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
EGFR	1956	broad.mit.edu	37	7	55268060	55268060	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:55268060A>C	ENST00000275493.2	+	24	3077	c.2900A>C	c.(2899-2901)gAa>gCa	p.E967A	EGFR_ENST00000455089.1_Missense_Mutation_p.E922A|EGFR_ENST00000454757.2_Missense_Mutation_p.E914A|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	967	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TTGATCATCGAATTCTCCAAA	0.473000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			41	70					0	0	0.859065	0	0
CLCN6	1185	broad.mit.edu	37	1	11893658	11893658	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:11893658G>A	ENST00000346436.6	+	14	1387	c.1335G>A	c.(1333-1335)ccG>ccA	p.P445P	CLCN6_ENST00000376496.3_Silent_p.P445P|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.P423P	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	445					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCAACCCGCAGGAGTCTG	0.493000													19	21					0	0	0.575678	0	0
PPFIA2	8499	broad.mit.edu	37	12	81746976	81746976	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:81746976G>C	ENST00000550584.2	-	16	2211	c.1916C>G	c.(1915-1917)tCt>tGt	p.S639C	PPFIA2_ENST00000548586.1_Missense_Mutation_p.S639C|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S621C|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S486C|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S639C|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S565C|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S621C|PPFIA2_ENST00000541570.2_Missense_Mutation_p.S206C|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S540C|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S639C	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	565										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACCACTTGGAGAGAGAAGATC	0.408000													28	51					0	0	0.740014	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714808	65714808	+	RNA	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:65714808C>T	ENST00000532620.1	+	0	743							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AACCTGAAGGCGAGACAGCAG	0.652000													5	14					0	0	0.248553	0	0
GRIK3	2899	broad.mit.edu	37	1	37271729	37271729	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:37271729C>T	ENST00000373091.3	-	14	2306	c.2290G>A	c.(2290-2292)Ggc>Agc	p.G764S	GRIK3_ENST00000373093.4_Missense_Mutation_p.G764S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	764					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATGCCGTAGCCCTTGGAGTCA	0.667000													25	45					0	0	0.667858	0	0
ENTPD5	957	broad.mit.edu	37	14	74440678	74440678	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:74440678G>C	ENST00000334696.6	-	12	1107	c.788C>G	c.(787-789)aCt>aGt	p.T263S	ENTPD5_ENST00000557325.1_Missense_Mutation_p.T263S	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	263					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GTGCCCATCAGTCCCTGAAAG	0.512000													31	60					0	0	0.760397	0	0
ERBB3	2065	broad.mit.edu	37	12	56495083	56495083	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:56495083C>T	ENST00000267101.3	+	27	3880	c.3440C>T	c.(3439-3441)tCc>tTc	p.S1147F	ERBB3_ENST00000549832.1_Missense_Mutation_p.S267F|ERBB3_ENST00000450146.2_Missense_Mutation_p.S504F|ERBB3_ENST00000415288.2_Missense_Mutation_p.S1088F|ERBB3_ENST00000553131.1_Missense_Mutation_p.S388F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1147					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCCCACTCTCCCCACCCGGG	0.572000													22	35					0	0	0.654019	0	0
IL1R1	3554	broad.mit.edu	37	2	102782600	102782600	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:102782600A>G	ENST00000410023.1	+	6	832	c.514A>G	c.(514-516)Ata>Gta	p.I172V	IL1R1_ENST00000424272.1_Missense_Mutation_p.I172V|IL1R1_ENST00000409929.1_Missense_Mutation_p.I172V|IL1R1_ENST00000409329.1_Missense_Mutation_p.I172V|IL1R1_ENST00000409288.1_Missense_Mutation_p.I172V|IL1R1_ENST00000233946.3_Missense_Mutation_p.I172V|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	172	Ig-like C2-type 2.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TCTTGACAATATACACTTTAG	0.413000													24	40					0	0	0.681144	0	0
TMEM59L	25789	broad.mit.edu	37	19	18731326	18731326	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:18731326C>T	ENST00000600490.1	+	9	1194	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	TMEM59L_ENST00000262817.3_Silent_p.L337L			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	337						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CAAGCTGAAGCTGGACCTGAC	0.657000													22	39					0	0	0.654019	0	0
UNC13C	440279	broad.mit.edu	37	15	54527261	54527261	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr15:54527261G>A	ENST00000545554.1	+	4	3105	c.3105G>A	c.(3103-3105)atG>atA	p.M1035I	UNC13C_ENST00000537900.1_Missense_Mutation_p.M1035I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M1035I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1035					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGACAGCATGCCGGATCTTC	0.373000													10	27					0	0	0.387290	0	0
BAGE2	85319	broad.mit.edu	37	21	11039141	11039141	+	RNA	SNP	G	G	T	rs71292113		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr21:11039141G>T	ENST00000470054.1	-	0	1062									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACATAATGAAGTGCTTTCCTC	0.398000													15	240					2.32078e-09	2.42317e-09	0.479597	1	0
WDR33	55339	broad.mit.edu	37	2	128480839	128480839	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:128480839C>T	ENST00000322313.4	-	12	1437	c.1279G>A	c.(1279-1281)Gga>Aga	p.G427R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	427					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TATTCTACTCCATCTTCAGAC	0.348000													40	99					0	0	0.853193	0	0
FABP9	646480	broad.mit.edu	37	8	82373746	82373746	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:82373746A>G	ENST00000379071.2	-	1	68	c.13T>C	c.(13-15)Ttc>Ctc	p.F5L	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	5							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			GTTCCCAAGAAGGGCTCAACC	0.403000													42	147					0	0	0.847076	0	0
ATG16L1	55054	broad.mit.edu	37	2	234198586	234198586	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:234198586G>A	ENST00000392017.4	+	13	1547	c.1290G>A	c.(1288-1290)cgG>cgA	p.R430R	ATG16L1_ENST00000392018.1_Silent_p.R447R|ATG16L1_ENST00000392020.4_Silent_p.R411R|ATG16L1_ENST00000347464.5_Silent_p.R267R|ATG16L1_ENST00000373525.5_Silent_p.R251R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	430					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GTCACGACCGGACTCTCAAAC	0.502000													18	41					0	0	0.592651	0	0
ASXL1	171023	broad.mit.edu	37	20	31021439	31021439	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:31021439G>A	ENST00000375687.4	+	12	1862	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	ASXL1_ENST00000306058.5_Missense_Mutation_p.E475K	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	480					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGAGGGTCCCGAATTCCCAGT	0.597000			"""F, N, Mis"""		"""MDS, CMML"""								15	161					0	0	0.479597	0	0
