|MAPK7_ENST00000395604.3_Missense_Mutation_p.P692L|MAPK7_ENST00000395602.4_Missense_Mutation_p.P692L	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	692	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTGGCCTGCCGCCCCCAGAC	0.632000													5	107					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53540558	53540558	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:53540558C>G	ENST00000357758.3	-	5	1480	c.1297G>C	c.(1297-1299)Gaa>Caa	p.E433Q	DDHD1_ENST00000323669.5_Missense_Mutation_p.E433Q|DDHD1_ENST00000395606.1_Missense_Mutation_p.E440Q	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	433					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTGCAGCTTCTCTCATCCTA	0.323000													13	35					0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74240200	74240200	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:74240200G>T	ENST00000261921.7	+	5	1885	c.1559G>T	c.(1558-1560)tGg>tTg	p.W520L	LOXL1_ENST00000567675.1_3'UTR	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	520	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GACTGCCAGTGGATCGACATA	0.577000													22	108					5.45024e-15	6.65436e-15	1	1	0
GH1	2688	broad.mit.edu	37	17	61994788	61994788	+	Missense_Mutation	SNP	C	C	G	rs151243538		TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:61994788C>G	ENST00000323322.5	-	5	577	c.535G>C	c.(535-537)Gat>Cat	p.D179H	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.D84H|GH1_ENST00000458650.2_Missense_Mutation_p.D164H|GH1_ENST00000351388.4_Missense_Mutation_p.D139H	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	179					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						AGTGCGTCATCGTTGTGTGAG	0.542000													27	104					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146567274	146567274	+	Silent	SNP	A	A	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:146567274A>T	ENST00000281317.5	+	4	1909	c.699A>T	c.(697-699)ggA>ggT	p.G233G	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	233						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTGTGAAGGAGCGGGATATG	0.368000													13	53					0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4766896	4766896	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr20:4766896C>T	ENST00000379400.3	-	11	1087	c.892G>A	c.(892-894)Gta>Ata	p.V298I	RASSF2_ENST00000379376.2_Missense_Mutation_p.V298I|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	298	SARAH.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AGCTTCTTTACTTCCCGATCT	0.527000													57	143					0	0	1	0	0
TTPA	7274	broad.mit.edu	37	8	63973974	63973974	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:63973974T>A	ENST00000260116.4	-	5	705	c.674A>T	c.(673-675)cAt>cTt	p.H225L	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	225	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	GTTGTTCCCATGCATGTGAAT	0.388000													3	37					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563595	22563595	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr20:22563595G>A	ENST00000419308.2	-	2	469	c.267C>T	c.(265-267)ggC>ggT	p.G89G	FOXA2_ENST00000377115.4_Silent_p.G89G|FOXA2_ENST00000319993.4_Silent_p.G95G	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	89	Transactivation domain 1 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					AGCCGCCCATGCCCGCCATGG	0.771000													4	16					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36483394	36483394	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:36483394G>A	ENST00000342292.4	-	11	6078	c.6058C>T	c.(6058-6060)Ccc>Tcc	p.P2020S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2020						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACTTCCCAGGGACAGGTCTCA	0.542000													9	91					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195595561	195595561	+	Silent	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:195595561C>A	ENST00000333602.6	-	12	2180	c.1563G>T	c.(1561-1563)gtG>gtT	p.V521V	TNK2_ENST00000392400.1_Silent_p.V521V|TNK2_ENST00000381916.2_Silent_p.V599V|TNK2_ENST00000428187.1_Silent_p.V553V	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	521				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GGTCCTCGCTCACAGGGTCAT	0.652000													4	39					1.23904e-05	1.3552e-05	1	1	0
