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
AZI1	22994	broad.mit.edu	37	17	79193819	79193819	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr17:79193819C>T	ENST00000269392.4	-	2	285	c.38G>A	c.(37-39)cGc>cAc	p.R13H	AZI1_ENST00000450824.2_Missense_Mutation_p.R13H|AZI1_ENST00000374782.3_Missense_Mutation_p.R13H|AZI1_ENST00000575907.1_Missense_Mutation_p.R13H	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	13					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCTGGGCTGCGCTCCGGGAC	0.662000													5	93					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18755102	18755102	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:18755102C>T	ENST00000396170.1	-	10	2249		c.e10+1		RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Splice_Site|PTPN5_ENST00000396167.2_Splice_Site|PTPN5_ENST00000396171.4_Splice_Site|PTPN5_ENST00000477854.1_Splice_Site|PTPN5_ENST00000358540.2_Splice_Site	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGAATACGTACCCGGATGTAG	0.592000													35	56					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	41					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111631214	111631214	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:111631214G>A	ENST00000435970.1	-	32	9466	c.8650C>T	c.(8650-8652)Ctt>Ttt	p.L2884F	REV3L_ENST00000462119.1_5'UTR|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000358835.3_Missense_Mutation_p.L2962F|REV3L_ENST00000368805.1_Missense_Mutation_p.L2962F|REV3L_ENST00000368802.3_Missense_Mutation_p.L2962F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2962					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGCTGGATAAGTGGTACTCCG	0.512000								DNA polymerases (catalytic subunits)					27	66					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103498922	103498922	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:103498922C>T	ENST00000372588.4	-	2	502	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	140					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGGCGGCGGCGTTTCCTCTC	0.632000													21	75					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													4	42					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													5	45					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10715751	10715751	+	Silent	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:10715751G>A	ENST00000377022.3	-	9	1937	c.1620C>T	c.(1618-1620)caC>caT	p.H540H	CASZ1_ENST00000344008.5_Silent_p.H540H	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTGGCAGCCGTGGTAGTAGA	0.637000													14	22					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100348502	100348502	+	RNA	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:100348502C>T	ENST00000542585.1	+	0	1652				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCCTCAGGACACCAACAGCC	0.647000													20	27					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92472717	92472717	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:92472717C>A	ENST00000267622.4	-	11	1976	c.1603G>T	c.(1603-1605)Gat>Tat	p.D535Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	535					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCATTTAGATCTTGTTTCAGT	0.303000			T	PDGFRB	AML								5	25					1.23904e-05	1.25601e-05	1	1	0
OR8A1	390275	broad.mit.edu	37	11	124440650	124440650	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:124440650C>A	ENST00000284287.3	+	1	758	c.686C>A	c.(685-687)aCa>aAa	p.T229K		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		ACGAGCTTAACAGTTCTTGTT	0.498000													20	42					1.56452e-12	1.63063e-12	1	1	0
MAP7	9053	broad.mit.edu	37	6	136710584	136710584	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:136710584G>A	ENST00000354570.3	-	4	726	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	MAP7_ENST00000544465.1_Missense_Mutation_p.R91W|MAP7_ENST00000454590.1_Missense_Mutation_p.R128W|MAP7_ENST00000438100.2_Missense_Mutation_p.R128W|MAP7_ENST00000432797.2_5'UTR	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	106					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCTTCTTCCGCTCTTCCAGG	0.527000													43	77					0	0	1	0	0
