Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
GATA3	2625	broad.mit.edu	37	10	8115874	8115874	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr10:8115874C>T	ENST00000379328.3	+	6	1791	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	GATA3_ENST00000346208.3_Missense_Mutation_p.S407L|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	407					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.P409fs*>37(5)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGC	0.602000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						17	76					0	0	0.539581	0	0
SST	6750	broad.mit.edu	37	3	187386909	187386909	+	Silent	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:187386909G>T	ENST00000287641.3	-	2	402	c.295C>A	c.(295-297)Cga>Aga	p.R99R		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	99					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	p.R99R(1)		kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	TTGCGTTCTCGGGGTGCCATA	0.498000													28	274					3.73988e-18	4.48786e-18	0.706142	1	0
VEGFC	7424	broad.mit.edu	37	4	177632795	177632795	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:177632795T>G	ENST00000280193.2	-	4	977	c.562A>C	c.(562-564)Att>Ctt	p.I188L	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	188					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGCACTGTAATTTCAAATAAC	0.368000													21	119					0	0	0.592651	0	0
RHAG	6005	broad.mit.edu	37	6	49604371	49604371	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:49604371G>C	ENST00000371175.4	-	1	181	c.155C>G	c.(154-156)cCt>cGt	p.P52R	RHAG_ENST00000229810.7_Missense_Mutation_p.P52R	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	52					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTACTCACGAGGATATAACTC	0.373000													30	153					0	0	0.750413	0	0
CCDC158	339965	broad.mit.edu	37	4	77274325	77274325	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:77274325T>C	ENST00000388914.3	-	15	2548	c.2396A>G	c.(2395-2397)gAa>gGa	p.E799G		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	799										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CAAACGGCGTTCCTGAGATCG	0.353000													14	58					0	0	0.457914	0	0
DOK4	55715	broad.mit.edu	37	16	57509512	57509512	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr16:57509512G>A	ENST00000566936.1	-	3	492	c.195C>T	c.(193-195)gtC>gtT	p.V65V	DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000569548.1_Silent_p.V65V|DOK4_ENST00000340099.4_Silent_p.V65V			Q8TEW6	DOK4_HUMAN	docking protein 4	65	PH.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						TAACACACTTGACGTTGCTGA	0.572000													4	18					0	0	0.150653	0	0
TJP3	27134	broad.mit.edu	37	19	3728677	3728677	+	Missense_Mutation	SNP	G	G	A	rs150589606		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:3728677G>A	ENST00000541714.2	+	3	586	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	TJP3_ENST00000589378.1_Missense_Mutation_p.V51M|TJP3_ENST00000262968.9_Missense_Mutation_p.V61M|TJP3_ENST00000382008.3_Missense_Mutation_p.V42M|TJP3_ENST00000539908.2_Missense_Mutation_p.V6M|TJP3_ENST00000587686.1_Missense_Mutation_p.V61M	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	42	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTATCTGACGTGGTACCTGG	0.652000													9	44					0	0	0.387290	0	0
PBRM1	55193	broad.mit.edu	37	3	52713603	52713603	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:52713603G>A	ENST00000356770.4	-	1	127	c.125C>T	c.(124-126)cCa>cTa	p.P42L	PBRM1_ENST00000296302.7_Missense_Mutation_p.P42L|PBRM1_ENST00000410007.1_Missense_Mutation_p.P42L|PBRM1_ENST00000409767.1_Missense_Mutation_p.P42L|PBRM1_ENST00000409114.3_Missense_Mutation_p.P42L|PBRM1_ENST00000409057.1_Missense_Mutation_p.P42L|PBRM1_ENST00000337303.4_Missense_Mutation_p.P42L|PBRM1_ENST00000394830.3_Missense_Mutation_p.P42L			Q86U86	PB1_HUMAN	polybromo 1	42					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATCTACAGTTGGAAGATTGGA	0.478000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								18	47					0	0	0.539581	0	0
ASB8	140461	broad.mit.edu	37	12	48547183	48547183	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:48547183G>A	ENST00000317697.3	-	2	266	c.97C>T	c.(97-99)Cca>Tca	p.P33S	ASB8_ENST00000535988.1_Missense_Mutation_p.P33S|ASB8_ENST00000540782.1_Missense_Mutation_p.P33S|ASB8_ENST00000539528.1_Missense_Mutation_p.P33S|ASB8_ENST00000535055.1_Missense_Mutation_p.P33S|ASB8_ENST00000536953.1_Missense_Mutation_p.P33S|ASB8_ENST00000536549.1_Missense_Mutation_p.P33S|ASB8_ENST00000537754.1_Intron|ASB8_ENST00000536071.1_Missense_Mutation_p.P33S	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	33					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						TTATCATGTGGGAAGGAACGG	0.468000													11	173					0	0	0.387290	0	0
ENPP3	5169	broad.mit.edu	37	6	131958572	131958572	+	Silent	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:131958572C>T	ENST00000414305.1	+	2	376	c.48C>T	c.(46-48)aaC>aaT	p.N16N	ENPP3_ENST00000543135.1_5'UTR|ENPP3_ENST00000358229.5_Silent_p.N16N|ENPP3_ENST00000357639.3_Silent_p.N16N|ENPP3_ENST00000427148.2_5'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	16					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTAAGAAGAACACTCTTAAGA	0.318000													4	42					0	0	0.184627	0	0
CSMD3	114788	broad.mit.edu	37	8	113697846	113697846	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr8:113697846G>T	ENST00000297405.5	-	15	2515	c.2271C>A	c.(2269-2271)agC>agA	p.S757R	CSMD3_ENST00000455883.2_Missense_Mutation_p.S653R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S757R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S717R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	757	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATGTATCCGGCTCCCTGGAT	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	154					5.3912e-06	5.88131e-06	0.539581	1	0
