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
GLB1L3	112937	broad.mit.edu	37	11	134179592	134179592	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:134179592C>G	uc009zdf.3	+	10	1394	c.1034C>G	c.(1033-1035)aCc>aGc	p.T345S	GLB1L3_uc010scu.1_Missense_Mutation_p.T46S|GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	345					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CATGGTGGAACCAACTTTGGT	0.468000													5	4					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152226673	152226673	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:152226673G>A	uc022cho.1	+	0	1261	c.1261G>A	c.(1261-1263)Ggc>Agc	p.G421S	PNMA3_uc004fhc.2_Missense_Mutation_p.G421S|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	421					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGAAGACGGCCACATCAG	0.572000													74	114					0	0	1	0	0
WASH6P	653440	broad.mit.edu	37	X	155254735	155254735	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:155254735C>G	uc022cip.1	+	5	835	c.631C>G	c.(631-633)Ctc>Gtc	p.L211V						RecName: Full=WAS protein family homolog 6; AltName: Full=Protein FAM39A;									p.L425V(1)									GATGTCGGATCTCTTCAACAA	0.587000													3	7					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			24	4					0	0	1	0	0
WASH2P	375260	broad.mit.edu	37	2	114355129	114355129	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:114355129G>A	uc002tkh.3	+	3	564	c.506G>A	c.(505-507)cGc>cAc	p.R169H	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript|WASH2P_uc010fkz.1_Non-coding_Transcript|WASH2P_uc002tkf.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		GAGTCCATCCGCCAAGCTGGG	0.657000													6	15					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858535	149858535	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:149858535G>A	uc001etd.3	+	0	11	c.11G>A	c.(10-12)cGt>cAt	p.R4H	HIST2H2BE_uc001etc.3_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	Homo sapiens histone cluster 2, H2ac (HIST2H2AC), mRNA.	4					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ATGTCTGGTCGTGGCAAACAA	0.542000													39	80					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			13	19					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6230661	6230661	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr19:6230661C>T	uc002mek.3	-	3	504	c.340G>A	c.(340-342)Gtg>Atg	p.V114M		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	114					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	p.V114M(2)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGGTGGTTCACGGGCGGGTTG	0.612000			T	MLL	AL								109	17					0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16317206	16317206	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr19:16317206A>G	uc002ndv.2	+	2	427	c.254A>G	c.(253-255)tAt>tGt	p.Y85C	AP1M1_uc002ndu.2_Missense_Mutation_p.Y85C|AP1M1_uc010xpd.1_Missense_Mutation_p.Y85C	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	85					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCTTTCCTCTATAAGGTGGTG	0.592000													5	210					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158140122	158140122	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:158140122C>T	uc010jip.3	-	12	1527	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	EBF1_uc011ddw.2_Missense_Mutation_p.E277K|EBF1_uc011ddx.2_Missense_Mutation_p.E410K|EBF1_uc003lxl.4_Missense_Mutation_p.E378K	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	409					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACAGGGCCTCGGCAATGTCG	0.522000			T	HMGA2	lipoma								7	34					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49434535	49434535	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:49434535G>A	uc001rta.4	-	30	7018	c.7018C>T	c.(7018-7020)Ccc>Tcc	p.P2340S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2340	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.L2340P(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGCTCTGGGGCTCTACCTGA	0.632000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			15	19					0	0	1	0	0
C1QL2	165257	broad.mit.edu	37	2	119914536	119914536	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:119914536G>T	uc002tlo.2	-	1	1332	c.706C>A	c.(706-708)Cag>Aag	p.Q236K		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA.	236	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TCGGCGTCCTGTGCAATGGCG	0.642000										HNSCC(49;0.14)			70	81					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145109631	145109631	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:145109631A>C	uc001eml.1	+	3	430	c.290A>C	c.(289-291)cAg>cCg	p.Q97P	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA.	98	Longin.				