PCDHGB3	0	broad.mit.edu	37	5	140751623	140751623	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr5:140751623C>T	ENST00000576222.1	+	1	1793	c.1662C>T	c.(1660-1662)gaC>gaT	p.D554D	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGACGACCGCAACGACA	0.667000													21	55					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73731941	73731941	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:73731941G>A	ENST00000223398.6	+	2	392	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	CLIP2_ENST00000395060.1_Missense_Mutation_p.R22Q|CLIP2_ENST00000361545.5_Missense_Mutation_p.R22Q	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	22						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCATGGGCCGGACATCTACT	0.672000													75	100					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022239	6022239	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:6022239G>A	ENST00000378858.4	-	5	1876	c.1652C>T	c.(1651-1653)cCc>cTc	p.P551L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	551						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GTGCTTGCAGGGATGGTAATC	0.662000													46	136					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5428407	5428407	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:5428407G>A	ENST00000341928.2	-	9	1310	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	EPB41L3_ENST00000540638.2_Missense_Mutation_p.R324C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R324C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R324C|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R324C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	324	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGCCGGTCGCGATATATCAAC	0.413000													38	89					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391968	117391968	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:117391968G>A	ENST00000321322.6	-	6	1271	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R154C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	364	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGAGCCCGCGGATGGAGATG	0.652000													58	108					0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107236410	107236410	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:107236410G>C	ENST00000392837.4	+	5	1031	c.880G>C	c.(880-882)Gat>Cat	p.D294H	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.D254H|RIC8B_ENST00000392839.2_Missense_Mutation_p.D294H			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	294					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CTCTTGTTTGGATGTTCTCAT	0.348000													10	35					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66081728	66081728	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:66081728G>A	ENST00000349533.6	+	15	2218	c.2033G>A	c.(2032-2034)aGa>aAa	p.R678K	LEPR_ENST00000371060.3_Missense_Mutation_p.R678K|LEPR_ENST00000344610.8_Missense_Mutation_p.R678K|LEPR_ENST00000371059.3_Missense_Mutation_p.R678K|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.R678K	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	678	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGTGTTCAGAGATATGTGATA	0.393000													23	44					0	0	1	0	0
AP5M1	55745	broad.mit.edu	37	14	57736076	57736076	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:57736076C>A	ENST00000261558.3	+	1	450	c.44C>A	c.(43-45)aCt>aAt	p.T15N	AP5M1_ENST00000431972.2_Missense_Mutation_p.T15N	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	15					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											GAACCGGGAACTCCACTTTGT	0.488000													10	73					2.80697e-09	2.88495e-09	1	1	0
MEN1	0	broad.mit.edu	37	11	64572230	64572230	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:64572230G>A	ENST00000337652.1	-	10	1927	c.1424C>T	c.(1423-1425)cCg>cTg	p.P475L	MEN1_ENST00000443283.1_Missense_Mutation_p.P475L|MEN1_ENST00000377321.1_Missense_Mutation_p.P435L|MEN1_ENST00000377313.1_Missense_Mutation_p.P475L|MEN1_ENST00000377316.2_Missense_Mutation_p.P415L|MEN1_ENST00000394374.2_Missense_Mutation_p.P475L|MEN1_ENST00000312049.6_Missense_Mutation_p.P470L|MEN1_ENST00000394376.1_Missense_Mutation_p.P475L|MEN1_ENST00000315422.4_Missense_Mutation_p.P470L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Missense_Mutation_p.P470L	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	475					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CTCGCCCCACGGCTCCTCGGC	0.731000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				20	56					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784834	32784834	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr9:32784834A>G	ENST00000342743.5	+	2	1018	c.653A>G	c.(652-654)tAc>tGc	p.Y218C		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	218						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TATGACAGATACTGTTGTTAT	0.478000													15	55					0	0	1	0	0
HLA-V	0	broad.mit.edu	37	6	29760284	29760284	+	RNA	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:29760284C>T	ENST00000457107.1	+	0	154																											GCTTCCTCTCCGTGGGCGACG	0.706000													4	10					0	0	1	0	0