SEC22C	9117	broad.mit.edu	37	3	42602763	42602763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:42602763C>T	ENST00000273156.7	-	4	581	c.372G>A	c.(370-372)tgG>tgA	p.W124*	SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000417572.1_Nonsense_Mutation_p.W124*|SEC22C_ENST00000423701.2_Nonsense_Mutation_p.W124*|SEC22C_ENST00000264454.3_Nonsense_Mutation_p.W124*|SEC22C_ENST00000536332.1_Nonsense_Mutation_p.W54*	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	124					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AGTTAAAATGCCACTTCACTT	0.408000													4	84					0	0	0.150653	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381307	55381307	+	Splice_Site	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:55381307G>T	ENST00000398661.2	-	5	613	c.483_splice	c.e5+1	p.A161_splice	HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Splice_Site_p.A131_splice|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000428842.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	161							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CACACTTACAGCATGGTGAAA	0.343000													9	72					7.48243e-07	8.33095e-07	0.335167	1	0
ERBB4	2066	broad.mit.edu	37	2	212615417	212615417	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:212615417T>C	ENST00000342788.4	-	5	879	c.569A>G	c.(568-570)cAt>cGt	p.H190R	ERBB4_ENST00000402597.1_Missense_Mutation_p.H190R|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Missense_Mutation_p.H190R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	190	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACAGGACTTATGGCAACGTCC	0.463000										TSP Lung(8;0.080)			19	55					0	0	0.592651	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2424138	2424138	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:2424138C>T	ENST00000332578.3	+	14	2498	c.2498C>T	c.(2497-2499)gCg>gTg	p.A833V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	833	Peptidase S1 3.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GGCAGCGCAGCGGGCCGTGGG	0.761000													3	5					0	0	0.150653	0	0
PRG4	10216	broad.mit.edu	37	1	186276959	186276959	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:186276959A>G	ENST00000445192.2	+	7	2153	c.2108A>G	c.(2107-2109)gAg>gGg	p.E703G	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.E660G|PRG4_ENST00000367485.4_Missense_Mutation_p.E610G|PRG4_ENST00000367483.4_Missense_Mutation_p.E662G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	703	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAGGAGACTGCTCCA	0.592000													4	138					0	0	0.150653	0	0
MUC2	4583	broad.mit.edu	37	11	1097728	1097728	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:1097728C>G	ENST00000441003.2	+	36	6848	c.6821C>G	c.(6820-6822)cCc>cGc	p.P2274R	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4636						inner mucus layer|outer mucus layer	protein binding	p.P2274H(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGCATTCTGCCCAGCGGGGAG	0.627000													6	37					0	0	0.217242	0	0
ZNF319	57567	broad.mit.edu	37	16	58030711	58030711	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr16:58030711T>G	ENST00000299237.2	-	2	2081	c.1459A>C	c.(1459-1461)Aag>Cag	p.K487Q		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	487					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						TCTGGGCACTTGAGTGGCTTC	0.637000													7	17					0	0	0.248553	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190731	209190731	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:209190731T>G	ENST00000264380.4	+	20	3354	c.3196T>G	c.(3196-3198)Ttt>Gtt	p.F1066V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1066					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCGAGAACCCTTTCTTTTAAC	0.398000													4	120					0	0	0.248553	0	0
SRPK1	6732	broad.mit.edu	37	6	35856615	35856615	+	Silent	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:35856615T>C	ENST00000373825.2	-	4	564	c.279A>G	c.(277-279)acA>acG	p.T93T	SRPK1_ENST00000423325.2_Silent_p.T77T|SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000373822.1_5'UTR			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	93	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						ATAACCATACTGTTGAAAAGT	0.388000													3	126					0	0	0.150653	0	0
SETD2	29072	broad.mit.edu	37	3	47143034	47143034	+	Silent	SNP	G	G	A	rs139879059	by1000genomes	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:47143034G>A	ENST00000409792.3	-	8	4971	c.4929C>T	c.(4927-4929)aaC>aaT	p.N1643N		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1643	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCAGTTGTCCGTTCACAGTCC	0.403000			"""N, F, S, Mis"""		clear cell renal carcinoma								4	124					0	0	0.184627	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254142	39254142	+	Silent	SNP	A	A	G	rs151141551	by1000genomes	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr17:39254142A>G	ENST00000333822.4	-	1	251	c.195T>C	c.(193-195)tgT>tgC	p.C65C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	65	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCTGGGGCGACAGCAGGTGG	0.657000													9	28					0	0	0.387290	0	0
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647000													3	101					0	0	0.248553	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	189					0	0	0.150653	0	0
PRSS37	136242	broad.mit.edu	37	7	141536260	141536260	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:141536260C>T	ENST00000350549.3	-	5	1014	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	PRSS37_ENST00000438520.1_Missense_Mutation_p.V215I	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	215	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TAGATGCCGACGTCCCCTCCC	0.517000													7	92					0	0	0.278610	0	0