ER to Golgi vesicle-mediated transport|protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome	protein binding										TTTGATGAACAGCATGGAAAG	0.438000													47	431					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858537	149858537	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:149858537G>T	uc001etd.3	+	0	13	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	HIST2H2BE_uc001etc.3_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	Homo sapiens histone cluster 2, H2ac (HIST2H2AC), mRNA.	5					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G5D(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTCTGGTCGTGGCAAACAAGG	0.547000													42	78					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124402320	124402320	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:124402320T>A	uc001uft.4	+	62	10863	c.10838T>A	c.(10837-10839)cTg>cAg	p.L3613Q		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3613	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AATGTGGACCTGGTGCACACC	0.607000													4	2					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414330	68414330	+	RNA	SNP	T	T	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr9:68414330T>C	uc004aex.3	+	0		c.885T>C								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		atgattaagcttagtgaagat	0.428000													3	12					0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67193233	67193233	+	Silent	SNP	T	T	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:67193233T>C	uc010dfa.1	-	11	2085	c.1206A>G	c.(1204-1206)ggA>ggG	p.G402G	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_3'UTR	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	402	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCCAGTCTTTCCATTATATT	0.388000													4	8					0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35278356	35278356	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:35278356C>T	uc003okk.3	+	2	397	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	DEF6_uc010jvs.3_Missense_Mutation_p.R120C|DEF6_uc010jvt.3_5'UTR	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	120						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGATGCCTTCCGCCTCTGGTG	0.532000													34	54					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:153249384C>T	uc003ims.3	-	8	1556	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	FBXW7_uc011cii.2_Missense_Mutation_p.R465H|FBXW7_uc003imt.3_Missense_Mutation_p.R465H|FBXW7_uc011cih.2_Missense_Mutation_p.R289H|FBXW7_uc003imq.3_Missense_Mutation_p.R385H|FBXW7_uc003imr.3_Missense_Mutation_p.R347H	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R465H(125)|p.R465C(69)|p.R385H(16)|p.R226H(16)|p.R465L(8)|p.R465Y(4)|p.R347H(4)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								16	48					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670683	134670683	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:134670683C>A	uc003eqt.3	+	2	969	c.594C>A	c.(592-594)agC>agA	p.S198R	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	198	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.P197P(1)		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						AGTGTCCCAGCATTGTGCAAA	0.483000													71	77					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745609	37745609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr9:37745609C>T	uc004aag.1	+	15	3624	c.3580C>T	c.(3580-3582)Cag>Tag	p.Q1194*	FRMPD1_uc004aah.1_Nonsense_Mutation_p.Q1194*	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1194						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCAAGGCTGCCAGGCTCAAGA	0.522000													22	66					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65352023	65352023	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:65352023C>T	uc001dbu.1	-	2	173	c.-76_splice	c.e2-1		JAK1_uc009wam.1_Splice_Site	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.						interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TTCAGAGAAGCGCTAAAGACA	0.373000			Mis		ALL								5	2					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73661200	73661200	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:73661200G>A	uc010dgl.3	-	2	392	c.183C>T	c.(181-183)tgC>tgT	p.C61C	RECQL5_uc010dgk.3_Intron|RECQL5_uc002joz.4_Silent_p.C61C|RECQL5_uc002jpa.4_Silent_p.C61C|RECQL5_uc002jpb.2_Silent_p.C61C	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	61	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGAGCTGATAGCATAGGGATT	0.473000								Other identified genes with known or suspected DNA repair function					84	95					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54853210	54853210	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:54853210G>A	uc002rxu.3	+	11	1732	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	SPTBN1_uc002rxv.1_Missense_Mutation_p.D495N|SPTBN1_uc002rxx.3_Missense_Mutation_p.D482N	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	495					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAATTACCACGACATCAAGCG	0.577000													76	101					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237391	140237391	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:140237391G>A	uc003lhx.2	+	0	1758	c.1758G>A	c.