RNF43	54894	broad.mit.edu	37	17	56492716	56492716	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:56492716T>C	ENST00000584437.1	-	1	2178	c.223A>G	c.(223-225)Ata>Gta	p.I75V	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000583753.1_Missense_Mutation_p.I75V|RNF43_ENST00000407977.2_Missense_Mutation_p.I75V|RNF43_ENST00000577716.1_Missense_Mutation_p.I75V|RNF43_ENST00000500597.2_Missense_Mutation_p.I75V			Q68DV7	RNF43_HUMAN	ring finger protein 43	75						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGGAGTTATTTCAGCAACA	0.373000													6	52					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230564	7230564	+	Silent	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:7230564G>T	ENST00000379938.2	+	10	2769	c.2232G>T	c.(2230-2232)ctG>ctT	p.L744L	RREB1_ENST00000379933.3_Silent_p.L744L|RREB1_ENST00000349384.6_Silent_p.L744L|RREB1_ENST00000334984.6_Silent_p.L744L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	744					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGGCCGAGCTGGTGGACGCCT	0.647000													30	73					2.42023e-17	2.9897e-17	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16907242	16907242	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:16907242G>T	ENST00000430580.2	-	16	2476	c.1589C>A	c.(1588-1590)cCa>cAa	p.P530Q		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	530	NBPF 2.					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)		GAGGCTACCTGGGAGAATGTT	0.418000													12	826					6.49762e-13	7.70904e-13	1	1	0
LARP4B	23185	broad.mit.edu	37	10	875361	875361	+	Silent	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:875361C>A	ENST00000316157.3	-	10	1129	c.1089G>T	c.(1087-1089)acG>acT	p.T363T		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	363							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTGCTGACCACGTCTGGGGAG	0.507000													10	20					0.000442599	0.000467065	1	1	0
LPAL2	80350	broad.mit.edu	37	6	160921853	160921853	+	RNA	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:160921853G>A	ENST00000335388.5	-	0	285					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TGCTGGTGTGGCGTCATAGAT	0.453000													62	183					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826191	46826191	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:46826191G>C	ENST00000283296.7	-	17	3737	c.3449C>G	c.(3448-3450)aCc>aGc	p.T1150S	GPR116_ENST00000362015.4_Missense_Mutation_p.T1150S|GPR116_ENST00000265417.7_Missense_Mutation_p.T1150S|GPR116_ENST00000545669.1_Missense_Mutation_p.T579S|GPR116_ENST00000456426.2_Missense_Mutation_p.T1008S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCGGGGCTGGGTGGCTCCCAG	0.552000													4	40					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452086	138452086	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:138452086T>C	ENST00000344876.4	-	1	1543	c.1157A>G	c.(1156-1158)gAc>gGc	p.D386G	PCDH18_ENST00000507846.1_Missense_Mutation_p.D166G|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D386G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	386	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGAATCCTTGTCCTGAACTCT	0.343000													15	41					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48610945	48610945	+	Splice_Site	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:48610945C>A	ENST00000328333.8	-	82	6726		c.e82+1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTAGACTCACCTTCAGGCCA	0.577000													29	83					5.60225e-13	6.6845e-13	1	1	0
SPHK2	56848	broad.mit.edu	37	19	49132281	49132281	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:49132281G>T	ENST00000443164.1	+	5	2107	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	SPHK2_ENST00000600537.1_Missense_Mutation_p.D347Y|SPHK2_ENST00000245222.4_Missense_Mutation_p.D406Y|SPHK2_ENST00000340932.3_Missense_Mutation_p.D368Y|SPHK2_ENST00000599748.1_Missense_Mutation_p.D370Y|SPHK2_ENST00000598088.1_Missense_Mutation_p.D406Y|SPHK2_ENST00000599029.1_Missense_Mutation_p.D370Y			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	406					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCTAACCCCAGAcccagcccc	0.692000													7	56					0.27861	0.27861	1	1	0
COL5A2	1290	broad.mit.edu	37	2	189916191	189916191	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:189916191G>A	ENST00000374866.3	-	42	3060	c.2786C>T	c.(2785-2787)gCg>gTg	p.A929V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	929					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)			TAGGGGTCCCGCAGGTCCTGG	0.577000													4	39					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43538706	43538706	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:43538706T>C	ENST00000265351.7	-	4	536	c.326A>G	c.(325-327)gAg>gGg	p.E109G		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	109					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AATATGGTTCTCCTCTTCCAA	0.408000													33	143					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525684	176525684	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:176525684G>T	ENST00000367662.3	+	2	1390	c.226G>T	c.(226-228)Ggg>Tgg	p.G76W	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G76W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	76					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGCAGGGCTGGGAACTACCT	0.567000													30	251					5.45727e-16	6.70191e-16	1	1	0