MROH7	374977	broad.mit.edu	37	1	55119457	55119457	+	Silent	SNP	T	T	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:55119457T>A	ENST00000414150.2	+	3	1136	c.858T>A	c.(856-858)tcT>tcA	p.S286S	MROH7_ENST00000421030.2_Silent_p.S286S|MROH7_ENST00000395690.2_Silent_p.S286S|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Silent_p.S286S|MROH7_ENST00000545244.1_Intron					maestro heat-like repeat family member 7																		ACTCCAGATCTGATTTGAGCG	0.502000													15	50					0	0	0.500413	0	0
GABRA2	2555	broad.mit.edu	37	4	46314597	46314597	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:46314597C>A	ENST00000510861.1	-	5	565	c.392G>T	c.(391-393)gGg>gTg	p.G131V	GABRA2_ENST00000540012.1_Missense_Mutation_p.G76V|GABRA2_ENST00000356504.1_Missense_Mutation_p.G131V|GABRA2_ENST00000381620.4_Missense_Mutation_p.G131V|GABRA2_ENST00000514090.1_Missense_Mutation_p.G131V|GABRA2_ENST00000507069.1_Missense_Mutation_p.G131V|GABRA2_ENST00000515082.1_Missense_Mutation_p.G131V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	131					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGATTTTTTCCCATTGTGAAA	0.343000													11	127					3.86212e-05	4.12979e-05	0.361761	1	0
IGSF10	285313	broad.mit.edu	37	3	151171562	151171562	+	Splice_Site	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:151171562C>T	ENST00000282466.3	-	3	324	c.324_splice	c.e3-1	p.V109_splice		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	109					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTTTTAAGACCTATGAATTA	0.308000													12	117					0	0	0.387290	0	0
BSN	8927	broad.mit.edu	37	3	49699740	49699740	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:49699740A>G	ENST00000296452.4	+	6	10576	c.10462A>G	c.(10462-10464)Atg>Gtg	p.M3488V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3488					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATCCCTAAGTATGGCCCACAG	0.667000													15	25					0	0	0.479597	0	0
C12orf50	160419	broad.mit.edu	37	12	88390202	88390202	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:88390202C>G	ENST00000298699.2	-	6	610	c.430G>C	c.(430-432)Gca>Cca	p.A144P	C12orf50_ENST00000550553.1_Missense_Mutation_p.A144P	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	144										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGTTTTTCTGCTGTAGGTGTC	0.338000													5	110					0	0	0.248553	0	0
CFTR	1080	broad.mit.edu	37	7	117254766	117254766	+	Splice_Site	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:117254766T>G	ENST00000003084.6	+	21	3599	c.3468_splice	c.e21+1	p.L1156_splice	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Splice_Site_p.L1095_splice	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1156					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTGGATAGCTTGGTAAGTCTT	0.358000									Cystic Fibrosis				29	96					0	0	0.740014	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202438995	202438995	+	Silent	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:202438995G>T	ENST00000439140.1	-	7	734	c.690C>A	c.(688-690)gtC>gtA	p.V230V	ALS2CR11_ENST00000450242.1_Silent_p.V230V|ALS2CR11_ENST00000439802.1_Silent_p.V230V|ALS2CR11_ENST00000286195.3_Silent_p.V230V	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	230										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCAGCCTGCAGACAAACTAAA	0.318000													11	59					1.08611e-07	1.24787e-07	0.387290	1	0
NXPH1	30010	broad.mit.edu	37	7	8790743	8790743	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:8790743T>C	ENST00000405863.1	+	3	1071	c.160T>C	c.(160-162)Tct>Cct	p.S54P	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	54	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CAAAGACTTGTCTATCAGCCG	0.438000													8	82					0	0	0.278610	0	0
NUP160	23279	broad.mit.edu	37	11	47819982	47819982	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:47819982C>T	ENST00000378460.2	-	24	2975	c.2929G>A	c.(2929-2931)Gaa>Aaa	p.E977K	NUP160_ENST00000530326.1_Missense_Mutation_p.E863K|NUP160_ENST00000528071.1_Missense_Mutation_p.E863K	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	977					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ATAACCAGTTCAGGCAAACCA	0.348000													22	147					0	0	0.608945	0	0
PTPN14	5784	broad.mit.edu	37	1	214557324	214557324	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:214557324C>A	ENST00000366956.5	-	13	2068	c.1874G>T	c.(1873-1875)aGc>aTc	p.S625I	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	625					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GAGGGGCTCGCTCACCTCCTG	0.637000													8	41					0.000157383	0.000166641	0.278610	1	0
SLC7A3	84889	broad.mit.edu	37	X	70147194	70147194	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chrX:70147194G>A	ENST00000374299.3	-	8	1368	c.1224C>T	c.(1222-1224)gaC>gaT	p.D408D	SLC7A3_ENST00000298085.4_Silent_p.D408D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	408					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTGACATGAGGTCCACAAGAT	0.423000													3	7					0	0	0.115264	0	0
MAP3K3	4215	broad.mit.edu	37	17	61767721	61767721	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr17:61767721A>C	ENST00000361357.3	+	13	1572	c.1254A>C	c.(1252-1254)gaA>gaC	p.E418D	MAP3K3_ENST00000577395.1_Missense_Mutation_p.E383D|MAP3K3_ENST00000361733.3_Missense_Mutation_p.E387D|MAP3K3_ENST00000579585.1_Missense_Mutation_p.E418D|MAP3K3_ENST00000584573.1_Missense_Mutation_p.E414D	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	387	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGGGACGTGAACTTGCTTCCA	0.542000													5	75					0	0	0.184627	0	0
SLC22A20	440044	broad.mit.edu	37	11	64991021	64991021	+	RNA	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:64991021G>A	ENST00000525437.1	+	0	1051							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CCGGCCATCCGCAAGGTCACA	0.532000													3	52					0	0	0.115264	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960507	143960507	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr8:143960507G>A	ENST00000292427.4	-	2	368	c.336C>T	c.(334-336)agC>agT	p.S112S	CYP11B1_ENST00000517471.1_Silent_p.S112S|CYP11B1_ENST00000377675.3_Silent_p.S157S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	112					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGGGCTCCAGGCTCATCCTGT	0.612000									Familial Hyperaldosteronism type I				25	46					0	0	0.717897	0	0