(1756-1758)gcG>gcA	p.A586A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.A586A	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	600					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGGTTGCGGGTCACGTGG	0.662000													61	53					0	0	1	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225539	26225539	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:26225539C>T	uc003nhb.2	+	1	517	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	HIST1H3E_uc003nhc.4_Missense_Mutation_p.R53C	NM_021018	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.	53					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GCGCGAGATCCGTCGCTACCA	0.627000													49	60					0	0	1	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49032106	49032106	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:49032106G>T	uc004dmy.1	-	8	1790	c.1764C>A	c.(1762-1764)ttC>ttA	p.F588L	PRICKLE3_uc011mmv.1_Missense_Mutation_p.F520L|PRICKLE3_uc011mmw.1_Missense_Mutation_p.F507L|PRICKLE3_uc011mmx.1_Missense_Mutation_p.F550L	NM_006150	NP_006141	O43900	PRIC3_HUMAN	Homo sapiens prickle homolog 3 (Drosophila) (PRICKLE3), mRNA.	588							protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						ATGGGGAGTTGAAGGTCTCCA	0.592000													166	293					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414371	68414371	+	RNA	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr9:68414371C>T	uc004aex.3	+	0		c.926C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		gagaagtcaacacttggcttc	0.418000													3	12					0	0	1	0	0
BC073927	0	broad.mit.edu	37	11	71513938	71513938	+	RNA	SNP	T	T	A	rs139766133	by1000genomes	TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:71513938T>A	uc001oqx.1	-	2		c.662A>T								Homo sapiens cDNA clone IMAGE:5297769.																		GGCAAACAGCTCCTGAACATG	0.582000													4	20					0	0	1	0	0
UBXN1	51035	broad.mit.edu	37	11	62445085	62445085	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:62445085G>C	uc001nuj.3	-	6	688	c.556C>G	c.(556-558)Cag>Gag	p.Q186E	UBXN1_uc001nul.2_Missense_Mutation_p.Q186E|UBXN1_uc001nuk.3_3'UTR|UBXN1_uc010rme.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	Homo sapiens UBX domain protein 1 (UBXN1), mRNA.	186	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GGGGGTGGCTGAGAGCCCACA	0.547000													43	48					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858536	149858536	+	Silent	SNP	T	T	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:149858536T>G	uc001etd.3	+	0	12	c.12T>G	c.(10-12)cgT>cgG	p.R4R	HIST2H2BE_uc001etc.3_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	Homo sapiens histone cluster 2, H2ac (HIST2H2AC), mRNA.	4					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGTCTGGTCGTGGCAAACAAG	0.547000													40	80					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511937	195511937	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:195511937C>T	uc021xjp.1	-	1	6670	c.6514G>A	c.(6514-6516)Ggt>Agt	p.G2172S	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	951					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.577000													5	7					0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44048891	44048891	+	Silent	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr15:44048891C>T	uc001zsu.3	+	2	439	c.291C>T	c.(289-291)gtC>gtT	p.V97V	PDIA3_uc010bdp.3_Silent_p.V77V|PDIA3_uc010ued.2_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	97	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AATATGGAGTCAGTGGATATC	0.393000													22	36					0	0	1	0	0
BAK1	578	broad.mit.edu	37	6	33541652	33541652	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:33541652G>A	uc003oes.3	-	5	864	c.564C>T	c.(562-564)atC>atT	p.I188I	BAK1_uc003oer.3_Silent_p.I118I|BAK1_uc003oet.3_Non-coding_Transcript|BAK1_uc010jvb.3_Silent_p.I188I|BAK1_uc003oeu.3_Silent_p.I129I	NM_001188	NP_001179	Q16611	BAK_HUMAN	Homo sapiens BCL2-antagonist/killer 1 (BAK1), mRNA.	188					activation of pro-apoptotic gene products|cellular response to UV|cellular response to mechanical stimulus|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCACGTTCAGGATGGGACCAT	0.567000													31	29					0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52454935	52454935	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:52454935C>T	uc003ddy.3	+	6	1236	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	PHF7_uc003ddz.3_Missense_Mutation_p.H144Y	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	144						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TTGTGACAAACATCGCCCAAC	0.488000													46	10					0	0	1	0	0