AXDND1	126859	broad.mit.edu	37	1	179354444	179354444	+	Silent	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:179354444A>G	ENST00000367618.3	+	9	1200	c.813A>G	c.(811-813)cgA>cgG	p.R271R	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Silent_p.R271R	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	271										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AACTTATTCGACAAGTCAGTG	0.358000													57	24					0	0	0.870114	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			12	46					0	0	0.435327	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123471189	123471189	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:123471189C>T	ENST00000529750.1	+	7	881	c.554C>T	c.(553-555)tCg>tTg	p.S185L	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.S185L|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.S192L	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	185						integral to membrane		p.S185L(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TTCTTCACTTCGTTTGGGGCC	0.408000													12	20					0	0	0.435327	0	0
DNAH7	56171	broad.mit.edu	37	2	196726633	196726633	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:196726633C>T	ENST00000312428.6	-	42	7644	c.7544G>A	c.(7543-7545)cGa>cAa	p.R2515Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2515	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCAAGAATCGTGAGGCAAC	0.378000													18	33					0	0	0.539581	0	0
WDR27	253769	broad.mit.edu	37	6	170052099	170052099	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr6:170052099G>A	ENST00000333572.6	-	14	1927	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	WDR27_ENST00000423258.1_Missense_Mutation_p.R343W|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.R470W			A2RRH5	WDR27_HUMAN	WD repeat domain 27	440			P -> L (in dbSNP:rs34313252).							endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ATGACGTTCCGTGCAGCTGTG	0.413000													9	19					0	0	0.387290	0	0
RYR3	6263	broad.mit.edu	37	15	33927847	33927847	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr15:33927847A>G	ENST00000389232.4	+	26	3278	c.3208A>G	c.(3208-3210)Aag>Gag	p.K1070E	RYR3_ENST00000415757.3_Missense_Mutation_p.K1070E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1070	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCATAGACAAGATCCGATT	0.473000													9	19					0	0	0.361761	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329719	88329719	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr13:88329719G>A	ENST00000325089.6	+	2	2295	c.2076G>A	c.(2074-2076)agG>agA	p.R692R	SLITRK5_ENST00000400028.3_Silent_p.R451R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	692						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGAAGCGCAGGAAGAAGAACC	0.607000													6	47					0	0	0.278610	0	0
FBXO46	23403	broad.mit.edu	37	19	46215924	46215924	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:46215924C>T	ENST00000317683.3	-	2	963	c.830G>A	c.(829-831)gGc>gAc	p.G277D		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	277							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		ACTGGGCAGGCCGCTGTCTGG	0.697000													13	14					0	0	0.479597	0	0
A2M	2	broad.mit.edu	37	12	9265043	9265043	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:9265043C>T	ENST00000318602.7	-	3	667	c.360G>A	c.(358-360)gtG>gtA	p.V120V		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	120					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCTTAACCATCACTGTGGTCC	0.453000													15	22					0	0	0.500413	0	0
PTK2	5747	broad.mit.edu	37	8	141900671	141900671	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:141900671T>C	ENST00000522684.1	-	3	395	c.166A>G	c.(166-168)Atc>Gtc	p.I56V	PTK2_ENST00000535192.1_Missense_Mutation_p.I56V|PTK2_ENST00000521059.1_Missense_Mutation_p.I56V|PTK2_ENST00000519419.1_Missense_Mutation_p.I100V|PTK2_ENST00000517887.1_Missense_Mutation_p.I100V|PTK2_ENST00000520892.1_Missense_Mutation_p.I56V|PTK2_ENST00000395218.2_Missense_Mutation_p.I56V|PTK2_ENST00000340930.3_Missense_Mutation_p.I56V|PTK2_ENST00000519881.1_Missense_Mutation_p.I56V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	56	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CCATGCCTGATAATACTGGCC	0.393000													29	104					0	0	0.760397	0	0
MAGEB4	4115	broad.mit.edu	37	X	30260591	30260591	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chrX:30260591G>A	ENST00000378982.2	+	1	535	c.339G>A	c.(337-339)acG>acA	p.T113T		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	113	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCAGGAAGACGAAGATGTTAG	0.443000													6	2					0	0	0.217242	0	0
CD180	4064	broad.mit.edu	37	5	66479050	66479050	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:66479050T>C	ENST00000256447.4	-	3	1778	c.1621A>G	c.(1621-1623)Agc>Ggc	p.S541G		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	541					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TTAAGATGGCTAAGAGAATCA	0.468000													9	53					0	0	0.307466	0	0
IZUMO4	113177	broad.mit.edu	37	19	2097286	2097286	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:2097286T>G	ENST00000395307.2	+	2	818	c.253T>G	c.(253-255)Tac>Gac	p.Y85D	IZUMO4_ENST00000588003.1_3'UTR|IZUMO4_ENST00000395296.1_Missense_Mutation_p.Y85D|IZUMO4_ENST00000395301.3_Missense_Mutation_p.Y85D	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	85						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						GACAGCAGTGTACCAGATGAT	0.697000											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	38					0	0	0.667858	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554437	85554437	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:85554437A>G	ENST00000377386.3	-	2	880	c.418T>C	c.(418-420)Tcg>Ccg	p.S140P	TGOLN2_ENST00000398263.2_Missense_Mutation_p.S140P|TGOLN2_ENST00000409015.1_Missense_Mutation_p.S140P|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.S140P|TGOLN2_ENST00000444342.2_Missense_Mutation_p.S140P			O43493	TGON2_HUMAN	trans-golgi network protein 2	140	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TCCGCACCCGATTTGCCAGTG	0.592000													201	358					0	0	0.870114	0	0
PIK3R6	146850	broad.mit.edu	37	17	8730512	8730512	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:8730512C>T	ENST00000311434.9	-	13	1731	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	498					platelet activation	cytosol											TTGTGGATGGCGGGGCACAGC	0.662000													6	9					0	0	0.217242	0	0
CHD7	55636	broad.mit.edu	37	8	61765709	61765709	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:61765709C>T	ENST00000423902.2	+	31	6904	c.6425C>T	c.(6424-6426)tCc>tTc	p.S2142F	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2142					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AATACATCTTCCTTGAACCCA	0.463000													29	19					0	0	0.750413	0	0
