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
CLK2P	1197	broad.mit.edu	37	7	23624896	23624896	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:23624896G>A	uc003swk.2	-	0	1251	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		CGAACATAGCGTCCAGCTGAT	0.498000													58	125					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764257	77764257	+	Silent	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr8:77764257C>T	uc003yau.2	+	9	5487	c.5100C>T	c.(5098-5100)caC>caT	p.H1700H	ZFHX4_uc003yaw.1_Silent_p.H1655H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1655	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H1700H(3)|p.Q1699H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACTACAGCACGAATTACAAC	0.443000										HNSCC(33;0.089)			24	96					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99110202	99110202	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:99110202C>G	uc003uqv.3	+	2	665	c.541C>G	c.(541-543)Ctg>Gtg	p.L181V	ZKSCAN5_uc010lfx.3_Missense_Mutation_p.L181V|ZKSCAN5_uc003uqw.3_Missense_Mutation_p.L181V|ZKSCAN5_uc003uqx.3_Missense_Mutation_p.L181V|ZKSCAN5_uc003uqy.3_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	181					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L181V(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCCTCGTCTCCTGGAGGAAAA	0.587000													20	35					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37441066	37441066	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:37441066C>T	uc002rpz.3	-	9	2516	c.2486G>A	c.(2485-2487)cGg>cAg	p.R829Q		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	829					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.R829Q(2)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATCTGCATCCCGTTTTTGTTT	0.269000													9	42					0	0	1	0	0
LCE5A	254910	broad.mit.edu	37	1	152484310	152484310	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:152484310C>G	uc021oyx.1	+	0	300	c.300C>G	c.(298-300)agC>agG	p.S100R	LCE5A_uc001ezy.3_Missense_Mutation_p.S100R|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	100	Cys-rich.				keratinization			p.S100R(2)|p.S100N(1)		lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCTCCAGCTGCTGCCACA	0.682000													4	9					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24530760	24530760	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr14:24530760C>T	uc001wlj.2	+	26	2516	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	787								p.R787W(6)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGGCCATGCGGGTGGCCGA	0.612000													3	62					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141460073	141460073	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:141460073G>T	uc002tvj.1	-	37	7045	c.6073C>A	c.(6073-6075)Cgc>Agc	p.R2025S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2025					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R2025S(2)|p.R2025H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCCAAGCGAGCCTTTCCA	0.408000										TSP Lung(27;0.18)			51	86					0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35076446	35076446	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:35076446C>A	uc003zwb.1	-	7	1551	c.1059G>T	c.(1057-1059)agG>agT	p.R353S	FANCG_uc010mkj.1_Missense_Mutation_p.R95S|FANCG_uc011lot.1_Missense_Mutation_p.R353S	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	353					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	p.R353S(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTGTAGGCACCTGCTTGCTA	0.532000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					9	105					0	0	1	0	0
FGFR1OP2	26127	broad.mit.edu	37	12	27107226	27107226	+	Splice_Site	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:27107226G>T	uc001rhm.3	+	2	488	c.135_splice	c.e2+1	p.Q45_splice	FGFR1OP2_uc001rhl.3_Splice_Site_p.Q45_splice|FGFR1OP2_uc001rhn.3_Splice_Site_p.Q45_splice	NM_015633	NP_056448	Q9NVK5	FGOP2_HUMAN	Homo sapiens FGFR1 oncogene partner 2 (FGFR1OP2), transcript variant 1, mRNA.	45						cytoplasm		p.Q45H(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					CCATGAAACAGGTTTGATTTT	0.348000													3	65					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41739653	41739653	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:41739653A>T	uc003thq.3	-	0	555	c.320T>A	c.(319-321)aTt>aAt	p.I107N	INHBA-AS1_uc003tht.4_Intron|INHBA_uc003thr.3_Missense_Mutation_p.I107N|INHBA-AS1_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	107					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.I107N(2)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTCCTTCCAATGTCATCCTC	0.562000										TSP Lung(11;0.080)			19	758					0	0	1	0	0