SH2D1B	117157	broad.mit.edu	37	1	162381707	162381707	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:162381707C>T	ENST00000367929.2	-	1	209	c.100G>A	c.(100-102)Gag>Aag	p.E34K	SH2D1B_ENST00000359567.3_Missense_Mutation_p.E34K|SH2D1B_ENST00000493550.1_5'UTR	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	34	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GGTATCGACTCGCTGTCTCTT	0.507000													7	64					0	0	0.248553	0	0
TACC3	10460	broad.mit.edu	37	4	1729915	1729915	+	Silent	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:1729915A>G	ENST00000313288.4	+	4	892	c.786A>G	c.(784-786)ggA>ggG	p.G262G		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	262						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CCTGCGGAGGAGCACCCCTGC	0.682000													5	16					0	0	0.184627	0	0
COL1A2	1278	broad.mit.edu	37	7	94051239	94051239	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:94051239G>A	ENST00000297268.6	+	39	2849	c.2378G>A	c.(2377-2379)gGa>gAa	p.G793E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	793			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGCTGCTGGACGGACTGGT	0.458000										HNSCC(75;0.22)			18	62					0	0	0.557998	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G	rs144345425	by1000genomes	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478000													3	78					0	0	0.150653	0	0
TBK1	29110	broad.mit.edu	37	12	64889519	64889519	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:64889519A>C	ENST00000331710.5	+	15	2023	c.1684A>C	c.(1684-1686)Att>Ctt	p.I562L		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	562					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CATGACAGAGATTTACTATCA	0.264000													9	32					0	0	0.307466	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537016	27537016	+	RNA	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr10:27537016G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TAGATTTACCGCTGAGAAATA	0.393000													16	86					1.3612e-06	1.5001e-06	0.479597	1	0
NAALADL1	10004	broad.mit.edu	37	11	64813784	64813784	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:64813784G>A	ENST00000358658.3	-	15	1759	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	NAALADL1_ENST00000340252.4_Missense_Mutation_p.R629W|NAALADL1_ENST00000355369.2_Missense_Mutation_p.P520L|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R537W|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.R543W	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	578	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCACTGAGCCGGAGAATCACA	0.612000													3	48					0	0	0.150653	0	0
SSPO	23145	broad.mit.edu	37	7	149497464	149497464	+	RNA	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:149497464C>T	ENST00000378016.2	+	0	7222							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAACAGGCGCAGGTGTGTGA	0.692000													10	25					0	0	0.387290	0	0
ATP9A	10079	broad.mit.edu	37	20	50329572	50329572	+	Silent	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:50329572C>T	ENST00000338821.5	-	4	633	c.369G>A	c.(367-369)gaG>gaA	p.E123E	ATP9A_ENST00000311637.5_Silent_p.E108E|ATP9A_ENST00000402822.1_Silent_p.E123E	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	123					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCGGATCTCCTCCACCGCCT	0.622000													9	30					0	0	0.361761	0	0
ZNF451	26036	broad.mit.edu	37	6	57013119	57013119	+	Silent	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:57013119C>T	ENST00000370706.4	+	10	2480	c.2236C>T	c.(2236-2238)Ctg>Ttg	p.L746L	RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Silent_p.L746L|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Silent_p.L746L|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	746					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CCAAATCATGCTGGATAAAGG	0.393000													3	46					0	0	0.115264	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561665	55561665	+	Missense_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:55561665T>G	ENST00000436346.1	-	15	3133	c.2292A>C	c.(2290-2292)gaA>gaC	p.E764D	CCDC88A_ENST00000336838.6_Missense_Mutation_p.E764D|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E764D|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E764D	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	764					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTCTTTGATTTTCTATATCTA	0.348000													17	107					0	0	0.520397	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588474	20588474	+	RNA	SNP	C	C	T	rs111409649	by1000genomes	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr15:20588474C>T	ENST00000428453.1	-	0	4276																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGTGCAGTGTCCCCAGGACAC	0.483000													8	25					0	0	0.278610	0	0
RXFP3	51289	broad.mit.edu	37	5	33937155	33937155	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr5:33937155T>C	ENST00000330120.3	+	1	665	c.310T>C	c.(310-312)Tac>Cac	p.Y104H		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	104						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCTGGTTCTCTACCTGATGAA	0.612000													10	73					0	0	0.361761	0	0
CLDN15	24146	broad.mit.edu	37	7	100875889	100875889	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:100875889C>T	ENST00000401528.1	-	5	1702	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	CLDN15_ENST00000308344.5_Missense_Mutation_p.A193T	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	193					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					GCTCACCTGGCGGCTGGGTCC	0.751000													4	6					0	0	0.150653	0	0