GINS2	51659	broad.mit.edu	37	16	85721095	85721095	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:85721095C>T	uc002fja.3	-	1	260	c.176G>A	c.(175-177)cGc>cAc	p.R59H	GINS2_uc002fjb.2_Missense_Mutation_p.R59H	NM_016095	NP_057179	Q9Y248	PSF2_HUMAN	Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA.	59					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding	p.R59C(1)		endometrium(2)|large_intestine(2)|lung(2)	6						AGGGAGCAGGCGACATTTCTG	0.577000													43	39					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998971	173998971	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:173998971A>T	uc021xhm.1	+	6	2790	c.2470A>T	c.(2470-2472)Att>Ttt	p.I824F	NLGN1_uc003fio.1_Missense_Mutation_p.I784F|NLGN1_uc003fip.1_Missense_Mutation_p.I784F	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	801					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CATTACAATGATTCCCAACAC	0.493000													10	77					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70314570	70314570	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr13:70314570C>A	uc001vip.3	-	7	2552	c.1758G>T	c.(1756-1758)atG>atT	p.M586I	KLHL1_uc010thm.2_Missense_Mutation_p.M525I	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	586					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.S585C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GAGCAATTGACATACTGGCTA	0.393000													5	20					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6700659	6700659	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:6700659G>A	uc001qpo.3	-	21	3477	c.3313C>T	c.(3313-3315)Cgg>Tgg	p.R1105W	CHD4_uc001qpn.3_Missense_Mutation_p.R1098W|CHD4_uc001qpp.3_Missense_Mutation_p.R1102W	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1105	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.R1105W(1)		central_nervous_system(2)	2						GCCTCTTGCCGCATGTTCCCA	0.433000													31	37					0	0	1	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49032095	49032095	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:49032095G>T	uc004dmy.1	-	8	1801	c.1775C>A	c.(1774-1776)tCt>tAt	p.S592Y	PRICKLE3_uc011mmv.1_Missense_Mutation_p.S524Y|PRICKLE3_uc011mmw.1_Missense_Mutation_p.S511Y|PRICKLE3_uc011mmx.1_Missense_Mutation_p.S554Y	NM_006150	NP_006141	O43900	PRIC3_HUMAN	Homo sapiens prickle homolog 3 (Drosophila) (PRICKLE3), mRNA.	592							protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						GAGCGATAAAGATGGGGAGTT	0.612000													159	272					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr9:20414343A>G	uc003zoe.2	-	4	760	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(38)|p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								5	81					0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989122	125989122	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr8:125989122T>G	uc003yrr.3	+	2	767	c.612T>G	c.(610-612)atT>atG	p.I204M		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCCATCTTATTATCCATGAGA	0.473000										HNSCC(60;0.17)			9	92					0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113736846	113736846	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:113736846G>T	uc002tio.1	+	2	173	c.104G>T	c.(103-105)tGg>tTg	p.W35L	IL36G_uc010fkr.1_Intron	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	35					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGCAAGTGTGGACCCTTCAG	0.448000													18	33					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124386977	124386977	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr7:124386977G>A	uc003vli.3	-	1	2095	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	482						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAATCTGCCGTTTATTCCCT	0.428000													29	31					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86887422	86887422	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:86887422C>T	uc004efa.2	+	6	1719	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	KLHL4_uc004efb.2_Missense_Mutation_p.R513W	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	513						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTCAACACATCGGCACGGCTT	0.368000													6	18					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1544439	1544439	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:1544439G>A	uc002cly.3	+	1	448	c.157G>A	c.(157-159)Gag>Aag	p.E53K	TELO2_uc010uvg.1_Missense_Mutation_p.E53K	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	53						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGAGAAGGAGGAGTTTGCCTC	0.647000											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	64					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62237128	62237128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:62237128C>T	uc001dab.3	+	5	664	c.550C>T	c.(550-552)Caa>Taa	p.Q184*	INADL_uc009waf.1_Nonsense_Mutation_p.Q184*|INADL_uc001daa.2_Nonsense_Mutation_p.Q184*|INADL_uc001dad.3_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	184	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGAAAATGATCAAATATTGGC	0.308000													8	8					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68854003	68854003	+	Silent	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:68854003C>T	uc001oos.2	+	22	2132	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	TPCN2_uc010rqg.1_Intron|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	672					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTCCAAGATCTATTTTGTAT	0.547000													32	8					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186263243	186263243	+	Silent	SNP	T	T	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:186263243T>C	uc003ixh.3	+	11	1857	c.1668T>C	c.