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
SERINC2	347735	broad.mit.edu	37	1	31905860	31905860	+	Missense_Mutation	SNP	G	G	A	rs139208281	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:31905860G>A	uc021okm.1	+	9	1360	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	SERINC2_uc010ogg.2_Missense_Mutation_p.E358K|SERINC2_uc001bst.3_Missense_Mutation_p.E354K|SERINC2_uc001bsu.3_Missense_Mutation_p.E299K|SERINC2_uc010ogh.2_Missense_Mutation_p.E358K	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	354						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GATGCAGACCGAGGAGTGCCC	0.617												
ZC3H12A	80149	broad.mit.edu	37	1	37948876	37948876	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:37948876C>T	uc001cbb.4	+	5	1614	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G	ZC3H12A_uc001cbc.1_Silent_p.G283G	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	488	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTTTGGCCGGGCCATGG	0.662												
MFSD2A	84879	broad.mit.edu	37	1	40432533	40432533	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:40432533C>T	uc001cev.3	+	7	1076	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	MFSD2A_uc010ojb.1_Missense_Mutation_p.R247W|MFSD2A_uc001ceu.3_Missense_Mutation_p.R286W|MFSD2A_uc010ojc.2_Missense_Mutation_p.R130W|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	299					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCGGGGCCTACGGCTGGTCAT	0.572												
FAM151A	338094	broad.mit.edu	37	1	55078368	55078368	+	Silent	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:55078368G>T	uc001cxn.3	-	4	723	c.591C>A	c.(589-591)gtC>gtA	p.V197V	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	197						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ACTTCTCCTGGACCAGGGCCA	0.562												
TM2D1	83941	broad.mit.edu	37	1	62190705	62190705	+	Missense_Mutation	SNP	T	T	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:62190705T>A	uc001czz.1	-	0	391	c.88A>T	c.(88-90)Aca>Tca	p.T30S		NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN	Homo sapiens TM2 domain containing 1 (TM2D1), mRNA.	30					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CAGGGTCCTGTAGTGACTGAG	0.647												
HRNR	388697	broad.mit.edu	37	1	152193139	152193139	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:152193139G>A	uc001ezt.1	-	2	1042	c.966C>T	c.(964-966)caC>caT	p.H322H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	322					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTGGCCGTGGCTGGAGG	0.607												
GON4L	55249	broad.mit.edu	37	1	155629971	155629971	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:155629971A>T	uc010pgi.2	-	9	2336	c.2144T>A	c.(2143-2145)gTc>gAc	p.V715D	GON4L_uc021paz.1_Missense_Mutation_p.V557D|GON4L_uc010pgg.2_Missense_Mutation_p.V462D|GON4L_uc010pgh.2_Missense_Mutation_p.V566D|GON4L_uc009wqt.3_Missense_Mutation_p.V546D|GON4L_uc001flh.3_Missense_Mutation_p.V695D|GON4L_uc001fll.3_Missense_Mutation_p.V577D|GON4L_uc001flk.3_Missense_Mutation_p.V566D|GON4L_uc001flm.3_Missense_Mutation_p.V566D|GON4L_uc009wqu.3_Missense_Mutation_p.V410D|GON4L_uc009wqv.3_Missense_Mutation_p.V294D|GON4L_uc009wqw.3_Missense_Mutation_p.V546D|GON4L_uc001flj.3_Missense_Mutation_p.V557D|GON4L_uc001fli.3_Missense_Mutation_p.V577D|GON4L_uc001flo.3_Missense_Mutation_p.V511D|GON4L_uc001fln.3_Missense_Mutation_p.V623D|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.V577D	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	1167					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCCGCATTGACAGGCTGGAT	0.557												
OLFML2B	25903	broad.mit.edu	37	1	161987297	161987297	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:161987297G>A	uc010pkq.2	-	3	863	c.439_splice	c.e3-1	p.L147_splice	OLFML2B_uc001gbu.3_Splice_Site_p.L147_splice	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	147										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)			ATTGTGGAGAGCTATGAAACA	0.522												
LGR6	59352	broad.mit.edu	37	1	202249926	202249926	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:202249926G>A	uc001gxu.3	+	5	662	c.662G>A	c.(661-663)cGc>cAc	p.R221H	LGR6_uc001gxv.3_Missense_Mutation_p.R169H|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Intron|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	221						integral to membrane|plasma membrane	protein-hormone receptor activity	p.R221H(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CATAACAACCGCATCCAGCAT	0.567												
LAMB3	3914	broad.mit.edu	37	1	209797264	209797264	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:209797264G>A	uc001hhg.3	-	13	2448	c.2058C>T	c.(2056-2058)gaC>gaT	p.D686D	LAMB3_uc009xco.3_Silent_p.D686D|LAMB3_uc001hhh.3_Silent_p.D686D|LAMB3_uc010psl.1_Non-coding_Transcript|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	686	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGAAGCTTCTGTCAAGACTCT	0.547												