PCDHA3	0	broad.mit.edu	37	5	140183011	140183011	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr5:140183011C>T	ENST00000522353.2	+	1	2229	c.2229C>T	c.(2227-2229)agC>agT	p.S743S	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1												p.S743S(4)|p.S743R(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.637000													52	106					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31							gamma-glutamyltransferase activity	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622000													5	102					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400511	78400511	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:78400511G>A	ENST00000397909.2	+	8	1366	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	NAV3_ENST00000228327.6_Missense_Mutation_p.R398H|NAV3_ENST00000536525.2_Missense_Mutation_p.R398H|NAV3_ENST00000266692.7_Missense_Mutation_p.R398H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAG	0.498000										HNSCC(70;0.22)			38	59					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113803456	113803456	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr13:113803456C>T	ENST00000375559.3	+	8	1130	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	364	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGCGGCTTCGGGCGCACCC	0.647000													30	21					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67433758	67433758	+	Nonsense_Mutation	SNP	A	A	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:67433758A>C	ENST00000355520.5	-	7	1184	c.543T>G	c.(541-543)taT>taG	p.Y181*	OPHN1_ENST00000540071.1_Nonsense_Mutation_p.Y181*	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	181					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTTGATAAACATAATCAAGAG	0.363000													3	5					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137424	40137424	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:40137424G>A	ENST00000278198.2	-	2	2382	c.419C>T	c.(418-420)cCg>cTg	p.P140L	LRRC4C_ENST00000530763.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P140L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	140					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGCTCCATTCGGGATGGTAGT	0.423000													12	29					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144892705	144892705	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr8:144892705G>A	ENST00000356994.2	-	13	1480	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	SCRIB_ENST00000320476.3_Missense_Mutation_p.R492W|SCRIB_ENST00000377533.3_Missense_Mutation_p.R411W	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	492	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCCTCGCTCCGCCGCCCCTCG	0.682000													19	148					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7845380	7845380	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:7845380C>T	ENST00000283147.6	+	2	831	c.672C>T	c.(670-672)taC>taT	p.Y224Y		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	224					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TAGTGGAGTACGACAAGGAGT	0.478000													37	52					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094403	150094403	+	Silent	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:150094403G>A	ENST00000329630.5	+	3	941	c.834G>A	c.(832-834)ccG>ccA	p.P278P		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		cgggcgagccgcgccAGTTCA	0.741000													14	25					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324283	31324283	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:31324283G>A	ENST00000269197.5	+	12	4471	c.4471G>A	c.(4471-4473)Gtt>Att	p.V1491I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GACTGTCTCCGTTGAAAGCTC	0.557000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	53					0	0	1	0	0
FTL	2512	broad.mit.edu	37	19	49469955	49469955	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:49469955A>C	ENST00000331825.6	+	4	698	c.491A>C	c.(490-492)gAg>gCg	p.E164A		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	164					cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GGGCTGGGCGAGTATCTCTTC	0.552000													9	83					0	0	1	0	0
AC093838.4	0	broad.mit.edu	37	2	132266164	132266164	+	RNA	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr2:132266164C>T	ENST00000438378.2	+	0	1217					NR_026922.1																						TCAAAAAATGCAGTCCCCTCA	0.453000													19	23					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|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; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		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.E545K(881)|p.E545Q(18)		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)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	18					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Missense_Mutation	SNP	C	C	G	rs121913292		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr10:89692904C>G	ENST00000371953.3	+	5	1745	c.388C>G	c.(388-390)Cga>Gga	p.R130G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403000	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			29	36					0	0	1	0	0