(1666-1668)ttT>ttC	p.F556F	SNX25_uc010ish.3_Silent_p.F327F|SNX25_uc003ixi.3_Silent_p.F60F	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	Homo sapiens sorting nexin 25 (SNX25), mRNA.	556	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TCAGCGAGTTTCAGAATTTAC	0.413000													5	74					0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100169415	100169415	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:100169415T>A	uc004egn.2	-	2	1867	c.1262A>T	c.(1261-1263)cAt>cTt	p.H421L	XKRX_uc011mre.1_Missense_Mutation_p.H217L	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	421						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GCAGACACAATGGAGGTAGTC	0.458000													4	193					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113697868	113697868	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr8:113697868G>A	uc003ynu.3	-	14	2408	c.2249C>T	c.(2248-2250)aCg>aTg	p.T750M	CSMD3_uc003yns.3_Missense_Mutation_p.T22M|CSMD3_uc003ynt.3_Missense_Mutation_p.T710M|CSMD3_uc011lhx.2_Missense_Mutation_p.T646M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	750	CUB 4.					integral to membrane|plasma membrane		p.T750T(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAGATTATCGTCCAGATGCA	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			36	47					0	0	1	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62329741	62329741	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr20:62329741G>A	uc002yfy.3	+	6	1356	c.728G>A	c.(727-729)gGt>gAt	p.G243D	RTEL1_uc002yfw.3_Non-coding_Transcript|TNFRSF6B_uc002yfz.3_Missense_Mutation_p.G243D	NM_003823	NP_003814	O95407	TNF6B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), mRNA.	243					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GAGGGCTGGGGTCCGACACCA	0.706000													12	8					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579349	82579349	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr7:82579349G>C	uc003uhx.2	-	5	10844	c.10555C>G	c.(10555-10557)Caa>Gaa	p.Q3519E	PCLO_uc003uhv.2_Missense_Mutation_p.Q3519E|PCLO_uc010lec.3_Missense_Mutation_p.Q484E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3450					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTACCGTTTGAACTGCTATG	0.458000													16	26					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14817512	14817512	+	Silent	SNP	T	T	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr19:14817512T>A	uc002mzn.3	+	6	572	c.438T>A	c.(436-438)gcT>gcA	p.A146A	ZNF333_uc002mzk.4_Silent_p.A37A|ZNF333_uc010dzr.1_Non-coding_Transcript	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGAAGGCCGCTATGCAGATTC	0.572000													38	7					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	82					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443187	150443187	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:150443187A>G	uc009wlr.3	+	10	1964	c.1763A>G	c.(1762-1764)aAa>aGa	p.K588R	RPRD2_uc010pcc.1_Missense_Mutation_p.K562R|RPRD2_uc001eup.4_Missense_Mutation_p.K562R	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	588	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTATTCCCAAAAGCTTCAAC	0.502000													14	29					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76756943	76756943	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr18:76756943G>A	uc002lmt.3	+	2	3524	c.3524G>A	c.(3523-3525)cGc>cAc	p.R1175H	SALL3_uc010dra.3_Missense_Mutation_p.R710H	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1175					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)		CGCGGCCGCCGCCTGTCTGTG	0.612000													14	17					0	0	1	0	0
LY6G5B	58496	broad.mit.edu	37	6	31639652	31639652	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:31639652C>T	uc003nvt.1	+	2	199	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C		NM_021221	NP_067044	Q8NDX9	LY65B_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G5B (LY6G5B), mRNA.	67	UPAR/Ly6.					extracellular region				lung(4)	4						TGTCAAGGTTCGCTTCATCGT	0.507000													31	45					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142523431	142523431	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:142523431C>T	uc003evc.3	+	11	2249	c.2113C>T	c.(2113-2115)Cat>Tat	p.H705Y	TRPC1_uc003evb.3_Missense_Mutation_p.H671Y	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	705					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GATTTGCTCTCATACATCAAA	0.363000													11	60					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr18:14513764C>T	uc010dln.3	-	9	1884	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	477								p.R477Q(24)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													3	35					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr20:29625956G>A	uc010ztl.1	+	1	142	c.110G>A	c.(109-111)aGa>aAa	p.R37K	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338000													4	39					0	0	1	0	0