LRRN1	57633	broad.mit.edu	37	3	3886868	3886868	+	Silent	SNP	T	T	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:3886868T>A	ENST00000319331.3	+	2	1304	c.543T>A	c.(541-543)gtT>gtA	p.V181V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	181						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AATTGAAAGTTATTGATAGTC	0.398000													16	66					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50040717	50040717	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:50040717G>A	ENST00000335154.5	-	25	3180	c.2947C>T	c.(2947-2949)Cgg>Tgg	p.R983W	FMNL3_ENST00000293590.5_Missense_Mutation_p.R983W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R982W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R932W	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	983					actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TAAACAGGCCGGTGTTCCTTG	0.587000													16	52					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48275342	48275342	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:48275342G>A	ENST00000225964.5	-	8	728	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	204	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TCACCAGGGGGACCTTGGAAG	0.488000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	47					0	0	1	0	0
CRYZL1	9946	broad.mit.edu	37	21	34968063	34968063	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr21:34968063G>C	ENST00000361534.2	-	12	1089	c.950C>G	c.(949-951)tCa>tGa	p.S317*	CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000381540.3_Nonsense_Mutation_p.S293*|CRYZL1_ENST00000381554.3_Nonsense_Mutation_p.S293*|CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Nonsense_Mutation_p.S278*			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	293					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						TTGTACATTTGACAAATTCCA	0.363000													4	38					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109463294	109463294	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:109463294A>G	ENST00000295124.4	+	12	1484	c.1424A>G	c.(1423-1425)gAg>gGg	p.E475G	CCDC138_ENST00000412964.2_Missense_Mutation_p.E475G	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	475										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CATTCTGTGGAGAATAAACCA	0.373000													8	32					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10219337	10219337	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:10219337G>A	ENST00000418404.3	-	27	3907	c.3744C>T	c.(3742-3744)aaC>aaT	p.N1248N	MYH13_ENST00000570743.1_Silent_p.N1248N|MYH13_ENST00000252172.4_Silent_p.N1248N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1248					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCTTTCTATGTTACTCTTTA	0.408000													20	27					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242004861	242004861	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:242004861C>T	ENST00000310397.8	+	21	2860	c.2860C>T	c.(2860-2862)Cgc>Tgc	p.R954C	SNED1_ENST00000401884.1_Missense_Mutation_p.R954C|SNED1_ENST00000405547.3_Missense_Mutation_p.R954C|SNED1_ENST00000342631.6_Missense_Mutation_p.R954C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	954	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CTCCTACCGCCGCACAGACTT	0.637000													25	71					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109153073	109153073	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:109153073A>T	ENST00000261483.4	+	13	3095	c.2043A>T	c.(2041-2043)aaA>aaT	p.K681N		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	681					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CTTCAGGAAAACCTGTGGAAG	0.443000													23	57					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94528707	94528707	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:94528707C>A	ENST00000330836.5	-	3	1110	c.979G>T	c.(979-981)Gac>Tac	p.D327Y	DDX24_ENST00000555054.1_Missense_Mutation_p.D284Y|DDX24_ENST00000544005.1_Missense_Mutation_p.D77Y	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	327	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AACGCCTGGTCTGAGACAGTG	0.512000													46	124					2.0833e-19	2.58872e-19	1	1	0
LRGUK	136332	broad.mit.edu	37	7	133884068	133884068	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:133884068G>C	ENST00000285928.2	+	14	1711	c.1642G>C	c.(1642-1644)Gga>Cga	p.G548R		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	548	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GCGGAGAAAAGGATTATTCAG	0.363000													13	124					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78782855	78782855	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:78782855T>G	ENST00000258886.8	+	17	2317	c.2168T>G	c.(2167-2169)tTt>tGt	p.F723C		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	723							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGCCCTTCATTTTTTGATAAA	0.323000													13	34					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34190302	34190302	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:34190302A>G	ENST00000373381.4	-	18	2875	c.2699T>C	c.