VDAC2	7417	broad.mit.edu	37	10	76970926	76970926	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:76970926C>T	uc001jxa.3	+	1					VDAC2_uc021ptp.1_Missense_Mutation_p.H4Y|VDAC2_uc010qld.2_5'UTR|VDAC2_uc001jwz.3_Missense_Mutation_p.H4Y|VDAC2_uc010qle.2_5'UTR	NM_001184783	NP_001171712	P45880	VDAC2_HUMAN	Homo sapiens voltage-dependent anion channel 2 (VDAC2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	CATGGCGACCCACGGACAGAC	0.627												
PTEN	5728	broad.mit.edu	37	10	89690846	89690846	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:89690846G>T	uc001kfb.3	+	4	1285	c.253_splice	c.e4+1	p.V85_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	85	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.C71fs*6(2)|p.L70fs*7(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAATTGCAGAGGTAGGTATGA	0.318		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
SEC23IP	11196	broad.mit.edu	37	10	121668628	121668628	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:121668628A>G	uc001leu.2	+	4	1387	c.1177A>G	c.(1177-1179)Atg>Gtg	p.M393V	SEC23IP_uc010qtc.2_Missense_Mutation_p.M182V	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	393					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GACAATTGTTATGCACAATCC	0.303												
TH	7054	broad.mit.edu	37	11	2186970	2186970	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:2186970G>A	uc001lvq.3	-	11	1240	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TH_uc001lvp.3_Silent_p.F403F|TH_uc001lvr.3_Silent_p.F376F|TH_uc010qxj.2_Silent_p.F380F|TH_uc001lvs.3_Silent_p.F282F|TH_uc001lvt.3_Silent_p.F286F|TH_uc009ydh.1_Non-coding_Transcript	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	407					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TACACAGCCCGAACTCCACCG	0.667												
OR51A4	401666	broad.mit.edu	37	11	4967921	4967921	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:4967921A>G	uc010qys.2	-	0	410	c.410T>C	c.(409-411)aTc>aCc	p.I137T		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTTGTCAGGATTGAGGTGTA	0.428												
NAV2	89797	broad.mit.edu	37	11	19961278	19961278	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:19961278A>G	uc010rdm.2	+	8	2535	c.2174A>G	c.(2173-2175)cAc>cGc	p.H725R	NAV2_uc001mpp.3_Missense_Mutation_p.H638R|NAV2_uc001mpr.4_Missense_Mutation_p.H702R|NAV2_uc021qew.1_Missense_Mutation_p.H702R	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	725						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGCCCAGCCACTTCACCAAG	0.532												
TRIM51	84767	broad.mit.edu	37	11	55655591	55655591	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:55655591C>A	uc010rip.2	+	3	683	c.591C>A	c.(589-591)caC>caA	p.H197Q	TRIM51_uc010riq.2_Missense_Mutation_p.H54Q	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	197						intracellular	zinc ion binding	p.H38Q(1)|p.H197Q(1)									AGCAACATCACTTGGAAAGGC	0.423												
BIN2	51411	broad.mit.edu	37	12	51696870	51696870	+	Splice_Site	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:51696870C>T	uc001ryg.3	-	3	269	c.217_splice	c.e3+1	p.V73_splice	BIN2_uc009zlz.3_Splice_Site_p.V73_splice|BIN2_uc001ryh.3_Splice_Site|BIN2_uc010sng.2_Splice_Site_p.V47_splice	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	73	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GCATTGCCCACCTTTGACTGC	0.433												
OR6C75	390323	broad.mit.edu	37	12	55759400	55759400	+	Missense_Mutation	SNP	C	C	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:55759400C>G	uc010spk.2	+	0	506	c.506C>G	c.(505-507)tCc>tGc	p.S169C		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TTCTGTGCCTCCAATGTAATT	0.433												
FGD6	55785	broad.mit.edu	37	12	95604181	95604181	+	Silent	SNP	T	T	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:95604181T>C	uc001tdp.4	-	1	1103	c.879A>G	c.(877-879)tcA>tcG	p.S293S	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	293					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTTTGACTTCTGATTTCTTAC	0.388												
TBX5	6910	broad.mit.edu	37	12	114804065	114804065	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:114804065C>A	uc001tvo.3	-	7	1382	c.887G>T	c.(886-888)gGt>gTt	p.G296V	TBX5_uc001tvp.3_Missense_Mutation_p.G296V|TBX5_uc001tvq.3_Missense_Mutation_p.G246V|TBX5_uc010syv.2_Missense_Mutation_p.G296V	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	296					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCGGAAACACCATTCTCACA	0.552												
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:133220099_133220100delCA	uc001uks.1	-	33	4381_4382	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1446fs	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Frame_Shift_Del_p.V250fs|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Frame_Shift_Del_p.V1419fs	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1446					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)				
FAM124A	220108	broad.mit.edu	37	13	51825705	51825705	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr13:51825705G>A	uc001vff.2	+	3	478	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	FAM124A_uc001vfe.3_Missense_Mutation_p.V68I|FAM124A_uc001vfg.2_Missense_Mutation_p.V68I	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	68										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CATCGACAACGTCCTGGCGTG	0.682												
FOXG1	2290	broad.mit.edu	37	14	29236624	29236626	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr14:29236624_29236626delCAC	uc001wqe.3	+	0	338_340	c.139_141delCAC	c.(139-141)cacdel	p.H57del		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	57	His-rich.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ccacccccagcaccaccaccacc	0.744												
FOXA1	3169	broad.mit.edu	37	14	38061904	38061904	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr14:38061904C>T	uc001wuf.3	-	1	397	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	FOXA1_uc010tpz.2_5'UTR	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	29					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	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 transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTGACCGGGACGGAGGAGTAG	0.632												
UNC13C	440279	broad.mit.edu	37	15	54556392	54556392	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:54556392G>A	uc021smr.1	+	6	3469	c.3469G>A	c.(3469-3471)Ggt>Agt	p.G1157S	UNC13C_uc021sms.1_Missense_Mutation_p.G1159S|UNC13C_uc002acl.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1159					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCTAAACATGGTGCCGAAGA	0.398												
FAM108C1	58489	broad.mit.edu	37	15	81041941	81041941	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:81041941C>T	uc002bfu.3	+	1	797	c.678C>T	c.(676-678)tgC>tgT	p.C226C	FAM108C1_uc002bft.3_Intron	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN	Homo sapiens family with sequence similarity 108, member C1 (FAM108C1), mRNA.	226							hydrolase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGTATGAATGCGCAGCGGTAA	0.507												
SLC28A1	9154	broad.mit.edu	37	15	85448820	85448820	+	Silent	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:85448820A>T	uc002blg.3	+	7	856	c.654A>T	c.(652-654)ggA>ggT	p.G218G	SLC28A1_uc010upd.1_Silent_p.G140G|SLC28A1_uc010bnb.3_Silent_p.G218G|SLC28A1_uc010upe.2_Silent_p.G218G|SLC28A1_uc010upf.1_Silent_p.G218G|SLC28A1_uc010upg.1_Silent_p.G218G	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	218					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTGTACTTGGACTCCTCGTCA	0.567												
IL4R	3566	broad.mit.edu	37	16	27357926	27357926	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:27357926A>T	uc002don.3	+	5	742	c.500A>T	c.(499-501)aAc>aTc	p.N167I	IL4R_uc002dom.3_Missense_Mutation_p.N167I|IL4R_uc002dop.4_Missense_Mutation_p.N152I|IL4R_uc010bxy.3_Missense_Mutation_p.N167I|IL4R_uc002doo.3_Missense_Mutation_p.T9S	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	167	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGGAGTGAAAACGACCCGGCA	0.542												
ZNF319	57567	broad.mit.edu	37	16	58030933	58030933	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:58030933C>T	uc002emx.1	-	1	1860	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	ZNF319_uc021tjd.1_Missense_Mutation_p.E413K	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGCAGCAGCTCGGCAGATTGG	0.647												
HYDIN	54768	broad.mit.edu	37	16	70917863	70917863	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:70917863G>A	uc002ezr.3	-	58	10087	c.9936C>T	c.(9934-9936)gcC>gcT	p.A3312A		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3313								p.A3312A(1)|p.A3264A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAAGAATGCCGGCAGGGTGGA	0.522												
MYBBP1A	10514	broad.mit.edu	37	17	4449142	4449142	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:4449142G>C	uc002fxz.4	-	14	1983	c.1921_splice	c.e14+1	p.D641_splice	MYBBP1A_uc002fyb.4_Splice_Site_p.D641_splice|MYBBP1A_uc010vsa.2_5'Flank	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	641					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGGACCCACCGATGGTCTTGG	0.652												