LINC00854	0	broad.mit.edu	37	17	41382190	41382190	+	RNA	SNP	G	G	C	rs2356314		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr17:41382190G>C	ENST00000433702.2	-	0	14					NR_047479.1																						aacaactgctgcaagaggggc	0.532000													12	27					0	0	1	0	0
AC093642.5	0	broad.mit.edu	37	2	243056818	243056818	+	RNA	SNP	C	C	T	rs140719525	by1000genomes	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr2:243056818C>T	ENST00000456398.1	+	0	339																											TGGAGAAATACTCAATAATGA	0.269000													3	24					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52858518	52858518	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:52858518C>T	ENST00000266041.4	-	8	1036	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.V314I|ITIH4_ENST00000485816.1_Missense_Mutation_p.V314I|ITIH4_ENST00000434759.3_Missense_Mutation_p.V226I|ITIH4_ENST00000346281.5_Missense_Mutation_p.V314I	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	314	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GTACTGAAGACGATGAGGTTG	0.572000													14	71					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													5	79					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30034018	30034018	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:30034018C>T	ENST00000328224.6	-	2	1441	c.208G>A	c.(208-210)Gcc>Acc	p.A70T		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	70						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GAGGTACAGGCCCCGCGTGAC	0.662000													13	66					0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515410	56515410	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:56515410C>T	ENST00000257940.2	+	3	1340	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	355	Pro-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CCACCCCCACCCCCACACTTG	0.627000													25	46					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754280	76754280	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:76754280C>T	ENST00000536229.3	+	1	2599	c.1890C>T	c.(1888-1890)ggC>ggT	p.G630G	SALL3_ENST00000537592.2_Silent_p.G763G|SALL3_ENST00000575389.2_Silent_p.G763G			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGCACATGGGCGGCCAGATCC	0.652000													24	40					0	0	1	0	0
ESPNP	0	broad.mit.edu	37	1	17023110	17023110	+	RNA	SNP	G	G	A	rs11260887	by1000genomes	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:17023110G>A	ENST00000492551.1	-	0	1753					NR_026567.1																						GTTGAGCAGCGGCTGAAACCC	0.687000													5	21					0	0	1	0	0
UGT1A6	0	broad.mit.edu	37	2	234601884	234601884	+	Nonsense_Mutation	SNP	T	T	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr2:234601884T>G	ENST00000305139.6	+	1	373	c.234T>G	c.(232-234)taT>taG	p.Y78*	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GAAAAATCTATCCAGTGCCGT	0.423000													29	49					0	0	1	0	0
MBIP	51562	broad.mit.edu	37	14	36780847	36780847	+	Missense_Mutation	SNP	C	C	T	rs140089260		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:36780847C>T	ENST00000416007.4	-	6	809	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	MBIP_ENST00000318473.7_Missense_Mutation_p.R241Q|MBIP_ENST00000359527.7_Missense_Mutation_p.R241Q|MBIP_ENST00000603913.1_5'UTR	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	241	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		ACCACAGTCTCGAAGCATGCT	0.428000													11	25					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33572744	33572744	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:33572744C>T	ENST00000262873.7	+	10	954	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	246	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TAACTCCTCCCGCTTTGTGAG	0.652000													31	65					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57871401	57871401	+	Silent	SNP	G	G	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:57871401G>T	ENST00000393797.2	-	7	1002	c.810C>A	c.(808-810)cgC>cgA	p.R270R	ARHGAP9_ENST00000356411.2_Silent_p.R199R|ARHGAP9_ENST00000424809.2_Silent_p.R199R|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000550288.1_Silent_p.R278R|ARHGAP9_ENST00000393791.3_Silent_p.R199R|ARHGAP9_ENST00000430041.2_Silent_p.R15R			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	199					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ACCGAGGACAGCGGCGAAGGT	0.647000													23	55					3.5997e-14	3.8054e-14	1	1	0