LOC283683	283683	broad.mit.edu	37	15	23114213	23114213	+	RNA	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr15:23114213C>T	uc001yvf.2	-	1		c.218G>A								Homo sapiens uncharacterized LOC283683 (LOC283683), non-coding RNA.																		TTCAACCATTCGGTGTCAAGG	0.433000													4	58					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161139389	161139389	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr6:161139389G>A	uc003qtm.4	+	7	963	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	284	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.R284H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAAACTATCGCGGGAATGTG	0.493000													40	170					0	0	1	0	0
DPY19L2P3	442524	broad.mit.edu	37	7	29727194	29727194	+	RNA	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:29727194A>G	uc003tag.3	+	1		c.1012A>G			DPY19L2P3_uc003tai.3_Intron|LOC646762_uc003tad.4_5'Flank					Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 2, non-coding RNA.																		CTGTGTACTTACAAATTTGAG	0.289000													4	8					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76813087	76813087	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr4:76813087C>T	uc003hix.3	-	2	457	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.V34M	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	34	IQ.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.V34M(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGCGGGCCACGTAGCGCCGG	0.582000													22	79					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29354154	29354154	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:29354154C>T	uc002rmv.3	+	2	403	c.164C>T	c.(163-165)tCa>tTa	p.S55L	CLIP4_uc002rmu.3_Missense_Mutation_p.S55L|CLIP4_uc010ezm.1_Missense_Mutation_p.S55L|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.S37L	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	55								p.S55L(2)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AATGATGCATCATGCCAGGAA	0.274000													42	99					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99568295	99568295	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:99568295T>G	uc003dtm.3	-	4	2688	c.2225A>C	c.(2224-2226)gAt>gCt	p.D742A	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.D742A|FILIP1L_uc010hpf.3_Missense_Mutation_p.D318A|FILIP1L_uc010hpg.3_Missense_Mutation_p.D502A|FILIP1L_uc003dtn.3_Missense_Mutation_p.D502A|FILIP1L_uc021xbr.1_Missense_Mutation_p.D502A|FILIP1L_uc003dtp.1_Missense_Mutation_p.D502A	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	742						cytoplasm|membrane|myosin complex|nucleus		p.D742A(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GACTGAGTGATCTCCCTGGAG	0.408000													10	393					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271820	22271820	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr19:22271820T>G	uc010ecx.3	+	3	1437	c.1268T>G	c.(1267-1269)aTa>aGa	p.I423R	ZNF257_uc010ecy.3_Missense_Mutation_p.I391R	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I423R(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CAGCATAAGATAATTCATACT	0.383000													3	72					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3992020	3992020	+	Silent	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr17:3992020C>T	uc002fxe.3	-	12	2257	c.2193G>A	c.(2191-2193)acG>acA	p.T731T	ZZEF1_uc002fxk.1_Silent_p.T731T	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	731							calcium ion binding|zinc ion binding	p.T731T(2)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGAGGAGCAACGTGGCCCCAC	0.547000													8	57					0	0	1	0	0
SDF2L1	23753	broad.mit.edu	37	22	21997279	21997279	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr22:21997279C>T	uc002zvf.3	+	1	400	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F		NM_022044	NP_071327	Q9HCN8	SDF2L_HUMAN	Homo sapiens stromal cell-derived factor 2-like 1 (SDF2L1), mRNA.	106	MIR 2.					endoplasmic reticulum lumen|membrane		p.L106F(2)		prostate(1)	1	Colorectal(54;0.105)					GGCGGTGAGGCTCACGCATGT	0.706000											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47376266	47376266	+	Silent	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:47376266C>A	uc003crd.3	+	5	981	c.855C>A	c.