MRC1	4360	broad.mit.edu	37	10	17865198	17865198	+	Missense_Mutation	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr10:17865198G>A	ENST00000331429.2	+	2	290	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	MRC1L1_ENST00000457317.1_Missense_Mutation_p.E63K																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATGGGTGTCCGAATCTCAGAT	0.488000													23	73					0	0	0.769981	0	0
VHL	7428	broad.mit.edu	37	3	10183787	10183787	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:10183787C>A	ENST00000256474.2	+	1	1096	c.256C>A	c.(256-258)Ccc>Acc	p.P86T	VHL_ENST00000345392.2_Missense_Mutation_p.P86T	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	86			P -> A (in VHLD; type I).|P -> H (in VHLD).|P -> L (in VHLD; type I).|P -> R (in VHLD; type I).|P -> S (in VHLD).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.P86S(5)|p.P86fs*72(2)|p.S72_V87>L(1)|p.R60fs*35(1)|p.P86A(1)|p.V87fs*72(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.P86T(1)|p.L85fs*46(1)|p.L85fs*44(1)|p.V84fs*72(1)|p.V84_P86del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGTCGTGCTGCCCGTATGGCT	0.721000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				5	11					0.184627	0.189902	0.184627	1	0
CREB5	9586	broad.mit.edu	37	7	28848987	28848987	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:28848987G>C	ENST00000357727.2	+	9	1600	c.1210G>C	c.(1210-1212)Gaa>Caa	p.E404Q	CREB5_ENST00000396298.2_Missense_Mutation_p.E265Q|CREB5_ENST00000396299.2_Missense_Mutation_p.E371Q|CREB5_ENST00000396300.2_Missense_Mutation_p.E397Q|CREB5_ENST00000409603.1_Missense_Mutation_p.E371Q	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	404	Leucine-zipper.				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GATGTCATTGGAAAAGAAAGC	0.577000													12	49					0	0	0.411799	0	0
MTOR	2475	broad.mit.edu	37	1	11188164	11188164	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:11188164G>C	ENST00000361445.4	-	43	6006	c.5930C>G	c.(5929-5931)aCa>aGa	p.T1977R	MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1977	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.T1977R(2)|p.T1977K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGAAGCCACTGTCAGTGGGTA	0.478000													41	112					0	0	0.847076	0	0
FLT1	2321	broad.mit.edu	37	13	29002018	29002018	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr13:29002018A>G	ENST00000282397.4	-	9	1398	c.1147T>C	c.(1147-1149)Tat>Cat	p.Y383H	FLT1_ENST00000539099.1_Missense_Mutation_p.Y383H|FLT1_ENST00000541932.1_Missense_Mutation_p.Y383H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	383	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGAGTCAAATAGCGAGCAGAT	0.388000													18	105					0	0	0.592651	0	0
GPR116	221395	broad.mit.edu	37	6	46826442	46826442	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:46826442G>A	ENST00000283296.7	-	17	3486	c.3198C>T	c.(3196-3198)acC>acT	p.T1066T	GPR116_ENST00000265417.7_Silent_p.T1066T|GPR116_ENST00000545669.1_Silent_p.T495T|GPR116_ENST00000456426.2_Silent_p.T924T|GPR116_ENST00000362015.4_Silent_p.T1066T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1066					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CAATGAACCAGGTGTTGGCGA	0.532000													5	42					0	0	0.184627	0	0
PSMC2	5701	broad.mit.edu	37	7	103002469	103002469	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:103002469C>T	ENST00000435765.1	+	6	767	c.356C>T	c.(355-357)gCc>gTc	p.A119V	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.A119V|PSMC2_ENST00000544811.1_5'UTR	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	119					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AAGCAGTTTGCCAAGTTTGTG	0.378000													4	135					0	0	0.150653	0	0
PLIN1	5346	broad.mit.edu	37	15	90220708	90220708	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr15:90220708T>C	ENST00000300055.5	-	2	178	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	PLIN1_ENST00000430628.2_Missense_Mutation_p.K5E	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	5					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GTGAGGCCTTTGTTGACTGCC	0.567000													8	186					0	0	0.307466	0	0
NUP98	4928	broad.mit.edu	37	11	3704554	3704554	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:3704554C>A	ENST00000324932.7	-	30	5214	c.4794G>T	c.(4792-4794)tgG>tgT	p.W1598C	NUP98_ENST00000359171.4_Missense_Mutation_p.W1524C|NUP98_ENST00000355260.3_Missense_Mutation_p.W1524C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1615				S -> T (in Ref. 4; AAL56659).	carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCTCGTGGATCCATTTGGCAG	0.537000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								24	77					2.21704e-12	2.63121e-12	0.639603	1	0
PABPC5	140886	broad.mit.edu	37	X	90691444	90691444	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chrX:90691444C>G	ENST00000312600.3	+	2	1082	c.868C>G	c.(868-870)Cgg>Ggg	p.R290G	PABPC5_ENST00000373105.1_Missense_Mutation_p.R126G	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	290						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GAGATTTGAACGGCTGAGGTT	0.448000													11	18					0	0	0.411799	0	0
UBN2	254048	broad.mit.edu	37	7	138967976	138967976	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:138967976G>A	ENST00000288561.8	+	15	2325	c.2076G>A	c.(2074-2076)gcG>gcA	p.A692A	UBN2_ENST00000473989.2_Silent_p.A775A	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	775										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAGCTTTAGCGGTTATCAACA	0.478000													22	112					0	0	0.624587	0	0
USH2A	7399	broad.mit.edu	37	1	215799123	215799123	+	Nonstop_Mutation	SNP	T	T	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:215799123T>G	ENST00000366943.2	-	73	16067	c.15681A>C	c.(15679-15681)taA>taC	p.*5227Y	USH2A_ENST00000307340.3_Nonstop_Mutation_p.*5203Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	0					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTCCATCCTTTACAGGTGGG	0.453000										HNSCC(13;0.011)			8	60					0	0	0.278610	0	0