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:7578395G>A	uc002gim.2	-	4	729	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.3_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.2_Missense_Mutation_p.H140Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179Y(188)|p.H179R(106)|p.H179L(35)|p.H179N(30)|p.H179D(24)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H47Y(6)|p.H178fs*3(6)|p.H178P(6)|p.H86Y(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H179P(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179del(2)|p.H179H(2)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.R174fs*1(2)|p.H178_H179>QY(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.H178L(1)|p.E171fs*1(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H179fs*?(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642		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)		
MYOCD	93649	broad.mit.edu	37	17	12656063	12656063	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:12656063G>A	uc002gno.2	+	9	1757	c.1458G>A	c.(1456-1458)ccG>ccA	p.P486P	MYOCD_uc002gnn.2_Silent_p.P486P|MYOCD_uc002gnp.1_Silent_p.P390P|MYOCD_uc002gnq.2_Silent_p.P205P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	486	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCCTGCACCCGTCCCCAGTCC	0.632												
LRRC30	339291	broad.mit.edu	37	18	7231554	7231554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:7231554C>T	uc010wzk.2	+	0	418	c.418C>T	c.(418-420)Cga>Tga	p.R140*		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	140										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAGCTTGTGCCGAAAGCTGGA	0.572												
MIB1	57534	broad.mit.edu	37	18	19395686	19395686	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:19395686G>A	uc002ktq.3	+	10	1589	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	MIB1_uc002ktp.3_Missense_Mutation_p.R169Q	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	530					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AACAAGCGCCGACAGACACCA	0.438												
SERPINB11	89778	broad.mit.edu	37	18	61377523	61377523	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:61377523G>A	uc002ljk.4	+	1	267	c.96G>A	c.(94-96)tcG>tcA	p.S32S	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Silent_p.S32S	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	32					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCTTTTCTTCGCTGAGTCTGC	0.433												
SALL3	27164	broad.mit.edu	37	18	76753193	76753193	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:76753193C>T	uc002lmt.3	+	1	1202	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	SALL3_uc010dra.3_Missense_Mutation_p.P8L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AAGGGCAAGCCGCCCAATGTG	0.662												
HCN2	610	broad.mit.edu	37	19	605149	605149	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:605149G>A	uc002lpe.3	+	2	1198	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	382					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGGGACGGCTGCCTGCAG	0.617												
REEP6	92840	broad.mit.edu	37	19	1496383	1496383	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:1496383G>T	uc002ltc.3	+	3	552	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S		NM_138393	NP_612402	Q96HR9	REEP6_HUMAN	Homo sapiens receptor accessory protein 6 (REEP6), mRNA.	150			A -> D (in dbSNP:rs2271412).			integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		GCACCACGGGGCCGTAGACAG	0.657												
ADAT3	113179	broad.mit.edu	37	19	1912807	1912807	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:1912807G>T	uc002luh.3	+	1	985	c.713G>T	c.(712-714)cGc>cTc	p.R238L	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.3_Intron|SCAMP4_uc002luk.3_Intron|SCAMP4_uc010dss.3_Intron|ADAT3_uc021umn.1_Missense_Mutation_p.R238L	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 3 (ADAT3), mRNA.	238					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|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)		GGCCAGGGCCGCGGCACCTAC	0.741												
ILF3	3609	broad.mit.edu	37	19	10794068	10794068	+	Silent	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:10794068A>G	uc002mpn.3	+	14	2018	c.1701A>G	c.(1699-1701)caA>caG	p.Q567Q	ILF3_uc010xli.1_Silent_p.Q165Q|ILF3_uc002mpm.2_Silent_p.Q571Q|ILF3_uc002mpl.2_Silent_p.Q567Q|ILF3_uc002mpk.2_Silent_p.Q567Q|ILF3_uc002mpo.3_Silent_p.Q571Q|ILF3_uc002mpp.3_Silent_p.Q392Q|ILF3_uc002mpq.3_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	567	DRBM 2.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGAAGTTCCAAGGTGCTGGTT	0.572												
OR10H5	284433	broad.mit.edu	37	19	15905136	15905136	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:15905136C>T	uc010xos.2	+	0	278	c.278C>T	c.(277-279)gCc>gTc	p.A93V		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CGCTCCATCGCCTTCCTGGCC	0.607												