(853-855)tcC>tcA	p.S285S	KLHL18_uc003crc.2_Silent_p.S285S|KLHL18_uc011bav.2_Silent_p.S173S|KLHL18_uc010hjq.2_Silent_p.S136S	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	285								p.S285S(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GCTGCACATCCATCGCTGGAC	0.582000													3	54					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38640517	38640517	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:38640517C>A	uc021wvo.1	-	11	1967	c.1915G>T	c.(1915-1917)Ggg>Tgg	p.G639W	SCN5A_uc021wvk.1_Missense_Mutation_p.G639W|SCN5A_uc021wvl.1_Missense_Mutation_p.G639W|SCN5A_uc021wvm.1_Missense_Mutation_p.G639W|SCN5A_uc021wvn.1_Missense_Mutation_p.G639W|SCN5A_uc021wvp.1_Missense_Mutation_p.G639W|SCN5A_uc021wvq.1_Missense_Mutation_p.G639W|SCN5A_uc021wvr.1_Missense_Mutation_p.G639W|SCN5A_uc021wvs.1_Missense_Mutation_p.G639W|SCN5A_uc021wvt.1_Missense_Mutation_p.G639W|SCN5A_uc021wvu.1_Missense_Mutation_p.G639W|SCN5A_uc021wvv.1_Missense_Mutation_p.G639W|SCN5A_uc021wvj.1_Missense_Mutation_p.G505W|SCN5A_uc021wvi.1_Missense_Mutation_p.G505W|SCN5A_uc021wvw.1_Missense_Mutation_p.G250W	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	639			G -> R (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.G639W(3)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATCTGGGGCCCGCCTGGCTCC	0.667000													3	60					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892213	9892213	+	Silent	SNP	G	G	T	rs148846694	byFrequency	TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr16:9892213G>T	uc010uym.2	-	11	2587	c.2277C>A	c.(2275-2277)acC>acA	p.T759T	GRIN2A_uc002czo.4_Silent_p.T759T|GRIN2A_uc010uyn.2_Silent_p.T602T|GRIN2A_uc002czr.4_Silent_p.T759T	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	759					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T759T(2)|p.T759N(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCCATAACCGGTGGTGGCAA	0.547000													3	86					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106889711	106889711	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:106889711G>A	uc004bbv.3	+	19	3028	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	SMC2_uc004bbw.3_Missense_Mutation_p.D914N|SMC2_uc011lvl.2_Missense_Mutation_p.D914N|SMC2_uc004bbx.3_Missense_Mutation_p.D914N|SMC2_uc004bby.3_Non-coding_Transcript	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	914					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	p.D914N(3)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAAGGAATTAGACCACAACAT	0.363000													53	82					0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117052139	117052139	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:117052139G>C	uc001pqg.2	+	1	232	c.191G>C	c.(190-192)gGc>gCc	p.G64A	SIDT2_uc010rxe.1_Missense_Mutation_p.G64A|SIDT2_uc001pqh.1_Missense_Mutation_p.G64A|SIDT2_uc001pqi.1_Missense_Mutation_p.G64A	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	64						integral to membrane|lysosomal membrane		p.G64A(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CAGACAGAGGGCGTGCGTGTG	0.597000											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	42					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131593399	131593399	+	Missense_Mutation	SNP	G	G	A	rs141128784		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:131593399G>A	uc010tbm.2	+	18	2673	c.2114G>A	c.(2113-2115)cGt>cAt	p.R705H	GPR133_uc001uit.4_Missense_Mutation_p.R673H|GPR133_uc009zyo.3_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.R192H|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	673					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W705C(1)|p.W705*(1)|p.R673H(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGCAAGCACCGTTACTACTat	0.607000													26	163					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44104090	44104090	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:44104090T>G	uc010qfc.2	+	2	247	c.53T>G	c.(52-54)gTg>gGg	p.V18G	ZNF485_uc010qfd.2_Intron	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V18G(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GATGTGGCTGTGGCCTTTACC	0.562000													11	17					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62378665	62378665	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:62378665G>A	uc010rly.1	-	2	654	c.346C>T	c.(346-348)Cct>Tct	p.P116S	EML3_uc001ntr.1_Missense_Mutation_p.P88S|EML3_uc001nts.1_Missense_Mutation_p.P88S|EML3_uc001ntt.1_Silent_p.S12S|EML3_uc001ntu.1_Missense_Mutation_p.P116S|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	116						cytoplasm|microtubule	protein binding	p.P116S(2)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTCCCGCTAGGCTCTTCGCTG	0.697000													4	30					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895345	42895345	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr4:42895345C>T	uc003gwt.3	+	0	63	c.62C>T	c.(61-63)gCg>gTg	p.A21V		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	21					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.A21V(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTCGGATCGCGTCCTCTCAC	0.507000													45	103					0	0	1	0	0