(2698-2700)aTa>aCa	p.I900T		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	860	Sushi 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGCAGTGTTATAGCTGAAAG	0.517000													7	41					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884893	12884893	+	Silent	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:12884893C>T	ENST00000535591.1	-	4	1413	c.1218G>A	c.(1216-1218)agG>agA	p.R406R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	406										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCTTGGGGTGCCTTAAGTGCC	0.498000													29	238					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112130610	112130610	+	Silent	SNP	C	C	A	rs148699934	by1000genomes	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:112130610C>A	ENST00000455480.2	+	2	274	c.97C>A	c.(97-99)Cga>Aga	p.R33R	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Silent_p.R33R|ACAD10_ENST00000313698.4_Silent_p.R33R	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	33							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGGGTCCCACCGATGGACACA	0.587000													33	112					2.47316e-13	2.96779e-13	1	1	0
FGA	2243	broad.mit.edu	37	4	155507843	155507843	+	Silent	SNP	T	T	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:155507843T>A	ENST00000302053.3	-	5	816	c.738A>T	c.(736-738)ccA>ccT	p.P246P	FGA_ENST00000403106.3_Silent_p.P246P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	246					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTCCACTCTGGGGGTACCT	0.473000													13	74					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057047	9057047	+	Silent	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr19:9057047C>A	ENST00000397910.4	-	3	30602	c.30399G>T	c.(30397-30399)gtG>gtT	p.V10133V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10135	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						AGGGAGTACCCACTGGGTATG	0.468000													11	25					0.000673444	0.000703598	1	1	0
GRAMD1B	57476	broad.mit.edu	37	11	123474230	123474230	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:123474230G>T	ENST00000529750.1	+	8	1045	c.718G>T	c.(718-720)Gac>Tac	p.D240Y	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.D240Y|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.D247Y	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	240						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCCCCCTGACGACGACTTCAA	0.602000													11	26					1.08611e-07	1.23288e-07	1	1	0
HSD17B2	3294	broad.mit.edu	37	16	82131955	82131955	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:82131955G>A	ENST00000199936.4	+	5	1271	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	360					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TGGCATATATGATTACTTTGC	0.468000													36	90					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54914562	54914562	+	Silent	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr12:54914562G>T	ENST00000293373.6	+	17	1789	c.1710G>T	c.(1708-1710)ctG>ctT	p.L570L	NCKAP1L_ENST00000545638.2_Silent_p.L520L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	570					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTTTCCCCCTGATTTGTGCTC	0.473000													39	194					9.62906e-15	1.16213e-14	1	1	0
CPA4	51200	broad.mit.edu	37	7	129950640	129950640	+	Silent	SNP	C	C	T	rs144517019	byFrequency	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr7:129950640C>T	ENST00000222482.4	+	9	835	c.807C>T	c.(805-807)agC>agT	p.S269S	CPA4_ENST00000493259.1_Silent_p.S165S|CPA4_ENST00000445470.2_Silent_p.S236S	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	269					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AGGGAGCCAGCGACAACCCTT	0.498000													7	78					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134711240	134711240	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chrX:134711240G>A	ENST00000370752.4	+	14	2230	c.1896G>A	c.(1894-1896)agG>agA	p.R632R	DDX26B_ENST00000493637.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	632										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGTTGAGGAAACCACAAA	0.502000													4	136					0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130737356	130737356	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:130737356T>A	ENST00000264992.3	-	4	1948	c.1507A>T	c.(1507-1509)Agc>Tgc	p.S503C	ASTE1_ENST00000514044.1_Missense_Mutation_p.S503C	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	503					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CTACCAGGGCTGTTGATTATG	0.418000													16	109					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916648	86916648	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:86916648G>T	ENST00000395184.1	+	9	2307	c.1841G>T	c.(1840-1842)aGg>aTg	p.R614M	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R519M|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.R521M	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	614					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AGTGACCACAGGAGTGTGGGA	0.537000													4	107					1.23904e-05	1.3552e-05	1	1	0