CNTROB	116840	broad.mit.edu	37	17	7847852	7847852	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:7847852G>A	ENST00000380262.3	+	12	2555	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	CNTROB_ENST00000565740.1_Missense_Mutation_p.E544K|CNTROB_ENST00000380255.3_Intron|CNTROB_ENST00000563694.1_Missense_Mutation_p.E544K	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	544	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGCTGGAGGAGCAGCGGGT	0.622000													24	34					0	0	0.624587	0	0
SDK1	221935	broad.mit.edu	37	7	4198148	4198148	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:4198148G>A	ENST00000404826.2	+	31	4833	c.4694G>A	c.(4693-4695)aGt>aAt	p.S1565N	SDK1_ENST00000389531.3_Missense_Mutation_p.S1565N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1565	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTGACTTCAGTTCAGAGACA	0.627000													15	51					0	0	0.500413	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43545614	43545614	+	Silent	SNP	T	T	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:43545614T>A	ENST00000430334.3	-	5	1402	c.1269A>T	c.(1267-1269)ggA>ggT	p.G423G	PLEKHM1_ENST00000421073.2_Silent_p.G334G	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	423					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TCAGACCAGCTCCGTCATGAG	0.587000													4	18					0	0	0.248553	0	0
PHRF1	57661	broad.mit.edu	37	11	611008	611008	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:611008A>T	ENST00000264555.5	+	17	4860	c.4732A>T	c.(4732-4734)Atc>Ttc	p.I1578F	PHRF1_ENST00000416188.2_Missense_Mutation_p.I1577F|PHRF1_ENST00000533464.1_Missense_Mutation_p.I1574F|PHRF1_ENST00000413872.2_Missense_Mutation_p.I1576F	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1578							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAAGCTGGCCATCAAGCCCTT	0.592000													9	17					0	0	0.335167	0	0
UBXN10	127733	broad.mit.edu	37	1	20517058	20517058	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:20517058G>A	ENST00000375099.3	+	2	88	c.4G>A	c.(4-6)Gcc>Acc	p.A2T		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	2										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AGAAGCAATGGCCACAGAAGC	0.502000													41	73					0	0	0.834066	0	0
STK32C	282974	broad.mit.edu	37	10	134036234	134036234	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:134036234T>A	ENST00000368622.1	-	10	1192	c.811A>T	c.(811-813)Atg>Ttg	p.M271L	STK32C_ENST00000368625.4_Missense_Mutation_p.M401L			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	388	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCCAGGATCATCTCCTCCAGC	0.627000													7	6					0	0	0.278610	0	0
ATRN	8455	broad.mit.edu	37	20	3565467	3565467	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:3565467C>T	ENST00000262919.5	+	18	3192	c.3124C>T	c.(3124-3126)Ctc>Ttc	p.L1042F	ATRN_ENST00000446916.2_Missense_Mutation_p.L1042F	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1042	PSI 4.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ACAGCCCCTGCTCAATTCCAG	0.458000													59	101					0	0	0.870114	0	0
OLAH	55301	broad.mit.edu	37	10	15107610	15107610	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:15107610G>T	ENST00000378217.3	+	7	776	c.589G>T	c.(589-591)Gat>Tat	p.D197Y	OLAH_ENST00000378228.3_Missense_Mutation_p.D144Y|OLAH_ENST00000485251.1_3'UTR	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	144					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CATTCCCAAAGATGATGAATT	0.393000													23	33					2.48779e-11	2.63632e-11	0.693898	1	0
ZNF761	388561	broad.mit.edu	37	19	53959873	53959873	+	RNA	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:53959873C>T	ENST00000454407.1	+	0	2565							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGAAGTCATCCCTTATATGCC	0.388000													27	65					0	0	0.693898	0	0
SYCP2	10388	broad.mit.edu	37	20	58443591	58443591	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:58443591A>T	ENST00000357552.3	-	38	4090	c.3865T>A	c.(3865-3867)Tat>Aat	p.Y1289N	SYCP2_ENST00000371001.2_Missense_Mutation_p.Y1289N			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1289					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTTCTATATATATTCTTTTG	0.333000													26	33					0	0	0.693898	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830958	13830958	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:13830958T>G	ENST00000284951.5	-	19	1900	c.1826A>C	c.(1825-1827)cAc>cCc	p.H609P	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.H496P			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	609						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCTGGCCAAGTGAATGTCCTA	0.438000													17	49					0	0	0.500413	0	0
TCEA2	6919	broad.mit.edu	37	20	62701952	62701952	+	Nonsense_Mutation	SNP	C	C	A	rs141114667		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:62701952C>A	ENST00000361317.2	+	9	1144	c.702C>A	c.(700-702)tgC>tgA	p.C234*	TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Nonsense_Mutation_p.C261*	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	261	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCACCTGCGGCAAGTGCA	0.632000													10	11					0.000442599	0.000452152	0.335167	1	0
SWI5	375757	broad.mit.edu	37	9	131038579	131038579	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr9:131038579C>T	ENST00000320188.4	+	1	155	c.155C>T	c.(154-156)cCt>cTt	p.P52L		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	52					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GTCAGAGTTCCTGGCCCGGTG	0.701000													7	32					0	0	0.248553	0	0
HOXC9	3225	broad.mit.edu	37	12	54396311	54396311	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:54396311C>T	ENST00000303450.4	+	2	706	c.636C>T	c.(634-636)ctC>ctT	p.L212L	HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Silent_p.L212L	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	212					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGGAGTTTCTCTTCAATATGT	0.547000													25	56					0	0	0.639603	0	0
SOX11	6664	broad.mit.edu	37	2	5833021	5833021	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:5833021C>T	ENST00000322002.3	+	1	223	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	56					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGAACGCGTTCATGGTATGGT	0.602000													6	11					0	0	0.278610	0	0
GMPS	8833	broad.mit.edu	37	3	155652794	155652794	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:155652794G>T	ENST00000496455.1	+	14	2101	c.1766G>T	c.(1765-1767)cGc>cTc	p.R589L	GMPS_ENST00000295920.7_Missense_Mutation_p.R490L	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	589					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGTACTTTACGCCAAGCTGAT	0.408000			T	MLL	AML								58	162					3.77215e-22	4.0889e-22	0.870114	1	0
FAM150A	389658	broad.mit.edu	37	8	53452400	53452400	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:53452400T>C	ENST00000358543.4	-	3	566	c.316A>G	c.(316-318)Acg>Gcg	p.T106A	FAM150A_ENST00000523939.1_Missense_Mutation_p.T106A	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	106						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				CAAGCTGGCGTTGAGCACTCC	0.388000													39	30					0	0	0.840704	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302902	15302902	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:15302902C>G	ENST00000263388.2	-	4	623	c.548G>C	c.(547-549)tGc>tCc	p.C183S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	183	EGF-like 4; calcium-binding (Potential).		C -> F (in CADASIL).|C -> R (in CADASIL).|C -> S (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGACACTGGCAGCGGAAGGA	0.672000													12	32					0	0	0.457914	0	0