MYO9B	4650	broad.mit.edu	37	19	17312748	17312748	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:17312748G>A	uc010eak.3	+	26	4729	c.4577G>A	c.(4576-4578)cGt>cAt	p.R1526H	MYO9B_uc002nfi.3_Missense_Mutation_p.R1526H|MYO9B_uc002nfj.1_Missense_Mutation_p.R1526H|MYO9B_uc002nfl.1_Missense_Mutation_p.R75H	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1526	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AATGACCTCCGTTCCCAGAAG	0.572												
PIK3R2	5296	broad.mit.edu	37	19	18280016	18280016	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:18280016C>T	uc002nia.1	+	15	2611	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	700	SH2 2.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CAGCACGCCTCGCTGGTGCAG	0.721												
TSHZ3	57616	broad.mit.edu	37	19	31769684	31769685	+	Frame_Shift_Ins	INS	-	-	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:31769684_31769685insT	uc002nsy.4	-	1	1079_1080	c.1014_1015insA	c.(1012-1017)ggtggafs	p.G338fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	338					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGGGGGTTCCACCTGTGGAAT	0.564												
SLC7A10	56301	broad.mit.edu	37	19	33706697	33706697	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:33706697C>T	uc002num.2	-	1	481	c.334G>A	c.(334-336)Gag>Aag	p.E112K	SLC7A10_uc010xrq.2_Intron	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	112			E -> D (in a family with cystinuria).		blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CCGAAGATCTCTGTGACGTAG	0.657												
FAM71E1	112703	broad.mit.edu	37	19	50979619	50979619	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:50979619G>A	uc002psh.3	-	0	385	c.27C>T	c.(25-27)ctC>ctT	p.L9L	FAM71E1_uc002psg.3_Silent_p.L9L|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	9										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCGGCTCCTGGAGATCAGGCC	0.682												
ZNF551	284309	broad.mit.edu	37	19	58265771	58265771	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:58265771G>T	uc002qpx.3	+	2	1496	c.1273G>T	c.(1273-1275)Gtt>Ttt	p.V425F	ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Missense_Mutation_p.V425F	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACACCAGAGAGTTCACACTGG	0.428												
BCL11A	53335	broad.mit.edu	37	2	60688453	60688453	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:60688453C>T	uc002sae.1	-	3	1822	c.1594G>A	c.(1594-1596)Gcg>Acg	p.A532T	BCL11A_uc002sab.3_Missense_Mutation_p.A532T|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.A201T|BCL11A_uc010ypj.2_Missense_Mutation_p.A498T|BCL11A_uc002sad.1_Missense_Mutation_p.A380T|BCL11A_uc002saf.1_Missense_Mutation_p.A498T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	532					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCCACGACCGCGCCCCGCGAG	0.697			T	IGH@	B-CLL							
MYO7B	4648	broad.mit.edu	37	2	128370138	128370138	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:128370138C>T	uc002top.3	+	24	3333	c.3280C>T	c.(3280-3282)Cac>Tac	p.H1094Y		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1094	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGAAGGTGCACTTCATCGT	0.602												
SCN9A	6335	broad.mit.edu	37	2	167056246	167056246	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:167056246A>T	uc010fpl.3	-	26	5211	c.4870T>A	c.(4870-4872)Ttt>Att	p.F1624I	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1635						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F1624V(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATCAAAGCAAAGAGCAGCGTG	0.507												
HOXD4	3233	broad.mit.edu	37	2	177017342	177017342	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:177017342C>T	uc002uks.3	+	1	689	c.440C>T	c.(439-441)cCc>cTc	p.P147L		NM_014621	NP_055436	P09016	HXD4_HUMAN	Homo sapiens homeobox D4 (HOXD4), mRNA.	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCAGTGAACCCCAACTACACC	0.597												
COL3A1	1281	broad.mit.edu	37	2	189858803	189858803	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:189858803G>A	uc002uqj.1	+	16	1306	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	397	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTAAAGGCGAAATGGTAAG	0.373												
PRKAG3	53632	broad.mit.edu	37	2	219689035	219689035	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:219689035C>T	uc002vjb.1	-	11	1282	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L		NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	421					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTCTGCCTCAGGGCTTCTC	0.597												
SEL1L2	80343	broad.mit.edu	37	20	13830942	13830942	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr20:13830942C>A	uc010gcf.3	-	18	1924	c.1842G>T	c.(1840-1842)ttG>ttT	p.L614F	SEL1L2_uc002woq.4_Missense_Mutation_p.L475F|SEL1L2_uc010zrl.2_Missense_Mutation_p.L501F|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	614						integral to membrane	binding	p.R613K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCATGTCGTACAATCTTCTGG	0.453												