CR936796	0	broad.mit.edu	37	1	143162350	143162350	+	RNA	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:143162350G>A	uc001ejf.1	+	1		c.527G>A			CR936796_uc001eiw.1_Intron					Homo sapiens PNAS-130 mRNA, complete cds.																		taaaacttcagaaaaggagtt	0.443000													5	3					0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70187809	70187809	+	Missense_Mutation	SNP	G	G	A	rs140244507		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:70187809G>A	uc002sfz.4	-	0	1589	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	338					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGCTCCTGCCGCCCTTCTTCT	0.557000													34	49					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66725099	66725099	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:66725099C>T	uc001sti.2	+	11	2864	c.2836C>T	c.(2836-2838)Cgt>Tgt	p.R946C	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	946					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAGAAAAACTCGTTTGAAACA	0.527000													9	50					0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54333359	54333359	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:54333359G>C	uc001sei.3	+	0	784	c.669G>C	c.(667-669)tgG>tgC	p.W223C		NM_017410	NP_059106	P31276	HXC13_HUMAN	Homo sapiens homeobox C13 (HOXC13), mRNA.	223						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						CCAATGGCTGGGACAGTCAGG	0.682000			T	NUP98	AML								11	24					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186121933	186121933	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:186121933C>T	uc001grq.1	+	95	15177	c.14948C>T	c.(14947-14949)tCt>tTt	p.S4983F	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.S552F	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4983	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCGATGGTTCTTTGCTGCTA	0.428000													16	72					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92905543	92905543	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr7:92905543C>T	uc003umo.3	+	11	996	c.868C>T	c.(868-870)Ctt>Ttt	p.L290F	CCDC132_uc003ump.3_Missense_Mutation_p.L260F|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Missense_Mutation_p.L290F	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	290										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAAGTTGTTCTTGGTTATGT	0.373000													23	42					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992232	72992232	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:72992232G>T	uc002fck.3	-	1	2486	c.1813C>A	c.(1813-1815)Cca>Aca	p.P605T	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	605					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTTCATTTGGTTCTGGTGCT	0.602000													15	41					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88677691	88677691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:88677691C>T	uc010voz.2	+	8	1494	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	ZC3H18_uc021tmm.1_Intron|ZC3H18_uc010voy.1_Nonsense_Mutation_p.R291*|ZC3H18_uc002fky.3_Nonsense_Mutation_p.R408*|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	408						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ggagcgggagcgagagagaga	0.642000													15	10					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084295	26084295	+	Missense_Mutation	SNP	C	C	T	rs76611503	by1000genomes	TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr20:26084295C>T	uc002wvj.4	-	1	176	c.121G>A	c.(121-123)Gga>Aga	p.G41R						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.									p.G41R(1)									TGTTTGCCTCCAAATGCTGGA	0.373000													3	29					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1906908	1906908	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:1906908C>T	uc002qxe.3	-	13	2803	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	MYT1L_uc002qxd.3_Missense_Mutation_p.R657Q|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	659					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGCTATGGCTCGCTTGCCATA	0.488000													4	49					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133834153	133834153	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:133834153A>G	uc011ecs.2	+	15	1812	c.1496A>G	c.(1495-1497)aAc>aGc	p.N499S	EYA4_uc011ecq.2_Missense_Mutation_p.N439S|EYA4_uc011ecr.2_Missense_Mutation_p.N445S|EYA4_uc003qec.4_Missense_Mutation_p.N493S|EYA4_uc003qed.4_Missense_Mutation_p.N493S|EYA4_uc003qee.4_Missense_Mutation_p.N470S|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	493					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GAATTATATAACACCTACAAG	0.388000													16	20					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800731	93800731	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:93800731A>T	uc001pep.2	+	4	1035	c.878A>T	c.(877-879)cAc>cTc	p.H293L	AF086184_uc001pen.1_Non-coding_Transcript	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	293	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.S292T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTGTCCTGGCACCTATTTGGA	0.468000													53	11					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16900019	16900019	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:16900019G>A	uc003goz.3	-	0	406	c.90C>T	c.