OR2T33	391195	broad.mit.edu	37	1	248436253	248436253	+	Nonsense_Mutation	SNP	G	G	C	rs145618749	by1000genomes	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:248436253G>C	ENST00000318021.2	-	1	885	c.864C>G	c.(862-864)taC>taG	p.Y288*		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTTCACACTGTAGATGAGGG	0.468000													31	166					0	0	0.750413	0	0
RFX2	5990	broad.mit.edu	37	19	5997191	5997191	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:5997191G>A	ENST00000303657.5	-	16	2042	c.1893C>T	c.(1891-1893)agC>agT	p.S631S	RFX2_ENST00000359161.3_Silent_p.S631S|RFX2_ENST00000592546.1_Silent_p.S606S|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGCTGGCAGCGCTGCGCAGGG	0.672000													12	33					0	0	0.411799	0	0
CSMD1	64478	broad.mit.edu	37	8	3216673	3216673	+	Splice_Site	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr8:3216673C>A	ENST00000602557.1	-	22	3863		c.e22+1		CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGACCACCTACCCACACACCT	0.582000													6	81					5.9392e-07	6.6816e-07	0.217242	1	0
NLRP3	114548	broad.mit.edu	37	1	247593009	247593009	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:247593009T>C	ENST00000366497.2	+	5	3059	c.2279T>C	c.(2278-2280)gTg>gCg	p.V760A	NLRP3_ENST00000391828.3_Missense_Mutation_p.V760A|NLRP3_ENST00000366496.2_Missense_Mutation_p.V760A|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000336119.3_Missense_Mutation_p.V760A|NLRP3_ENST00000348069.2_Intron	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	817					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGGATGAGAGTGTTGTGTGAA	0.512000													12	65					0	0	0.387290	0	0
DNMBP	23268	broad.mit.edu	37	10	101715031	101715031	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr10:101715031C>A	ENST00000342239.3	-	4	2291	c.2200G>T	c.(2200-2202)Gat>Tat	p.D734Y	DNMBP_ENST00000324109.4_Missense_Mutation_p.D734Y|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	734					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AACTTGAGATCCTCGAGGGTC	0.418000													5	177					3.59834e-05	3.8862e-05	0.217242	1	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859298	149859298	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:149859298C>G	ENST00000331128.3	-	1	168	c.169G>C	c.(169-171)Gag>Cag	p.E57Q		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	57					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTCAGGTACTCGAGGACCGCC	0.662000													9	72					0	0	0.361761	0	0
GPR32	2854	broad.mit.edu	37	19	51274133	51274133	+	Silent	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:51274133A>G	ENST00000270590.4	+	1	413	c.276A>G	c.(274-276)tcA>tcG	p.S92S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	92						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCATGCTCTCACTGTCTCTGC	0.552000													13	45					0	0	0.411799	0	0
NGB	58157	broad.mit.edu	37	14	77734858	77734858	+	Missense_Mutation	SNP	C	C	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr14:77734858C>A	ENST00000298352.4	-	3	646	c.272G>T	c.(271-273)aGc>aTc	p.S91I		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	91	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCTGCCCAGGCTGGCAAGGTA	0.587000													7	62					0.00307968	0.00322918	0.278610	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904214	144904214	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chrX:144904214C>T	ENST00000370490.1	+	1	4526	c.271C>T	c.(271-273)Ctt>Ttt	p.L91F	SLITRK2_ENST00000434188.2_Missense_Mutation_p.L91F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L91F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L91F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L91F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	91						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGCGGTGACTCTTCACCTAGG	0.463000													4	70					0	0	0.150653	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60987771	60987771	+	Silent	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:60987771C>T	ENST00000252998.1	-	13	1941	c.1785G>A	c.(1783-1785)acG>acA	p.T595T		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		CCTCCCCGGTCGTGCTCGTAG	0.687000													8	98					0	0	0.335167	0	0
KLC1	3831	broad.mit.edu	37	14	104145868	104145868	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr14:104145868G>T	ENST00000389744.4	+	13	1905	c.1636G>T	c.(1636-1638)Gta>Tta	p.V546L	KLC1_ENST00000557575.1_Missense_Mutation_p.V546L|KLC1_ENST00000452929.2_Missense_Mutation_p.V546L|KLC1_ENST00000347839.6_Intron|KLC1_ENST00000557450.1_Intron|KLC1_ENST00000380038.3_Intron|KLC1_ENST00000334553.6_Missense_Mutation_p.V546L|KLC1_ENST00000445352.4_Intron|KLC1_ENST00000553286.1_Missense_Mutation_p.V546L|KLC1_ENST00000348520.6_Missense_Mutation_p.V546L|KLC1_ENST00000246489.7_Missense_Mutation_p.V546L|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.V718L|KLC1_ENST00000555836.1_Intron|KLC1_ENST00000554280.1_Intron			Q07866	KLC1_HUMAN	kinesin light chain 1	546					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GAGTATGAGCGTAGAGTGGAA	0.612000													22	78					1.10923e-09	1.28814e-09	0.639603	1	0
GNAT3	346562	broad.mit.edu	37	7	80091851	80091851	+	Silent	SNP	G	G	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:80091851G>C	ENST00000398291.3	-	6	780	c.687C>G	c.(685-687)gcC>gcG	p.A229A	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	229					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCATGTCATAGGCACTAAGTG	0.403000													34	89					0	0	0.769981	0	0
REV1	51455	broad.mit.edu	37	2	100019482	100019482	+	Missense_Mutation	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:100019482C>T	ENST00000258428.3	-	20	3482	c.3254G>A	c.(3253-3255)aGg>aAg	p.R1085K	REV1_ENST00000393445.3_Missense_Mutation_p.R1084K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1085					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTCTGAATCCTTTTTGGTGA	0.403000								Direct reversal of damage					4	75					0	0	0.184627	0	0