ZNF174	7727	broad.mit.edu	37	16	3452344	3452344	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr16:3452344A>T	ENST00000268655.4	+	1	925	c.340A>T	c.(340-342)Agc>Tgc	p.S114C	ZNF174_ENST00000575752.1_Missense_Mutation_p.S114C|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000344823.5_Missense_Mutation_p.S114C|ZNF174_ENST00000571936.1_Missense_Mutation_p.S114C|ZNF174_ENST00000572544.1_Missense_Mutation_p.S114C	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	114	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						TCCAATGAGCAGCAAGGAGAT	0.537000													20	73					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127692978	127692978	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:127692978C>G	ENST00000508053.1	-	26	3638	c.2664G>C	c.(2662-2664)ttG>ttC	p.L888F	FBN2_ENST00000262464.4_Missense_Mutation_p.L888F|FBN2_ENST00000508989.1_Missense_Mutation_p.L855F			P35556	FBN2_HUMAN	fibrillin 2	888	EGF-like 13; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAATACAGATCAATCCTGTGG	0.423000													5	20					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68500167	68500167	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:68500167T>C	ENST00000322244.4	-	21	1971	c.1912A>G	c.(1912-1914)Ata>Gta	p.I638V		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	638					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GCCCACTGTATGGTATGTTCA	0.323000													7	34					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76633398	76633398	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:76633398C>T	ENST00000369950.3	-	16	2458	c.2269G>A	c.(2269-2271)Gca>Aca	p.A757T	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	757					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTTTTGTATGCTTGATTTTCA	0.303000													3	9					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308636	140308636	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr5:140308636G>A	ENST00000253807.2	+	1	2159	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R720H|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCTGTCGCTCTACAGAG	0.468000													20	72					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142151312	142151312	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:142151312G>T	ENST00000519811.1	+	4	582	c.512G>T	c.(511-513)tGt>tTt	p.C171F	DENND3_ENST00000518347.1_Missense_Mutation_p.C171F|DENND3_ENST00000424248.1_Missense_Mutation_p.C91F|DENND3_ENST00000262585.2_Missense_Mutation_p.C91F			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	91	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GATGAGTACTGTTTCTACAAT	0.527000													9	130					0.00621372	0.00642798	1	1	0
DMD	1756	broad.mit.edu	37	X	31697647	31697647	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chrX:31697647G>T	ENST00000357033.4	-	53	7923	c.7717C>A	c.(7717-7719)Caa>Aaa	p.Q2573K	DMD_ENST00000541735.1_Missense_Mutation_p.Q113K|DMD_ENST00000359836.1_Missense_Mutation_p.Q113K|DMD_ENST00000343523.2_Missense_Mutation_p.Q113K|DMD_ENST00000474231.1_Missense_Mutation_p.Q113K|DMD_ENST00000378677.2_Missense_Mutation_p.Q2569K|DMD_ENST00000378707.3_Missense_Mutation_p.Q113K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2573					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCAACTGTTGCCTCCGGTTC	0.398000													4	11					0.000602214	0.000632325	1	1	0
HEATR1	55127	broad.mit.edu	37	1	236746421	236746421	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:236746421C>G	ENST00000366582.3	-	18	2431	c.2317G>C	c.(2317-2319)Gaa>Caa	p.E773Q	HEATR1_ENST00000366581.2_Missense_Mutation_p.E773Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	773					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)			TTGAGCTCTTCTACATAATGT	0.418000													16	170					0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33690670	33690670	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:33690670C>T	ENST00000451316.1	-	7	1595	c.1060G>A	c.(1060-1062)Ggt>Agt	p.G354S	IP6K3_ENST00000293756.4_Missense_Mutation_p.G354S	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	354					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GGAGAGCTACCGTGGGCTGCC	0.562000													54	60					0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018192	1018192	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:1018192G>A	ENST00000398484.2	+	7	1392	c.812G>A	c.(811-813)cGc>cAc	p.R271H	FGFRL1_ENST00000510644.1_Missense_Mutation_p.R271H|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R271H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R271H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	271	Ig-like C2-type 3.