(88-90)taC>taT	p.Y30Y	LDB2_uc003gpa.3_Silent_p.Y30Y|LDB2_uc011bxh.2_Silent_p.Y30Y|LDB2_uc003gpb.3_Silent_p.Y30Y|LDB2_uc010iee.3_Silent_p.Y30Y	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	30							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CATAGATTCGGTACTCTGGCT	0.453000													5	35					0	0	1	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49033341	49033341	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:49033341G>T	uc004dmy.1	-	7	1192	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	PRICKLE3_uc011mmv.1_Missense_Mutation_p.A321D|PRICKLE3_uc011mmw.1_Missense_Mutation_p.A308D|PRICKLE3_uc011mmx.1_Missense_Mutation_p.A351D	NM_006150	NP_006141	O43900	PRIC3_HUMAN	Homo sapiens prickle homolog 3 (Drosophila) (PRICKLE3), mRNA.	389				Missing (in Ref. 5; AAB92357).			protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TGCAAGTGGGGCTGTGACAGG	0.647000													54	76					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62259445	62259445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:62259445C>T	uc003dlb.3	+	22	4110	c.3391C>T	c.(3391-3393)Cag>Tag	p.Q1131*	PTPRG_uc003dlc.3_Nonsense_Mutation_p.Q1102*|PTPRG_uc011bfi.2_Nonsense_Mutation_p.Q377*|LOC100506994_uc003dld.4_Intron|LOC100506994_uc010hnp.3_Intron|LOC100506994_uc003dle.4_Intron|LOC100506994_uc010hno.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	1131					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATCTTCAAATCAGCTGCACAG	0.413000													27	9					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964455	32964455	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:32964455G>A	uc002hif.3	+	9	2487	c.2159G>A	c.(2158-2160)cGg>cAg	p.R720Q		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	720						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTGGGCCTGCGGGTGCACTTT	0.682000													33	5					0	0	1	0	0
LSG1	55341	broad.mit.edu	37	3	194386954	194386954	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:194386954C>G	uc003fui.3	-	3	727	c.412G>C	c.(412-414)Gaa>Caa	p.E138Q		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	138					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CGTCTCCATTCTAGAAAGTTA	0.373000													13	36					0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46759228	46759229	+	In_Frame_Ins	INS	-	-	AGC	rs143449678	by1000genomes	TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:46759228_46759229insAGC	uc003cqe.1	-	0	568_569	c.86_87insGCT	c.(85-87)ctt>ctGCTt	p.29_29L>LL	PRSS50_uc021wxe.1_In_Frame_Ins_p.29_29L>LL|PRSS50_uc003cqf.2_Intron	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	29					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.L32_R33insL(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCAGCAACAGAAGCAGCAGCAG	0.728													7	3	---	---	---	---					
TRIM2	23321	broad.mit.edu	37	4	154237041	154237042	+	In_Frame_Ins	INS	-	-	GGCAGCTGC			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:154237041_154237042insGGCAGCTGC	uc003inh.2	+	7	1757_1758	c.1672_1673insGGCAGCTGC	c.(1672-1674)ggg>gGGCAGCTGCgg	p.558_559insQLR	TRIM2_uc003ing.2_In_Frame_Ins_p.531_532insQLR	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	531						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		ACGCTCTCCGGGGCAGCTGCAG	0.470													11	49	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67592085	67592086	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:67592085_67592086insT	uc003jva.3	+	14	2481_2482	c.1901_1902insT	c.(1900-1902)gctfs	p.A634fs	PIK3R1_uc003jvc.3_Frame_Shift_Ins_p.A334fs|PIK3R1_uc003jvd.3_Frame_Shift_Ins_p.A364fs|PIK3R1_uc003jve.3_Frame_Shift_Ins_p.A313fs|PIK3R1_uc021xzn.1_Frame_Shift_Ins_p.A271fs	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	634	SH2 2.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)|p.A634P(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGAAACAAAGCTGAAAACCTGT	0.485			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			45	40	---	---	---	---					
CNOT6	57472	broad.mit.edu	37	5	179998267	179998268	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:179998267_179998268delAA	uc003mlx.3	+	10	1645_1646	c.1296_1297delAA	c.(1294-1299)acaaatfs	p.T432fs	CNOT6_uc010jld.3_Frame_Shift_Del_p.T432fs|CNOT6_uc010jle.3_Frame_Shift_Del_p.T427fs	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	432					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GAGTAGAAACAAATCACAAAGA	0.332													25	23	---	---	---	---					
GATA6	2627	broad.mit.edu	37	18	19756993	19756993	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr18:19756993delG	uc002ktt.1	+	2	1478	c.1213delG	c.(1213-1215)ggcfs	p.G405fs	GATA6_uc002ktu.1_Frame_Shift_Del_p.G405fs	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	405					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCGGCGGGACGGCACCGGCCA	0.682													2	4	---	---	---	---					