WSCD2	9671	broad.mit.edu	37	12	108604016	108604016	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:108604016G>A	ENST00000332082.4	+	5	1434	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	WSCD2_ENST00000549903.1_Missense_Mutation_p.V206M|WSCD2_ENST00000261400.3_Missense_Mutation_p.V206M|WSCD2_ENST00000547525.1_Missense_Mutation_p.V206M			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	206	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCGAGGCAGCGTGTGCGGCGG	0.682000													7	10					0	0	0.248553	0	0
DHRS2	10202	broad.mit.edu	37	14	24114424	24114424	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:24114424G>A	ENST00000250383.6	+	9	1281	c.805G>A	c.(805-807)Gag>Aag	p.E269K	DHRS2_ENST00000344777.7_Silent_p.G272G	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	247					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CGTCAACGGGGAGAACATTGC	0.607000													46	68					0	0	0.859065	0	0
SNX14	57231	broad.mit.edu	37	6	86259572	86259572	+	Silent	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr6:86259572T>C	ENST00000314673.3	-	8	836	c.660A>G	c.(658-660)caA>caG	p.Q220Q	SNX14_ENST00000346348.3_Silent_p.Q176Q|SNX14_ENST00000369627.2_Silent_p.Q220Q|SNX14_ENST00000513865.1_Silent_p.Q220Q|SNX14_ENST00000505648.1_Silent_p.Q168Q|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	220	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CTAAAGCAGCTTGCTGTAAAA	0.308000													23	42					0	0	0.667858	0	0
ELAVL4	1996	broad.mit.edu	37	1	50663122	50663122	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:50663122G>A	ENST00000371824.1	+	6	1013	c.756G>A	c.(754-756)atG>atA	p.M252I	ELAVL4_ENST00000371819.1_Missense_Mutation_p.M257I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.M255I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.M257I|ELAVL4_ENST00000357083.4_Missense_Mutation_p.M269I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.M252I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.M252I			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	252					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGCTTAATATGGCCTATGGCG	0.403000													55	109					0	0	0.870114	0	0
NKAIN1	79570	broad.mit.edu	37	1	31655404	31655404	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:31655404T>G	ENST00000373736.2	-	5	511	c.505A>C	c.(505-507)Aaa>Caa	p.K169Q	NKAIN1_ENST00000263693.1_Missense_Mutation_p.K125Q|NKAIN1_ENST00000398657.2_Missense_Mutation_p.K98Q	NM_024522.2	NP_078798.2	Q4KMZ8	NKAI1_HUMAN	Na+/K+ transporting ATPase interacting 1	169						integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		AGGAACACTTTGCTCACGTAG	0.632000													19	52					0	0	0.575678	0	0
CDK13	8621	broad.mit.edu	37	7	40134010	40134010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:40134010C>T	ENST00000181839.4	+	14	4575	c.3970C>T	c.(3970-3972)Caa>Taa	p.Q1324*	CDK13_ENST00000340829.5_Nonsense_Mutation_p.Q1264*	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1324					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GATTGATTATCAAGCAGGAGA	0.483000													29	52					0	0	0.717897	0	0
RAB4B-EGLN2	100529264	broad.mit.edu	37	19	41289968	41289968	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:41289968G>T	ENST00000594136.1	+	5	523	c.418G>T	c.(418-420)Gcc>Tcc	p.A140S	RAB4B_ENST00000594800.1_Missense_Mutation_p.A140S|RAB4B_ENST00000602069.1_3'UTR|RAB4B-EGLN2_ENST00000601949.1_Intron|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.A140S																							CTCCCGCTTTGCCCAGGAGAA	0.627000													18	29					8.34094e-07	8.5827e-07	0.575678	1	0
WDR63	126820	broad.mit.edu	37	1	85555914	85555914	+	Splice_Site	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:85555914A>T	ENST00000294664.6	+	8	1036	c.857_splice	c.e8+1	p.S286_splice	WDR63_ENST00000326813.8_Intron|WDR63_ENST00000370596.1_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	286										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TGCATCCATAAGGTAAAAAAT	0.279000													20	21					0	0	0.557998	0	0
SFRP4	6424	broad.mit.edu	37	7	37951727	37951727	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:37951727C>T	ENST00000436072.2	-	4	1162	c.785G>A	c.(784-786)cGc>cAc	p.R262H	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	262	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTACCTTGAGCGCCACTCGTA	0.443000													18	51					0	0	0.539581	0	0
CACNA1I	8911	broad.mit.edu	37	22	40061518	40061518	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:40061518G>A	ENST00000336649.4	+	25	3885	c.3885G>A	c.(3883-3885)gcG>gcA	p.A1295A	CACNA1I_ENST00000402142.3_Silent_p.A1289A|CACNA1I_ENST00000407673.1_Silent_p.A1254A|CACNA1I_ENST00000404898.1_Silent_p.A1254A|CACNA1I_ENST00000401624.1_Silent_p.A1289A|CACNA1I_ENST00000400164.3_Silent_p.A1254A			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1289					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCAGCCGGGCGCCGGGCCTGA	0.617000													22	32					0	0	0.608945	0	0
INTU	27152	broad.mit.edu	37	4	128564981	128564981	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr4:128564981G>A	ENST00000335251.5	+	2	555	c.452G>A	c.(451-453)gGa>gAa	p.G151E	INTU_ENST00000296461.5_Missense_Mutation_p.G151E	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	151										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CAGAAGACAGGAGTCATTGTC	0.388000													36	63					0	0	0.796494	0	0
IGF2	3481	broad.mit.edu	37	11	2154782	2154782	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:2154782C>T	ENST00000416167.2	-	3	1437	c.271G>A	c.(271-273)Gag>Aag	p.E91K	IGF2_ENST00000337883.6_Missense_Mutation_p.E91K|IGF2_ENST00000418738.2_Missense_Mutation_p.E91K|IGF2_ENST00000434045.2_Missense_Mutation_p.E147K|IGF2_ENST00000381389.1_Missense_Mutation_p.E91K|IGF2_ENST00000381395.1_Missense_Mutation_p.E91K|IGF2_ENST00000300632.5_Missense_Mutation_p.E91K|IGF2_ENST00000381406.4_Missense_Mutation_p.E94K|IGF2_ENST00000381392.1_Missense_Mutation_p.E94K			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	91	D.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACGTCCCTCTCGGACTTGGCG	0.652000													15	15					0	0	0.520397	0	0
PEX11G	92960	broad.mit.edu	37	19	7543261	7543261	+	Splice_Site	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:7543261A>G	ENST00000593942.1	-	6	722	c.218_splice	c.e6-1	p.S74_splice	PEX11G_ENST00000599519.1_5'UTR|PEX11G_ENST00000221480.1_Splice_Site_p.S144_splice			Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	144						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						ATCCACAGGGACCTGCAGCAC	0.672000													8	6					0	0	0.335167	0	0