ZBP1	81030	broad.mit.edu	37	20	56190589	56190589	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr20:56190589G>A	uc002xyo.3	-	2	588	c.307C>T	c.(307-309)Cct>Tct	p.P103S	ZBP1_uc010gjm.3_Missense_Mutation_p.P103S|ZBP1_uc002xyp.3_Missense_Mutation_p.P28S|ZBP1_uc010zzn.2_Missense_Mutation_p.P103S	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	103						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTGAACTGAGGGCCAGGGGTC	0.592												
C1QTNF6	114904	broad.mit.edu	37	22	37578306	37578306	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:37578306G>A	uc003aqx.1	-	2	1022	c.759C>T	c.(757-759)cgC>cgT	p.R253R	C1QTNF6_uc003aqw.1_Silent_p.R234R|C1QTNF6_uc003aqy.1_Silent_p.R253R|C1QTNF6_uc003aqz.1_Non-coding_Transcript	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	234	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGGCGTTCTCGCGCTGGCGCT	0.652												
SH3BP1	23616	broad.mit.edu	37	22	38046222	38046222	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:38046222G>A	uc011anl.1	+	15	2216	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc003ath.1_Silent_p.A460A|SH3BP1_uc003ati.3_Silent_p.A460A|SH3BP1_uc003atj.1_Silent_p.A396A|SH3BP1_uc003atk.1_Silent_p.A374A|AK097791_uc003atl.1_Intron			Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	615					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	p.A460A(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TCGTCGAGGCGCTGATCCAGA	0.632												
SMC1B	27127	broad.mit.edu	37	22	45754668	45754668	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:45754668G>A	uc003bgc.3	-	18	2922	c.2870C>T	c.(2869-2871)aCt>aTt	p.T957I	SMC1B_uc003bgd.3_Missense_Mutation_p.T957I	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	957					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCTGCTTCAGTTCCCATCTG	0.343												
GRM7	2917	broad.mit.edu	37	3	6903256	6903256	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr3:6903256G>T	uc003bqm.2	+	0	455	c.181G>T	c.(181-183)Ggt>Tgt	p.G61C	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G61C|GRM7_uc003bql.2_Missense_Mutation_p.G61C	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	61					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCACGCCAAGGGTCCCAGCGG	0.672												
SDHAP2	727956	broad.mit.edu	37	3	195410687	195410687	+	Missense_Mutation	SNP	T	T	A	rs6583274	by1000genomes	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr3:195410687T>A	uc003fuw.3	+	12	1778	c.584T>A	c.(583-585)gTg>gAg	p.V195E	SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CCCTTTGAGGTGCACTGGAGG	0.567												
CD38	952	broad.mit.edu	37	4	15835885	15835885	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr4:15835885A>G	uc003gol.1	+	3	652	c.545A>G	c.(544-546)aAc>aGc	p.N182S	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	182					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GACTGCAGCAACAACCCTGTT	0.388												
GALNT7	51809	broad.mit.edu	37	4	174219326	174219326	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr4:174219326C>T	uc003isz.4	+	5	1109	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	GALNT7_uc011ckb.2_Intron	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	342					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		AAATTATACCCCAAGGGGGTG	0.473												
C9	735	broad.mit.edu	37	5	39316092	39316092	+	Missense_Mutation	SNP	C	C	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:39316092C>G	uc003jlv.4	-	5	744	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	219	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCAATTTGTTCTTCGTAATGT	0.303												
HEATR7B2	133558	broad.mit.edu	37	5	41061824	41061824	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:41061824G>T	uc003jmj.4	-	5	953	c.463C>A	c.(463-465)Ctt>Att	p.L155I	HEATR7B2_uc021xxt.1_Missense_Mutation_p.L155I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	155							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AATTTCTCAAGGGCTGCATTT	0.398												
POLR3G	10622	broad.mit.edu	37	5	89802453	89802453	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:89802453G>A	uc003kjq.3	+	6	747	c.547G>A	c.(547-549)Gca>Aca	p.A183T	POLR3G_uc011cuc.2_Missense_Mutation_p.A183T	NM_006467	NP_006458	O15318	RPC7_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD) (POLR3G), mRNA.	183	Glu-rich.				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		cgatgatgccgcagaacagga	0.368												
C5orf46	389336	broad.mit.edu	37	5	147286057	147286057	+	Missense_Mutation	SNP	A	A	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:147286057A>C	uc010jgp.3	-	0	45	c.8T>G	c.(7-9)gTc>gGc	p.V3G	C5orf46_uc003lou.3_Missense_Mutation_p.V3G|C5orf46_uc003lov.4_Missense_Mutation_p.V3G	NM_206966	NP_996849	Q6UWT4	CE046_HUMAN	Homo sapiens chromosome 5 open reading frame 46 (C5orf46), mRNA.	3						extracellular region				NS(1)|lung(1)|prostate(1)	3						AAGTACTGAGACAGCCATTCT	0.453												