ANKRD18A	253650	broad.mit.edu	37	9	38615607	38615607	+	Missense_Mutation	SNP	A	A	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr9:38615607A>C	ENST00000399703.5	-	3	853	c.479T>G	c.(478-480)aTt>aGt	p.I160S		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	160										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						TAGTGCTTCAATATTTGCATG	0.358000													4	16					0	0	0.150653	0	0
OR1N1	138883	broad.mit.edu	37	9	125289274	125289274	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr9:125289274T>C	ENST00000304880.2	-	1	298	c.299A>G	c.(298-300)tAt>tGt	p.Y100C		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CAGAAAGAAATACATTTGCGT	0.498000													16	40					0	0	0.539581	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153318667	153318667	+	Splice_Site	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:153318667C>T	ENST00000368739.3	-	3	408	c.49_splice	c.e3-1	p.G17_splice	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000359650.5_Splice_Site_p.G17_splice			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	17					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGGAATCACCTGCAAAGGA	0.488000													8	191					0	0	0.278610	0	0
BANF2	140836	broad.mit.edu	37	20	17705770	17705770	+	Missense_Mutation	SNP	A	A	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:17705770A>G	ENST00000246090.5	+	3	362	c.100A>G	c.(100-102)Aat>Gat	p.N34D	BANF2_ENST00000377805.3_Missense_Mutation_p.N34D|BANF2_ENST00000545418.2_Missense_Mutation_p.N41D	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	34						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						GCTCGCGATCAATTTGGTCAC	0.488000													4	152					0	0	0.217242	0	0
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343000													8	108					0	0	0.411799	0	0
KCNH1	3756	broad.mit.edu	37	1	211093085	211093085	+	Silent	SNP	C	C	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:211093085C>T	ENST00000367007.4	-	7	1447	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	KCNH1_ENST00000271751.4_Silent_p.S453S	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	453					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.S453S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGAAATACAACGAGGAGATGT	0.502000													21	94					0	0	0.575678	0	0
HNMT	3176	broad.mit.edu	37	2	138771555	138771555	+	Missense_Mutation	SNP	C	C	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:138771555C>G	ENST00000280097.3	+	6	916	c.734C>G	c.(733-735)aCt>aGt	p.T245S	HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.T245S	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	245					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	GATTTTTTGACTGAAACCTGC	0.428000													27	202					0	0	0.729181	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	43					0	0	0.115264	0	0
SLC9A6	10479	broad.mit.edu	37	X	135080342	135080342	+	Silent	SNP	A	A	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chrX:135080342A>C	ENST00000370695.4	+	3	636	c.601A>C	c.(601-603)Agg>Cgg	p.R201R	SLC9A6_ENST00000370698.3_Silent_p.R169R|SLC9A6_ENST00000370701.1_Silent_p.R149R	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	169					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TAGCCTGAAAAGGGTAAGTCC	0.313000													31	33					0	0	0.760397	0	0
CDYL	9425	broad.mit.edu	37	6	4935754	4935754	+	Missense_Mutation	SNP	T	T	C			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:4935754T>C	ENST00000328908.5	+	5	990	c.859T>C	c.(859-861)Tct>Cct	p.S287P	CDYL_ENST00000449732.2_Missense_Mutation_p.S101P|CDYL_ENST00000343762.5_Missense_Mutation_p.S101P|CDYL_ENST00000397588.3_Missense_Mutation_p.S233P|CDYL_ENST00000472453.1_3'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	287					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGCAGGTACATCTCCGTTCAT	0.438000													7	40					0	0	0.307466	0	0
ETV4	2118	broad.mit.edu	37	17	41611247	41611247	+	Silent	SNP	G	G	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr17:41611247G>A	ENST00000319349.5	-	6	661	c.363C>T	c.(361-363)ggC>ggT	p.G121G	ETV4_ENST00000538265.1_Silent_p.G82G|ETV4_ENST00000393664.2_Silent_p.G121G|ETV4_ENST00000591713.1_Silent_p.G121G|ETV4_ENST00000545954.1_Silent_p.G82G|ETV4_ENST00000545089.1_Silent_p.G121G	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	121					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GGCACTGCTCGCCATGGTGGT	0.657000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								4	21					0	0	0.184627	0	0
OR2B2	81697	broad.mit.edu	37	6	27879450	27879450	+	Silent	SNP	T	T	G	rs147063988	by1000genomes	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr6:27879450T>G	ENST00000303324.2	-	1	724	c.648A>C	c.(646-648)atA>atC	p.I216I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I216I(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AAGCATACGATATAAGGATGA	0.443000													3	82					0	0	0.115264	0	0
EMB	133418	broad.mit.edu	37	5	49707089	49707089	+	Missense_Mutation	SNP	G	G	T			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr5:49707089G>T	ENST00000303221.5	-	3	540	c.325C>A	c.(325-327)Caa>Aaa	p.Q109K	EMB_ENST00000508934.1_Intron|EMB_ENST00000514111.1_Missense_Mutation_p.Q59K|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	109	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTCTCAAGTTGTTCACCATCT	0.373000													25	113					4.4004e-07	5.00256e-07	0.654019	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161018367	161018367	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr1:161018367delC	ENST00000368013.3	-	12	2764	c.2444delG	c.(2443-2445)gafs	p.G815fs	ARHGAP30_ENST00000368015.1_Frame_Shift_Del_p.G638fs|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	815	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TTCACCATCTCCTTGGTCTTT	0.537													39	149	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	6	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52637711	52637712	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr3:52637711_52637712insA	ENST00000356770.4	-	16	2510_2511	c.2508_2509insT	c.