SSTR4	6754	broad.mit.edu	37	20	23017025	23017025	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:23017025C>T	ENST00000255008.3	+	1	969	c.905C>T	c.(904-906)gCc>gTc	p.A302V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	302					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTTAGCTATGCCAACAGCTGC	0.577000													33	111					0	0	0.796494	0	0
CBX6	23466	broad.mit.edu	37	22	39262468	39262468	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:39262468G>T	ENST00000407418.3	-	5	1108	c.985C>A	c.(985-987)Ccg>Acg	p.P329T	CBX6_ENST00000216083.6_Missense_Mutation_p.P311T			O95503	CBX6_HUMAN	chromobox homolog 6	329					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					ACCTCAGGCGGTGCCCGCTTG	0.756000													7	9					2.7689e-08	2.86995e-08	0.248553	1	0
GPR158	57512	broad.mit.edu	37	10	25886968	25886968	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:25886968G>A	ENST00000376351.3	+	11	2772	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	805						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATCCAAGGAGGAGACCCTGAA	0.542000													31	52					0	0	0.729181	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352661	58352661	+	Missense_Mutation	SNP	T	T	A	rs148810844	by1000genomes	TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:58352661T>A	ENST00000442832.4	+	3	853	c.619T>A	c.(619-621)Ttt>Att	p.F207I	ZNF587B_ENST00000594901.1_Missense_Mutation_p.F207I|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000316462.4_Intron	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	207					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.F207I(1)									TGTGTCTCCCTTTCAGTGTGG	0.493000													4	34					0	0	0.150653	0	0
PLA1A	51365	broad.mit.edu	37	3	119327618	119327618	+	Splice_Site	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:119327618G>T	ENST00000273371.4	+	3	349	c.275_splice	c.e3-1	p.V93_splice	PLA1A_ENST00000495992.1_Splice_Site_p.V93_splice|PLA1A_ENST00000494440.1_Splice_Site_p.V77_splice|PLA1A_ENST00000488919.1_5'UTR	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	93					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGTCTAGGGTTTTAGGAAC	0.408000													44	137					3.86236e-30	4.25159e-30	0.870114	1	0
TTN	7273	broad.mit.edu	37	2	179654095	179654095	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:179654095G>C	ENST00000589042.1	-	13	2292	c.2068C>G	c.(2068-2070)Cat>Gat	p.H690D	TTN_ENST00000360870.5_Missense_Mutation_p.H690D|TTN_ENST00000591111.1_Missense_Mutation_p.H690D|TTN_ENST00000342175.6_Missense_Mutation_p.H644D|TTN_ENST00000359218.5_Missense_Mutation_p.H644D|TTN_ENST00000342992.6_Missense_Mutation_p.H690D|TTN_ENST00000460472.2_Missense_Mutation_p.H644D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	690							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTCCATGGGTAACTTGG	0.338000													37	77					0	0	0.859065	0	0
KPRP	448834	broad.mit.edu	37	1	152732834	152732834	+	Missense_Mutation	SNP	C	C	T	rs147534038	byFrequency	TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:152732834C>T	ENST00000368773.1	+	2	828	c.770C>T	c.(769-771)cCt>cTt	p.P257L	KPRP_ENST00000606109.1_Missense_Mutation_p.P257L	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	257	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGCCTTCCTCCTCCTCGG	0.607000													32	44					0	0	0.769981	0	0
LRRK2	120892	broad.mit.edu	37	12	40758787	40758787	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:40758787G>A	ENST00000298910.7	+	49	7383	c.7325G>A	c.(7324-7326)cGt>cAt	p.R2442H		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2442					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTTCAACTCGTCGACTTATA	0.398000											OREG0003828	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	26	42					0	0	0.681144	0	0
MYH10	4628	broad.mit.edu	37	17	8411915	8411915	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:8411915G>A	ENST00000360416.3	-	26	3309	c.3171C>T	c.(3169-3171)gcC>gcT	p.A1057A	MYH10_ENST00000396239.1_Silent_p.A1047A|MYH10_ENST00000379980.4_Silent_p.A1042A|MYH10_ENST00000269243.4_Silent_p.A1026A	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1026					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTGATTTTGGCCAAGTTTT	0.413000													69	124					0	0	0.870114	0	0
MCF2L	23263	broad.mit.edu	37	13	113730378	113730378	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr13:113730378C>T	ENST00000397030.1	+	12	1543	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	MCF2L_ENST00000423482.2_Silent_p.I467I|MCF2L_ENST00000375601.3_Silent_p.I473I|MCF2L_ENST00000442652.2_Silent_p.I499I|MCF2L_ENST00000434480.2_Silent_p.I475I|MCF2L_ENST00000421756.1_Silent_p.I473I|MCF2L_ENST00000375604.2_Silent_p.I526I|MCF2L_ENST00000535094.2_Silent_p.I469I|MCF2L_ENST00000375597.4_Silent_p.I467I|MCF2L_ENST00000375608.3_Silent_p.I499I			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	499					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCAGGAAATCGAGAAGTTTT	0.522000													16	34					0	0	0.500413	0	0
C1orf173	127254	broad.mit.edu	37	1	75038685	75038685	+	Silent	SNP	C	C	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:75038685C>A	ENST00000326665.5	-	14	2927	c.2709G>T	c.(2707-2709)gtG>gtT	p.V903V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	903	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATTTGCAAGCACTGCCTTCT	0.532000													78	171					1.07134e-49	1.18851e-49	0.870114	1	0
KCTD3	51133	broad.mit.edu	37	1	215775237	215775237	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:215775237A>G	ENST00000259154.4	+	11	1256	c.962A>G	c.(961-963)tAt>tGt	p.Y321C		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	321						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATAACTAGTTATGACACTGCT	0.323000													17	31					0	0	0.592651	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215869	8215869	+	Missense_Mutation	SNP	C	C	A	rs147736312		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:8215869C>A	ENST00000361926.3	+	2	622	c.512C>A	c.(511-513)cCg>cAg	p.P171Q	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P171Q	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	171					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCAGATGCCCCGGAGCCAGGT	0.642000													20	44					6.21321e-17	6.68391e-17	0.639603	1	0
OPRM1	4988	broad.mit.edu	37	6	154412611	154412611	+	Missense_Mutation	SNP	C	C	T	rs79668187		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr6:154412611C>T	ENST00000428397.2	+	3	1364	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000229768.5_Intron|OPRM1_ENST00000414028.2_Intron|OPRM1_ENST00000452687.2_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000524163.1_Intron|OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000419506.2_Intron|OPRM1_ENST00000360422.4_Intron|OPRM1_ENST00000435918.2_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000434900.2_Intron|OPRM1_ENST00000330432.7_Intron	NM_001008504.2	NP_001008504.2	P35372	OPRM_HUMAN	opioid receptor, mu 1	390					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.?(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCATCAGGTACGCAGTCTCTA	0.408000													8	20					0	0	0.307466	0	0