SH3TC2	79628	broad.mit.edu	37	5	148427540	148427540	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:148427540G>C	uc003lpu.3	-	2	316	c.164C>G	c.(163-165)tCc>tGc	p.S55C	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.S55C|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Missense_Mutation_p.S55C	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	55							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACACAGAAGGAGAGTGTCAG	0.498												
KIAA0319	9856	broad.mit.edu	37	6	24563628	24563628	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr6:24563628C>T	uc011djo.2	-	15	3050	c.2550G>A	c.(2548-2550)tcG>tcA	p.S850S	KIAA0319_uc011djp.2_Silent_p.S805S|KIAA0319_uc003neh.1_Silent_p.S850S|KIAA0319_uc011djq.1_Silent_p.S841S|KIAA0319_uc011djr.1_Silent_p.S850S|KIAA0319_uc010jpt.1_Silent_p.S261S	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	850					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCTTAATGTCCGAGTCCAGCA	0.587												
PHACTR2	9749	broad.mit.edu	37	6	144033221	144033221	+	Missense_Mutation	SNP	T	T	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr6:144033221T>C	uc010khi.3	+	1	314	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	PHACTR2_uc003qjq.4_Missense_Mutation_p.F28L|PHACTR2_uc010khh.3_Missense_Mutation_p.F28L|PHACTR2_uc003qjr.4_Missense_Mutation_p.F39L	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	28							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AACACCTCCCTTCAAAAGAAA	0.433												
SDK1	221935	broad.mit.edu	37	7	4213951	4213951	+	Missense_Mutation	SNP	C	C	T	rs140602039		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:4213951C>T	uc003smx.3	+	32	5037	c.4898C>T	c.(4897-4899)aCg>aTg	p.T1633M	SDK1_uc010kso.3_Missense_Mutation_p.T909M|SDK1_uc003smy.3_Missense_Mutation_p.T120M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1633	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAGGCCAAGACGCTCAAAAAC	0.562												
CPVL	54504	broad.mit.edu	37	7	29160576	29160576	+	Silent	SNP	T	T	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:29160576T>C	uc003szv.3	-	1	221	c.102A>G	c.(100-102)ccA>ccG	p.P34P	CPVL_uc003szw.3_Silent_p.P34P|CPVL_uc003szx.3_Silent_p.P34P	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	34					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTCCCTTAGGTGGCATGGAAA	0.468												
AEBP1	165	broad.mit.edu	37	7	44148536	44148536	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:44148536G>A	uc003tkb.3	+	6	1284	c.979G>A	c.(979-981)Gat>Aat	p.D327N	AEBP1_uc003tkc.4_5'Flank|AEBP1_uc022aci.1_5'Flank|AEBP1_uc003tkd.3_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	327					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAGAAGCCCGATGCTGAGCG	0.652												
ZNF680	340252	broad.mit.edu	37	7	64004099	64004099	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:64004099A>G	uc003tta.2	-	2	412	c.239T>C	c.(238-240)gTa>gCa	p.V80A	ZNF680_uc003ttb.2_Missense_Mutation_p.V80A	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA.	80	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GGGTTTGGCTACCATCTCCTG	0.428												
ZAN	7455	broad.mit.edu	37	7	100377161	100377161	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:100377161G>A	uc003uwj.3	+	35	6573	c.6408G>A	c.(6406-6408)gcG>gcA	p.A2136A	ZAN_uc003uwk.3_Silent_p.A2136A|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.A224A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2137	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCGCAGGGCGCGGGAAAAGT	0.637												
MUC17	140453	broad.mit.edu	37	7	100674926	100674926	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:100674926G>A	uc003uxp.1	+	2	282	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	77						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAAATGTCGTGGAGCCAAG	0.448												
RELN	5649	broad.mit.edu	37	7	103124180	103124180	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:103124180G>A	uc022ajr.1	-	61	10261	c.10101C>T	c.(10099-10101)aaC>aaT	p.N3367N	RELN_uc022ajq.1_Silent_p.N3367N|RELN_uc010liz.3_Silent_p.N3367N	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3367					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGTGATCCCGTTGTTGACGC	0.552												
PUS7	54517	broad.mit.edu	37	7	105111170	105111170	+	Missense_Mutation	SNP	A	A	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:105111170A>C	uc010lji.3	-	10	1389	c.1381T>G	c.(1381-1383)Tat>Gat	p.Y461D	PUS7_uc003vcx.3_Missense_Mutation_p.Y455D|PUS7_uc003vcy.3_Missense_Mutation_p.Y455D|PUS7_uc003vcz.1_Missense_Mutation_p.Y455D	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	455	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTCATTCCATATTTTGAAAGT	0.423												