(2506-2511)ctagcafs	p.A837fs	PBRM1_ENST00000296302.7_Frame_Shift_Ins_p.A869fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.A869fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.A884fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.A884fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.A869fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.A869fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.A869fs			Q86U86	PB1_HUMAN	polybromo 1	869	Bromo 6.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.Q869*(2)|p.Q837*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAAAACTGCTGAAGTTCTACTG	0.337			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								10	34	---	---	---	---					
LIMCH1	22998	broad.mit.edu	37	4	41687773	41687774	+	In_Frame_Ins	INS	-	-	GAT			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr4:41687773_41687774insGAT	ENST00000313860.7	+	23	2916_2917	c.2862_2863insGAT	c.(2860-2865)gaatgt>gaGATatgt	p.954_955EC>EIC	LIMCH1_ENST00000381753.4_In_Frame_Ins_p.787_788EC>EIC|LIMCH1_ENST00000512820.1_In_Frame_Ins_p.966_967EC>EIC|LIMCH1_ENST00000512632.1_In_Frame_Ins_p.877_878EC>EIC|LIMCH1_ENST00000396595.3_In_Frame_Ins_p.799_800EC>EIC|LIMCH1_ENST00000508501.1_In_Frame_Ins_p.953_954EC>EIC|LIMCH1_ENST00000514096.1_In_Frame_Ins_p.794_795EC>EIC|LIMCH1_ENST00000511496.1_In_Frame_Ins_p.794_795EC>EIC|LIMCH1_ENST00000513024.1_In_Frame_Ins_p.807_808EC>EIC|LIMCH1_ENST00000512946.1_In_Frame_Ins_p.954_955EC>EIC|LIMCH1_ENST00000503057.1_In_Frame_Ins_p.1338_1339EC>EIC|LIMCH1_ENST00000509277.1_In_Frame_Ins_p.787_788EC>EIC	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	954					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ACAGTTCAGAAGATGTGAAGCC	0.450													9	61	---	---	---	---					
LIMK1	3984	broad.mit.edu	37	7	73526304	73526310	+	Frame_Shift_Del	DEL	CTCCCAC	CTCCCAC	-	rs150858705		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:73526304_73526310delCTCCCAC	ENST00000418310.1	+	12	1578_1584	c.1476_1482delCTCCCAC	c.(1474-1482)aafs	p.NSH492fs	LIMK1_ENST00000538333.3_Frame_Shift_Del_p.NSH428fs|LIMK1_ENST00000336180.2_Frame_Shift_Del_p.NSH462fs			P53667	LIMK1_HUMAN	LIM domain kinase 1	462	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GAGACCTCAACTCCCACAACTGCCTGG	0.647													10	95	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													3	5	---	---	---	---					
OR1J1	347168	broad.mit.edu	37	9	125239867	125239875	+	In_Frame_Del	DEL	GAAACTGTC	GAAACTGTC	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr9:125239867_125239875delGAAACTGTC	ENST00000259357.2	-	1	360_368	c.331_339delGACAGTTTC	c.(331-339)del	p.DSF111del		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGTGATAAGGAAACTGTCTAAGTCAGCA	0.435													15	47	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	A	rs141435934		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr11:66321927_66321928insA	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.540													3	4	---	---	---	---					
SYT10	341359	broad.mit.edu	37	12	33579216	33579217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:33579216_33579217insG	ENST00000228567.3	-	2	661_662	c.365_366insC	c.(364-366)cgcfs	p.R122fs	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	122						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTTTTACGGCTGGCTTTTCATT	0.391													7	301	---	---	---	---					
CCDC63	160762	broad.mit.edu	37	12	111336801	111336811	+	Frame_Shift_Del	DEL	AGACCTTGGAT	AGACCTTGGAT	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:111336801_111336811delAGACCTTGGAT	ENST00000308208.5	+	10	1456_1466	c.1214_1224delAGACCTTGGAT	c.(1213-1224)afs	p.KTLD405fs	CCDC63_ENST00000552694.1_Frame_Shift_Del_p.KTLD326fs|CCDC63_ENST00000545036.1_Frame_Shift_Del_p.KTLD365fs	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	405								p.D408Y(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GAGGTCAGCAAGACCTTGGATCTATTGAAGA	0.512													21	94	---	---	---	---					
TAOK3	51347	broad.mit.edu	37	12	118598053	118598053	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr12:118598053delG	ENST00000392533.3	-	19	2740	c.2250delC	c.(2248-2250)cafs	p.H750fs	TAOK3_ENST00000537952.1_Frame_Shift_Del_p.H290fs|TAOK3_ENST00000419821.2_Frame_Shift_Del_p.H750fs|TAOK3_ENST00000543709.1_5'UTR	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	750					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGATTGTTTTGTGCTCATTCT	0.373													55	225	---	---	---	---					
LOC100131347	100131347	broad.mit.edu	37	17	37213527	37213528	+	RNA	INS	-	-	TTG	rs71141752		TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr17:37213527_37213528insTTG	ENST00000583447.1	+	0	141					NR_036551.1																						GAAGGACTCttttttttttttt	0.550													3	6	---	---	---	---					
ZNF585B	92285	broad.mit.edu	37	19	37677424	37677424	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr19:37677424delA	ENST00000532828.2	-	5	1266	c.1015delT	c.(1015-1017)ccfs	p.S339fs	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Frame_Shift_Del_p.S284fs|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAGGTTGGAATTATTGCTG	0.398													52	186	---	---	---	---					
SAMHD1	25939	broad.mit.edu	37	20	35579886	35579886	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B4-5832-01A-11D-1669-08	TCGA-B4-5832-10A-01D-1669-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79268e8f-97a3-4b91-968f-e5a98832130d	ee7e6709-2157-4f53-b3ed-5dcee397c04d	g.chr20:35579886delA	ENST00000262878.4	-	1	360	c.161delT	c.(160-162)ccfs	p.L54fs	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	54	SAM.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ACCGCGCCTGAGGAAGGAGCA	0.677													62	211	---	---	---	---