MOCOS	55034	broad.mit.edu	37	18	33780032	33780032	+	Missense_Mutation	SNP	C	C	T	rs141623345		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr18:33780032C>T	ENST00000261326.5	+	4	707	c.686C>T	c.(685-687)aCg>aTg	p.T229M		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	229					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CCTGTGAGCACGCCTGGGAAG	0.567000													24	60					0	0	0.654019	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543481	141543481	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr4:141543481C>T	ENST00000442267.2	-	21	3743	c.3669G>A	c.(3667-3669)gaG>gaA	p.E1223E		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1223						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCAGGGCAGGCTCAGTTAAGA	0.627000													9	14					0	0	0.361761	0	0
ZNF665	79788	broad.mit.edu	37	19	53668506	53668506	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:53668506G>C	ENST00000600412.1	-	2	1157	c.1042C>G	c.(1042-1044)Cag>Gag	p.Q348E	ZNF665_ENST00000396424.3_Missense_Mutation_p.Q413E			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q413*(1)|p.Q348*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGTGAATACTGAGTGAAAACC	0.408000													17	30					0	0	0.575678	0	0
TRPV5	56302	broad.mit.edu	37	7	142605866	142605866	+	Silent	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:142605866G>T	ENST00000265310.1	-	15	2352	c.2004C>A	c.(2002-2004)ccC>ccA	p.P668P		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	668					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGCCCCAGAGGGCTGTTTCT	0.567000													18	30					2.35188e-11	2.51103e-11	0.539581	1	0
ASAP1	50807	broad.mit.edu	37	8	131172152	131172152	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:131172152T>C	ENST00000357668.1	-	11	995	c.968A>G	c.(967-969)tAt>tGt	p.Y323C	ASAP1_ENST00000518721.1_Missense_Mutation_p.Y323C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	323					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTCACTGCCATATTCCTTATT	0.438000													168	123					0	0	0.870114	0	0
ZNF302	55900	broad.mit.edu	37	19	35175210	35175210	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:35175210G>A	ENST00000505242.1	+	5	762	c.268G>A	c.(268-270)Gat>Aat	p.D90N	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000507959.1_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.D90N|ZNF302_ENST00000446502.2_Missense_Mutation_p.D134N|ZNF302_ENST00000423823.2_Missense_Mutation_p.D90N|ZNF302_ENST00000509528.1_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGATATTTATGATGAAGATTC	0.294000													20	32					0	0	0.608945	0	0
C5AR2	27202	broad.mit.edu	37	19	47844487	47844487	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:47844487C>T	ENST00000595464.1	+	2	649	c.431C>T	c.(430-432)aCg>aTg	p.T144M	C5AR2_ENST00000600626.1_Missense_Mutation_p.T144M|C5AR2_ENST00000257267.2_Missense_Mutation_p.T144M	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		TGGTGGTCTACGGTTCAGCGG	0.677000													34	71					0	0	0.779181	0	0
KIF1B	23095	broad.mit.edu	37	1	10356659	10356659	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:10356659C>T	ENST00000377086.1	+	20	1999	c.1797C>T	c.(1795-1797)ccC>ccT	p.P599P	KIF1B_ENST00000377093.4_Silent_p.P553P|KIF1B_ENST00000377083.1_Silent_p.P553P|KIF1B_ENST00000377081.1_Silent_p.P599P|KIF1B_ENST00000263934.6_Silent_p.P553P			O60333	KIF1B_HUMAN	kinesin family member 1B	599	FHA.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCTTAGAGCCCTGTGAGCGCT	0.443000													17	19					0	0	0.575678	0	0
CNTN5	53942	broad.mit.edu	37	11	100141898	100141898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:100141898C>T	ENST00000524871.1	+	18	2529	c.2239C>T	c.(2239-2241)Cga>Tga	p.R747*	CNTN5_ENST00000528682.1_Nonsense_Mutation_p.R747*|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Nonsense_Mutation_p.R747*|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.R673*|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.R747*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	747	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATATGAATTTCGAGTGGTAGC	0.458000													10	30					0	0	0.361761	0	0
FBN2	2201	broad.mit.edu	37	5	127595365	127595365	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:127595365C>T	ENST00000508053.1	-	71	9495	c.8521G>A	c.(8521-8523)Gat>Aat	p.D2841N	FBN2_ENST00000262464.4_Missense_Mutation_p.D2841N			P35556	FBN2_HUMAN	fibrillin 2	2841					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACGCTGTCATCGTTCCCTTGA	0.547000													34	105					0	0	0.788014	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634428	122634428	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr3:122634428G>A	ENST00000195173.4	-	14	2150	c.1847C>T	c.(1846-1848)tCa>tTa	p.S616L	SEMA5B_ENST00000357599.3_Missense_Mutation_p.S616L|SEMA5B_ENST00000451055.2_Missense_Mutation_p.S670L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	616					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TTGCCATGGTGACCATGGGCC	0.587000													13	52					0	0	0.457914	0	0
AKAP6	9472	broad.mit.edu	37	14	33291093	33291093	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:33291093G>C	ENST00000280979.4	+	13	4244	c.4074G>C	c.(4072-4074)caG>caC	p.Q1358H	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1358					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACATGAGCCAGAATTCAGGCA	0.458000													14	46					0	0	0.500413	0	0
AVPR1A	552	broad.mit.edu	37	12	63544545	63544545	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:63544545G>A	ENST00000299178.2	-	1	177	c.72C>T	c.(70-72)ggC>ggT	p.G24G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	24					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGTTGCCAGCGCCGGTGGCCA	0.711000													15	28					0	0	0.457914	0	0
MDGA2	161357	broad.mit.edu	37	14	47601019	47601019	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr14:47601019G>T	ENST00000439988.2	-	5	615	c.616C>A	c.(616-618)Ctt>Att	p.L206I	MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000399232.2_Missense_Mutation_p.L275I|MDGA2_ENST00000426342.1_5'UTR			Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	206	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGAGGTCGAAGATTCTTTAGT	0.338000													13	19					1.61879e-10	1.70273e-10	0.411799	1	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363306	21363306	+	RNA	SNP	G	G	A	rs2075274	by1000genomes	TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:21363306G>A	ENST00000452284.1	+	0	973				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						GATGACCAGGGCGTAGGTGGC	0.582000													4	77					0	0	0.150653	0	0
OTOP2	92736	broad.mit.edu	37	17	72923778	72923778	+	Silent	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:72923778A>T	ENST00000331427.4	+	5	620	c.528A>T	c.(526-528)acA>acT	p.T176T	OTOP2_ENST00000580223.1_Silent_p.T176T	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	176						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TCATGTTCACACTCACCACCA	0.582000													21	45					0	0	0.624587	0	0
OR1C1	26188	broad.mit.edu	37	1	247921166	247921166	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:247921166G>A	ENST00000408896.2	-	1	816	c.543C>T	c.(541-543)ctC>ctT	p.L181L		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGAGAGGATTGAGATCACAGA	0.478000													8	12					0	0	0.307466	0	0