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCAAGGTGCGCAGCGACGTG	0.662000													4	113					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142151311	142151311	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:142151311T>C	ENST00000519811.1	+	4	581	c.511T>C	c.(511-513)Tgt>Cgt	p.C171R	DENND3_ENST00000518347.1_Missense_Mutation_p.C171R|DENND3_ENST00000424248.1_Missense_Mutation_p.C91R|DENND3_ENST00000262585.2_Missense_Mutation_p.C91R			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	91	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATGAGTACTGTTTCTACAA	0.522000													9	129					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70275855	70275855	+	Silent	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr13:70275855C>T	ENST00000377844.4	-	11	2985	c.2226G>A	c.(2224-2226)gtG>gtA	p.V742V	KLHL1_ENST00000545028.1_Silent_p.V549V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	742					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)		TGATGACTACCACACAGGCAC	0.328000													4	13					0	0	1	0	0
DNALI1	7802	broad.mit.edu	37	1	38023218	38023218	+	Silent	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:38023218A>G	ENST00000296218.7	+	2	172	c.162A>G	c.(160-162)aaA>aaG	p.K54K	DNALI1_ENST00000541606.1_5'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	32				S -> P (in Ref. 3; CAI46082).	cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTACTGAAAGTCAGCCCCC	0.572000													22	215					0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44520385	44520385	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr20:44520385A>G	ENST00000372484.3	+	2	514	c.232A>G	c.(232-234)Aag>Gag	p.K78E	CTSA_ENST00000372459.2_Missense_Mutation_p.K60E|CTSA_ENST00000354880.5_Missense_Mutation_p.K78E|CTSA_ENST00000191018.5_Missense_Mutation_p.K60E	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	60					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTCCGGCTCCAAGCACCTCCA	0.652000													19	186					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90450869	90450869	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:90450869G>A	ENST00000335725.4	+	9	1144	c.894G>A	c.(892-894)ttG>ttA	p.L298L	TDP1_ENST00000393452.3_Silent_p.L298L|TDP1_ENST00000357382.3_Silent_p.L59L|TDP1_ENST00000555880.1_Silent_p.L298L|TDP1_ENST00000393454.2_Silent_p.L298L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	298					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GAATATGGTTGAGCCCCTTAT	0.388000								Repair of DNA-protein crosslinks					16	139					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111893128	111893128	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:111893128C>T	ENST00000277900.8	+	14	2142	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	ADD3_ENST00000356080.4_Missense_Mutation_p.P625S|ADD3_ENST00000360162.3_Missense_Mutation_p.P593S	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	625						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CATGGAAGTGCCTGTCATGGT	0.403000													12	133					0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40529725	40529725	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:40529725C>T	ENST00000447116.2	+	6	2151	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	ZNF619_ENST00000314686.5_Missense_Mutation_p.S559F|ZNF619_ENST00000521353.1_Missense_Mutation_p.S615F|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Missense_Mutation_p.S575F|ZNF619_ENST00000456778.1_Missense_Mutation_p.S531F|ZNF619_ENST00000522736.1_Missense_Mutation_p.S566F|ZNF619_ENST00000429348.2_Missense_Mutation_p.S575F	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	615					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTGTCTCACTCCCTGTAAGCC	0.468000													19	51					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81610369	81610369	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr14:81610369T>C	ENST00000541158.2	+	11	2289	c.1967T>C	c.(1966-1968)gTt>gCt	p.V656A	TSHR_ENST00000298171.2_Missense_Mutation_p.V656A|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	656			V -> F (in TTNs).		cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTCATCACTGTTAGCAACTCC	0.463000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						50	134					0	0	1	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	40					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46657035	46657035	+	Silent	SNP	G	G	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:46657035G>A	ENST00000544460.1	+	1	1424	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	TDRD6_ENST00000316081.6_Silent_p.R390R	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	390					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTGGTCTCGGTCACAGGTCG	0.498000													40	78					0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455669	72455669	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr15:72455669C>A	ENST00000309731.7	-	10	907	c.894G>T	c.(892-894)gaG>gaT	p.E298D	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	298						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TGCTCCTGGGCTCCTCCTCCA	0.592000													6	71					2.0095e-06	2.24465e-06	1	1	0