ILF3	3609	broad.mit.edu	37	19	10781723	10781723	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:10781723A>T	ENST00000449870.1	+	3	394	c.77A>T	c.(76-78)gAg>gTg	p.E26V	ILF3_ENST00000420083.1_Missense_Mutation_p.E26V|ILF3_ENST00000318511.3_Missense_Mutation_p.E26V|ILF3_ENST00000407004.3_Missense_Mutation_p.E26V|ILF3_ENST00000592763.1_Missense_Mutation_p.E26V|ILF3_ENST00000589998.1_Missense_Mutation_p.E26V|ILF3_ENST00000250241.8_Missense_Mutation_p.E26V|ILF3_ENST00000590261.1_Missense_Mutation_p.E26V|ILF3_ENST00000588657.1_Missense_Mutation_p.E26V	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	26					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCAACACAAGAGGAGCTGGAG	0.502000													7	22					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95718733	95718733	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:95718733C>T	ENST00000524717.1	-	4	3701	c.2417G>A	c.(2416-2418)aGa>aAa	p.R806K		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	806					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCCCACATTTCTTCTTTGGTC	0.323000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								5	15					0	0	1	0	0
HM13	81502	broad.mit.edu	37	20	30155955	30155955	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:30155955C>G	ENST00000335574.5	+	12	1233	c.1109C>G	c.(1108-1110)gCc>gGc	p.A370G	HM13_ENST00000398174.3_Missense_Mutation_p.A370G|HM13_ENST00000492709.1_Intron|HM13_ENST00000340852.5_Intron|HM13_ENST00000376127.3_Intron|HM13-AS1_ENST00000412178.1_RNA	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	366					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GGCTCCCCAGCCAGCCTGGCC	0.662000													4	37					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122599593	122599593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:122599593G>A	ENST00000264357.5	+	14	2685	c.2393G>A	c.(2392-2394)tGg>tAg	p.W798*	GRIA3_ENST00000371251.1_Nonsense_Mutation_p.W798*|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000542149.1_Nonsense_Mutation_p.W798*	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	798					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AAAAACAAATGGTGGTACGAC	0.458000													16	36					0	0	1	0	0
RP11-85G18.6	0	broad.mit.edu	37	10	27538420	27538420	+	RNA	SNP	G	G	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr10:27538420G>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							ACTGTGGCTTGAGTCAGGTTT	0.498000													71	77					0	0	1	0	0
SOX4	6659	broad.mit.edu	37	6	21596141	21596141	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:21596141C>G	ENST00000244745.1	+	1	2170	c.1376C>G	c.(1375-1377)tCg>tGg	p.S459W	SOX4_ENST00000543472.1_Missense_Mutation_p.S459W	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	459					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein 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			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GAGATGATCTCGGGAGACTGG	0.622000													4	16					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	15					0.115264	0.115264	1	1	0
EPHB1	2047	broad.mit.edu	37	3	134670597	134670597	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:134670597C>T	ENST00000398015.3	+	3	878	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	170						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCTCTTACTCGGAATGGTTT	0.463000													94	117					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88679256	88679256	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr15:88679256T>A	ENST00000394480.1	-	9	1102	c.781A>T	c.(781-783)Acc>Tcc	p.T261S	NTRK3_ENST00000557856.1_Missense_Mutation_p.T261S|NTRK3_ENST00000542733.2_Missense_Mutation_p.T163S|NTRK3_ENST00000355254.2_Missense_Mutation_p.T261S|NTRK3_ENST00000540489.2_Missense_Mutation_p.T261S|NTRK3_ENST00000317501.3_Missense_Mutation_p.T261S|NTRK3_ENST00000357724.2_Missense_Mutation_p.T261S|NTRK3_ENST00000360948.2_Missense_Mutation_p.T261S|NTRK3_ENST00000558676.1_Missense_Mutation_p.T261S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	261	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAACATTGGTCCAGTTCAGA	0.458000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			6	62					0	0	1	0	0