SLC2A13	114134	broad.mit.edu	37	12	40158310	40158310	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr12:40158310G>A	ENST00000280871.4	-	9	1722	c.1672C>T	c.(1672-1674)Ctg>Ttg	p.L558L		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	558						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				AGTGAAACCAGGACATTGAAA	0.328000										HNSCC(50;0.14)			26	63					0	0	0.693898	0	0
METTL16	79066	broad.mit.edu	37	17	2318695	2318695	+	RNA	SNP	G	G	A	rs4790335	by1000genomes	TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:2318695G>A	ENST00000571332.1	-	0	684					NR_028335.1																						AGCAACACACGACATGCATGG	0.463000													5	77					0	0	0.184627	0	0
UROS	7390	broad.mit.edu	37	10	127496033	127496033	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:127496033C>T	ENST00000368778.3	-	6	536	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	UROS_ENST00000368786.1_Missense_Mutation_p.E115K|UROS_ENST00000368797.4_Missense_Mutation_p.E115K|UROS_ENST00000368774.1_Missense_Mutation_p.E115K|UROS_ENST00000462490.1_5'UTR			P10746	HEM4_HUMAN	uroporphyrinogen III synthase	115					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GTTTCTCCTTCTGTATCCAGG	0.353000													14	43					0	0	0.539581	0	0
CSPG4	1464	broad.mit.edu	37	15	75974679	75974679	+	Silent	SNP	C	C	T	rs145039359		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr15:75974679C>T	ENST00000308508.5	-	8	4997	c.4905G>A	c.(4903-4905)caG>caA	p.Q1635Q		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1635	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGCTGTCCTGCTGGGCGTGGA	0.677000													27	54					0	0	0.681144	0	0
ANLN	54443	broad.mit.edu	37	7	36456706	36456706	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:36456706A>C	ENST00000265748.2	+	9	1761	c.1540A>C	c.(1540-1542)Atg>Ctg	p.M514L	ANLN_ENST00000396068.2_Intron|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	514	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGAATGCGAAATGACGAAATC	0.294000													20	23					0	0	0.624587	0	0
LARGE	9215	broad.mit.edu	37	22	33670599	33670599	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:33670599G>A	ENST00000354992.2	-	16	2656	c.2085C>T	c.(2083-2085)ttC>ttT	p.F695F	LARGE_ENST00000452586.2_Silent_p.F494F|LARGE_ENST00000437602.2_Silent_p.F646F|LARGE_ENST00000337431.2_Silent_p.F643F|LARGE_ENST00000402320.1_Silent_p.F643F|LARGE_ENST00000397394.2_Silent_p.F695F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	695					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCAGCACAATGAACTCATACT	0.507000											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	26					0	0	0.693898	0	0
TMEM245	23731	broad.mit.edu	37	9	111853316	111853316	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr9:111853316G>A	ENST00000374586.3	-	5	1067	c.1036C>T	c.(1036-1038)Ctt>Ttt	p.L346F		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	346						integral to membrane											TTCTTTCTAAGAAACGTTCCT	0.507000													13	127					0	0	0.435327	0	0
MUC7	4589	broad.mit.edu	37	4	71346725	71346725	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr4:71346725C>T	ENST00000413702.1	+	4	552	c.264C>T	c.(262-264)caC>caT	p.H88H	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.H88H|MUC7_ENST00000304887.5_Silent_p.H88H	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	88						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CAAATCCTCACCAGCCACCTA	0.458000													29	65					0	0	0.693898	0	0
KIAA0556	23247	broad.mit.edu	37	16	27761517	27761517	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr16:27761517A>G	ENST00000261588.4	+	16	3255	c.3236A>G	c.(3235-3237)aAt>aGt	p.N1079S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1079										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGAACTACAATAAATCTCGG	0.527000													28	48					0	0	0.717897	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216430	149216430	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:149216430C>T	ENST00000309241.5	+	8	2444	c.2412C>T	c.(2410-2412)ttC>ttT	p.F804F	PPARGC1B_ENST00000394320.3_Silent_p.F804F|PPARGC1B_ENST00000403750.1_Silent_p.F740F|PPARGC1B_ENST00000360453.4_Silent_p.F765F	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	804	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGAGCAGCTTCCTCCCAgagg	0.607000													122	24					0	0	0.870114	0	0
ASB1	51665	broad.mit.edu	37	2	239342262	239342262	+	Silent	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:239342262G>A	ENST00000264607.4	+	2	364	c.117G>A	c.(115-117)acG>acA	p.T39T	ASB1_ENST00000409297.1_Silent_p.T39T|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	39					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GTGAGGACACGAGGCTCCATG	0.587000													10	22					0	0	0.335167	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140857271	140857271	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:140857271C>T	ENST00000308177.3	+	1	1692	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1												p.R530R(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGAGGATCGGCGGGAATT	0.493000													17	51					0	0	0.520397	0	0
NBPF12	149013	broad.mit.edu	37	1	146466080	146466080	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:146466080C>G	ENST00000442909.2	+	82	10791	c.9955C>G	c.(9955-9957)Ctc>Gtc	p.L3319V	NBPF12_ENST00000309471.8_3'UTR|NBPF12_ENST00000446760.2_3'UTR					neuroblastoma breakpoint family, member 12											ovary(2)	2						GGTGACAAGTCTCCACCTGGT	0.468000													4	79					0	0	0.150653	0	0
KMT2E	55904	broad.mit.edu	37	7	104753061	104753061	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr7:104753061C>G	ENST00000334877.4	+	26	5266	c.4732C>G	c.(4732-4734)Caa>Gaa	p.Q1578E	KMT2E_ENST00000257745.4_Missense_Mutation_p.Q1620E|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.Q1620E					lysine (K)-specific methyltransferase 2E																		CATTCACCATCAAACTGCTGC	0.552000													38	82					0	0	0.847076	0	0
SPATA6	54558	broad.mit.edu	37	1	48869550	48869550	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:48869550T>C	ENST00000371847.3	-	6	574	c.410A>G	c.(409-411)aAt>aGt	p.N137S	SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Missense_Mutation_p.N65S|SPATA6_ENST00000371843.3_Missense_Mutation_p.N137S	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	137					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCTTGGAGCATTTCCCTGAGA	0.313000													7	19					0	0	0.307466	0	0
OR8K3	219473	broad.mit.edu	37	11	56085986	56085986	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr11:56085986C>T	ENST00000312711.1	+	1	204	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATCTGGCTTTCATGGATCTTG	0.383000													43	87					0	0	0.853193	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128977612	128977612	+	Silent	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:128977612C>T	ENST00000274487.4	+	11	1958	c.1813C>T	c.(1813-1815)Cta>Tta	p.L605L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	605	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAGAACCAAGCTAGACCCACC	0.398000													19	75					0	0	0.624587	0	0