GIMAP7	168537	broad.mit.edu	37	7	150217096	150217096	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:150217096G>A	uc003whk.3	+	1	164	c.34G>A	c.(34-36)Gtt>Att	p.V12I	GIMAP7_uc022apu.1_Missense_Mutation_p.V12I	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	12							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGAGGATCGTTCTGGTAGG	0.498												
INTS9	55756	broad.mit.edu	37	8	28627526	28627526	+	Silent	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:28627526G>T	uc003xha.3	-	15	1979	c.1680C>A	c.(1678-1680)gcC>gcA	p.A560A	INTS9_uc011lav.2_Silent_p.A536A|INTS9_uc011law.2_Silent_p.A539A|INTS9_uc011lax.2_Silent_p.A453A|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	560					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TCGTGGGCTGGGCGGGCCGAG	0.602											OREG0018682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PRKDC	5591	broad.mit.edu	37	8	48772255	48772255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:48772255G>A	uc003xqi.3	-	46	6178	c.6121C>T	c.(6121-6123)Caa>Taa	p.Q2041*	PRKDC_uc003xqj.3_Nonsense_Mutation_p.Q2041*	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2042					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.M2040I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAATCAAATTGACTCATTTCC	0.423								Non-homologous end-joining				
RP1	6101	broad.mit.edu	37	8	55540932	55540932	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:55540932A>T	uc003xsd.1	+	3	4638	c.4490A>T	c.(4489-4491)gAg>gTg	p.E1497V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1497					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1497E(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCCAAGAAGAGGTAGAGGCT	0.313												
TRPA1	8989	broad.mit.edu	37	8	72973980	72973980	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:72973980G>A	uc003xza.3	-	6	999	c.824C>T	c.(823-825)gCc>gTc	p.A275V		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	275						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)	AAAATGAATGGCTGTGCACCT	0.393												
MAPK15	225689	broad.mit.edu	37	8	144801307	144801307	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:144801307G>T	uc003yzj.3	+	5	603	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	188	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCACCGGAGGTGCTGCTCTC	0.687												
NCBP1	4686	broad.mit.edu	37	9	100433448	100433448	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr9:100433448C>T	uc004axq.3	+	22	2799	c.2340C>T	c.(2338-2340)gcC>gcT	p.A780A		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.	780					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	p.A780A(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				ATATCTTGGCCGTGTTCCAGC	0.423												
DMD	1756	broad.mit.edu	37	X	32429932	32429932	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:32429932G>C	uc004dda.1	-	29	4414	c.4170C>G	c.(4168-4170)gaC>gaG	p.D1390E	DMD_uc004dcw.2_Missense_Mutation_p.D46E|DMD_uc004dcx.2_Missense_Mutation_p.D49E|DMD_uc004dcz.2_Missense_Mutation_p.D1267E|DMD_uc004dcy.1_Missense_Mutation_p.D1386E|DMD_uc004ddb.1_Missense_Mutation_p.D1382E|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1390					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)				CCAACTGCTTGTCAATGAATG	0.473												
USP11	8237	broad.mit.edu	37	X	47104414	47104414	+	Splice_Site	SNP	G	G	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:47104414G>C	uc004dhp.3	+	16	2216	c.2216_splice	c.e16-1	p.A739_splice	USP11_uc004dhq.3_Splice_Site_p.A465_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	739					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCACCCCCAGCCCAGCCGTA	0.567												
PCDH11X	27328	broad.mit.edu	37	X	91133526	91133526	+	Missense_Mutation	SNP	T	T	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:91133526T>A	uc004efk.2	+	1	3132	c.2287T>A	c.(2287-2289)Ttc>Atc	p.F763I	PCDH11X_uc004efl.2_Missense_Mutation_p.F763I|PCDH11X_uc010nmv.2_Missense_Mutation_p.F763I|PCDH11X_uc004efm.2_Missense_Mutation_p.F763I|PCDH11X_uc004efn.2_Missense_Mutation_p.F763I|PCDH11X_uc004efo.2_Missense_Mutation_p.F763I|PCDH11X_uc004efh.2_Missense_Mutation_p.F763I|PCDH11X_uc004efj.1_Missense_Mutation_p.F763I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	763	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGATTCTCTCTTCAGTGTTGT	0.433												
GABRE	2564	broad.mit.edu	37	X	151124002	151124002	+	Silent	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:151124002G>T	uc004ffi.3	-	7	1029	c.975C>A	c.(973-975)acC>acA	p.T325T	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	325					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACGAGAAAAGGTGCCCAACG	0.493												