KCNJ9	3765	broad.mit.edu	37	1	160054319	160054319	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:160054319C>T	ENST00000368088.3	+	2	741	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	167					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCAACAAGCGCGCAGCCAC	0.652000													20	20					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134491532	134491532	+	Silent	SNP	G	G	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:134491532G>C	ENST00000367858.5	-	14	2052	c.1455C>G	c.(1453-1455)acC>acG	p.T485T	SGK1_ENST00000413996.3_Silent_p.T404T|SGK1_ENST00000367857.5_Silent_p.T380T|SGK1_ENST00000528577.1_Silent_p.T418T|SGK1_ENST00000237305.7_Silent_p.T390T|SGK1_ENST00000475719.2_Silent_p.T346T	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	390					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CAGGCTCTTCGGTAAACTCGG	0.557000													36	55					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22161368	22161368	+	Silent	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:22161368G>A	ENST00000374695.3	-	77	10603	c.10524C>T	c.(10522-10524)ttC>ttT	p.F3508F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3508	Ig-like C2-type 21.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCAGGCATTCGAACTCCACGG	0.637000													25	49					0	0	1	0	0
RP11-206L10.2	0	broad.mit.edu	37	1	706330	706331	+	RNA	INS	-	-	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:706330_706331insG	ENST00000428504.1	-	0	585					NR_033908.1																						CCACTGCCTGAGGGGGGGGAGG	0.609													4	2	---	---	---	---					
AGRN	375790	broad.mit.edu	37	1	985167	985168	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:985167_985168insC	ENST00000379370.2	+	26	4786_4787	c.4736_4737insC	c.(4735-4737)gcgfs	p.A1579fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1579	EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCCCGCCCGGCCGCGTCGGTG	0.752													9	21	---	---	---	---					
ESPNP	0	broad.mit.edu	37	1	17019526	17019526	+	RNA	DEL	G	G	-	rs67654214		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:17019526delG	ENST00000492551.1	-	0	1938					NR_026567.1																						AGCAGCTGCCGCAGCCGTTCG	0.766													4	2	---	---	---	---					
ESPNP	0	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													10	3	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27100182	27100184	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:27100182_27100184delGCA	ENST00000324856.7	+	16	4349_4351	c.3978_3980delGCA	c.(3976-3981)ccg>cc	p.PQ1326del	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del|ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1326					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1327*(1)|p.Q1334delQ(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTACCCCCCgcagcagcagcag	0.591			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	155	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145115028	145115028	+	RNA	DEL	T	T	-	rs139627460		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:145115028delT	ENST00000453618.1	+	0	820							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TTTACTTGCGTTTTTTTTTGT	0.284													2	4	---	---	---	---					
TMF1	7110	broad.mit.edu	37	3	69084233	69084237	+	Frame_Shift_Del	DEL	CTGTA	CTGTA	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:69084233_69084237delCTGTA	ENST00000543976.1	-	9	2436_2440	c.2190_2194delTACAG	c.(2188-2196)cgaafs	p.RTE730fs	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000398559.2_Frame_Shift_Del_p.RTE727fs|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	727					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GCCGCTTGTTCTGTACGCTGCAATG	0.434													8	132	---	---	---	---					
AF146191.4	0	broad.mit.edu	37	4	190767746	190767746	+	RNA	DEL	C	C	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr4:190767746delC	ENST00000511785.1	-	0	425																											attctccgtgccgtgtccctc	0.627													2	4	---	---	---	---					
RP11-423H2.3	0	broad.mit.edu	37	5	177388625	177388625	+	RNA	DEL	G	G	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr5:177388625delG	ENST00000507072.1	+	0	417				RP11-1252I4.2_ENST00000511650.1_RNA																							AGGAGGGAGCGTGGCAGAGGG	0.617													3	5	---	---	---	---					
DMWD	1762	broad.mit.edu	37	19	46289096	46289098	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:46289096_46289098delCCA	ENST00000270223.6	-	3	1701_1703	c.1656_1658delTGG	c.(1654-1659)ggc>gg	p.GG552del	AC011530.4_ENST00000593999.1_In_Frame_Del_p.VA47del|DMWD_ENST00000377735.3_In_Frame_Del_p.GG552del	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	552					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCCGCCACTGCCACCCCGGCTGA	0.719													28	37	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11071214	11071215	+	RNA	INS	-	-	C	rs113940337		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr21:11071214_11071215insC	ENST00000470054.1	-	0	324									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)		gcagaccaattagggcttcagg	0.406													4	3	---	---	---	---					
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													8	45	---	---	---	---					