HUWE1	10075	broad.mit.edu	37	X	53571556	53571556	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chrX:53571556C>T	ENST00000342160.3	-	71	11673	c.11216G>A	c.(11215-11217)cGg>cAg	p.R3739Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R3739Q|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3739					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTTGTTAGCCCGGCGCGTGTC	0.537000													16	5					0	0	0.520397	0	0
TTN	7273	broad.mit.edu	37	2	179588170	179588170	+	Silent	SNP	A	A	T			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr2:179588170A>T	ENST00000589042.1	-	74	21881	c.21657T>A	c.(21655-21657)tcT>tcA	p.S7219S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.S6902S|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S5975S|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6902	Ig-like 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTAGTGCAAGATGCTTGGC	0.403000													9	17					0	0	0.335167	0	0
FBLN1	2192	broad.mit.edu	37	22	45937151	45937151	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:45937151G>A	ENST00000348697.2	+	9	1112	c.965G>A	c.(964-966)gGg>gAg	p.G322E	FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.G322E|FBLN1_ENST00000402984.3_Missense_Mutation_p.G360E|FBLN1_ENST00000340923.5_Missense_Mutation_p.G322E|FBLN1_ENST00000442170.2_Missense_Mutation_p.G322E|FBLN1_ENST00000327858.6_Missense_Mutation_p.G322E			P23142	FBLN1_HUMAN	fibulin 1	322	EGF-like 4; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCCCTATCGGGCATACATGC	0.542000													22	50					0	0	0.639603	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995819	19995819	+	Silent	SNP	T	T	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr18:19995819T>C	ENST00000391403.2	-	1	2059	c.1956A>G	c.(1954-1956)gaA>gaG	p.E652E		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	652						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTGCTTCATTTTCAGCGGGGA	0.438000													70	164					0	0	0.870114	0	0
ZNF70	7621	broad.mit.edu	37	22	24086332	24086332	+	Silent	SNP	G	G	A	rs141862105		TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr22:24086332G>A	ENST00000341976.3	-	2	1456	c.996C>T	c.(994-996)ggC>ggT	p.G332G		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	332						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGGCTTCTCGCCAGTGTGGG	0.567000													19	41					0	0	0.592651	0	0
ZNF883	169834	broad.mit.edu	37	9	115759580	115759580	+	RNA	SNP	G	G	C			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr9:115759580G>C	ENST00000427548.1	-	0	2233							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TACACTGGTAGGGTTTCTCTC	0.388000													18	170					0	0	0.539581	0	0
CAPNS1	826	broad.mit.edu	37	19	36633613	36633613	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr19:36633613C>A	ENST00000246533.3	+	4	901	c.303C>A	c.(301-303)ttC>ttA	p.F101L	CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588780.1_Missense_Mutation_p.F101L|CAPNS1_ENST00000588815.1_Missense_Mutation_p.F101L|CAPNS1_ENST00000590874.1_Intron|CAPNS1_ENST00000587718.1_Missense_Mutation_p.F101L	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	101	EF-hand 1; atypical.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCGGCAGTTCCGGAGACTCT	0.612000													45	94					2.77807e-22	3.03451e-22	0.864702	1	0
EVI5	7813	broad.mit.edu	37	1	93202126	93202127	+	In_Frame_Ins	INS	-	-	TGT			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr1:93202126_93202127insTGT	ENST00000370331.1	-	2	118_119	c.109_110insACA	c.(109-111)agt>ACAagt	p.37_38insT	EVI5_ENST00000540033.1_In_Frame_Ins_p.37_38insT|EVI5_ENST00000543509.1_In_Frame_Ins_p.37_38insT	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	37	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ATGCGATACTGTGTTCTTCACC	0.436													56	123	---	---	---	---					
GUSBP1	728411	broad.mit.edu	37	5	21491295	21491301	+	RNA	DEL	AAAAAAA	AAAAAAA	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr5:21491295_21491301delAAAAAAA	ENST00000607545.1	+	0	179					NR_027026.1																						attctatctcaaaaaaaaaaaaaaaaa	0.473													2	4	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)cat>ca	p.HH207del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			4	6	---	---	---	---					
SUPV3L1	6832	broad.mit.edu	37	10	70940081	70940081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:70940081delC	ENST00000359655.4	+	1	94	c.34delC	c.(34-36)tcfs	p.L12fs	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	12					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGGCTCGGCTCCCGGCGGG	0.687													22	29	---	---	---	---					
TIAL1	7073	broad.mit.edu	37	10	121341997	121341998	+	In_Frame_Ins	INS	-	-	AGCAGCTAATGC			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:121341997_121341998insAGCAGCTAATGC	ENST00000369093.2	-	3	281_282	c.252_253insGCATTAGCTGCT	c.(250-255)gctgaa>gcGCATTAGCTGCTtgaa	p.84_85AE>AH*LLE	TIAL1_ENST00000436547.2_In_Frame_Ins_p.67_68AE>AH*LLE|TIAL1_ENST00000369092.4_5'UTR	NM_001033925.1	NP_001029097.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	67	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CTCCCATTCATAGCAGCTAATG	0.371													11	184	---	---	---	---					
INPP5F	22876	broad.mit.edu	37	10	121563719	121563721	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr10:121563719_121563721delAGA	ENST00000361976.2	+	10	1317_1319	c.1151_1153delAGA	c.(1150-1155)gag>g	p.EK384del		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	384	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GCAGGAAGAGAGAAGATTATTGG	0.360													40	90	---	---	---	---					
NPLOC4	55666	broad.mit.edu	37	17	79532588	79532588	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr17:79532588delC	ENST00000374747.5	-	16	1741	c.1612delG	c.(1612-1614)agfs	p.E538fs	NPLOC4_ENST00000539314.1_Frame_Shift_Del_p.E377fs|NPLOC4_ENST00000331134.6_Frame_Shift_Del_p.E538fs|NPLOC4_ENST00000573876.1_Frame_Shift_Del_p.R2fs|NPLOC4_ENST00000572760.1_Frame_Shift_Del_p.R2fs			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	538					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGGCGAGCTCCTCATTTCTG	0.622													2	4	---	---	---	---					
DSG1	1828	broad.mit.edu	37	18	28919849	28919849	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr18:28919849delT	ENST00000257192.4	+	11	1760	c.1548delT	c.(1546-1548)gafs	p.D516fs		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	516					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTAACTATGATACCAGCACAA	0.398													48	107	---	---	---	---					
ESF1	51575	broad.mit.edu	37	20	13763275	13763275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-7832-01A-11D-2129-08	TCGA-HD-7832-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374f3e37-87e5-4450-a89f-0bde3981a31e	d6b68a0c-89b9-4474-8579-8c65728b9b06	g.chr20:13763275delT	ENST00000202816.1	-	2	619	c.512delA	c.(511-513)acfs	p.N171fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		p.N171fs*18(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTGAACAATGTTTTTTTTCTC	0.318													9	25	---	---	---	---