LOC101928650	101928650	broad.mit.edu	37	1	170501106	170501107	+	RNA	DEL	GA	GA	-			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr1:170501106_170501107delGA	ENST00000421020.1	-	0	34_35				RP11-576I22.2_ENST00000456083.1_RNA																							GAGAAACAATGAGAGAGAGAGA	0.505													2	4	---	---	---	---					
DNAJB2	3300	broad.mit.edu	37	2	220146750	220146750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:220146750delT	ENST00000336576.5	+	5	607	c.319delT	c.(319-321)ttfs	p.F107fs	DNAJB2_ENST00000392086.4_Frame_Shift_Del_p.F107fs|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	107					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGGAATTCTTTGGGAGTGG	0.592													15	64	---	---	---	---					
MTERFD2	130916	broad.mit.edu	37	2	242035790	242035790	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr2:242035790delA	ENST00000391980.2	-	4	827	c.769delT	c.(769-771)cafs	p.S257fs	MTERFD2_ENST00000406593.1_Frame_Shift_Del_p.S69fs|MTERFD2_ENST00000495694.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	257										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TTGGTTAGTGAATACTGCAAG	0.458													19	103	---	---	---	---					
NKIRAS1	28512	broad.mit.edu	37	3	23934814	23934815	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:23934814_23934815insA	ENST00000443659.2	-	4	1127_1128	c.350_351insT	c.(349-351)gttfs	p.V117fs	NKIRAS1_ENST00000416026.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000425478.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000415901.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000388759.3_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000421515.2_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000412028.1_Frame_Shift_Ins_p.V117fs|NKIRAS1_ENST00000437230.1_Frame_Shift_Ins_p.V117fs			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	117					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						TGTTTCCTAATACCACAATTGC	0.431													24	61	---	---	---	---					
HGD	3081	broad.mit.edu	37	3	120365841	120365841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr3:120365841delG	ENST00000283871.5	-	8	987	c.528delC	c.(526-528)ccfs	p.P176fs		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	176					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGATCTCATTGGGCTGTACAA	0.473													10	131	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187557272	187557273	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr4:187557272_187557273insA	ENST00000441802.2	-	6	4298_4299	c.4089_4090insT	c.(4087-4092)ttccttfs	p.L1364fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1364	Cadherin 12.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAGTAAAGGTAAAAAATGATT	0.460										HNSCC(5;0.00058)			10	35	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521065	32521065	+	RNA	DEL	C	C	-	rs147140742	by1000genomes	TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr6:32521065delC	ENST00000411500.1	-	0	875					NR_001298.1																						CAAAGTCTTTCCTATTATTTC	0.428													3	4	---	---	---	---					
SNTG1	54212	broad.mit.edu	37	8	51571223	51571224	+	Splice_Site	INS	-	-	GTAT			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr8:51571223_51571224insGTAT	ENST00000522124.1	+	15	1699	c.1038_splice	c.e15+1	p.K346_splice	SNTG1_ENST00000276467.5_Splice_Site_p.K346_splice|SNTG1_ENST00000518864.1_Splice_Site_p.K346_splice|SNTG1_ENST00000517473.1_Splice_Site_p.K346_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	346	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGATCCTCAAGGTATGATCAAT	0.371													7	60	---	---	---	---					
SLF2	55719	broad.mit.edu	37	10	102697158	102697159	+	Splice_Site	INS	-	-	AT			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr10:102697158_102697159insAT	ENST00000238961.3	+	10	2584_2585		c.e10-1		FAM178A_ENST00000370269.3_Splice_Site	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		GCTTTTGACAGATGATGTCAGT	0.322													9	75	---	---	---	---					
PICALM	8301	broad.mit.edu	37	11	85692227	85692227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A50I-01A-11D-A28R-08	TCGA-F7-A50I-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4de11b7-68fb-48b4-85eb-f136fa23f1a0	cad477ab-52f1-4ef5-aa19-90980f9b7e45	g.chr11:85692227delC	ENST00000526033.1	-	17	2019	c.1703delG	c.(1702-1704)gafs	p.G568fs	PICALM_ENST00000393346.3_Frame_Shift_Del_p.G575fs|PICALM_ENST00000356360.5_Frame_Shift_Del_p.G575fs|PICALM_ENST00000532317.1_Frame_Shift_Del_p.G525fs|PICALM_ENST00000528398.1_Frame_Shift_Del_p.G474fs	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	575					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CCAGTTAGATCCCCCAGTTAA	0.358			T	"""MLLT10, MLL"""	"""TALL, AML, """								9	44	---	---	---	---					