ENTPD7	57089	broad.mit.edu	37	10	101455823	101455823	+	Silent	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:101455823C>T	uc009xwl.3	+	9	1315	c.960C>T	c.(958-960)aaC>aaT	p.N320N	ENTPD7_uc001kqa.4_Silent_p.N318N	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7), mRNA.	318						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	p.N318N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TCGGAGGCAACTTTGCCCGGC	0.453000													11	169					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228155518	228155518	+	Silent	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:228155518C>A	uc002vom.2	+	36	3288	c.3126C>A	c.(3124-3126)ggC>ggA	p.G1042G	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1042	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G1042G(3)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGACCAGGCCTCCCAGGTA	0.488000													3	61					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr19:18001748C>T	uc002nhr.4	+	13	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	569					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.R569W(2)|p.A568T(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602000													76	154					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89690802	89690802	+	Splice_Site	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:89690802G>A	uc001kfb.3	+	4	1242	c.210_splice	c.e4-1	p.L70_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	70	Phosphatase tensin-type.		L -> P (in CD).		T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(9)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTCTTTTAGTTGTGCTGAA	0.303000		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)			32	23					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79343065	79343065	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr4:79343065C>T	uc003hlb.2	+	33	5029	c.4589C>T	c.(4588-4590)aCg>aTg	p.T1530M	FRAS1_uc003hkw.3_Missense_Mutation_p.T1530M|FRAS1_uc010ijj.2_Intron	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1529					cell communication	integral to membrane|plasma membrane	metal ion binding	p.T1530M(5)|p.T1530T(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGGTATTTCACGCAAGAGGAT	0.547000													93	226					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120615277	120615277	+	Silent	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:120615277G>A	uc001txo.3	-	8	824	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	271					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.L271L(2)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACTCCTCAGTAAGGACTTC	0.448000													19	66					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21971365	21971365	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr14:21971365A>C	uc001wbc.3	-	2	766	c.674T>G	c.(673-675)aTa>aGa	p.I225R	METTL3_uc001wbb.3_Missense_Mutation_p.I70R|METTL3_uc010tlw.1_Non-coding_Transcript|METTL3_uc010tlx.2_Missense_Mutation_p.I225R|METTL3_uc021rox.1_Missense_Mutation_p.I225R	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Homo sapiens methyltransferase like 3 (METTL3), mRNA.	225					gene expression	nuclear speck	RNA binding|mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	p.I225R(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AAGGCTCTCTATCTCCAGATC	0.443000													97	210					0	0	1	0	0
UBAC1	10422	broad.mit.edu	37	9	138837764	138837764	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:138837764G>C	uc004cgt.3	-	5	842	c.624C>G	c.(622-624)aaC>aaG	p.N208K		NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	Homo sapiens UBA domain containing 1 (UBAC1), mRNA.	208	UBA 1.					Golgi apparatus|plasma membrane	protein binding	p.N208K(2)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TGGTGGCTCTGTTCTCCGGAA	0.662000													14	46					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204304794	204304794	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:204304794A>G	uc002vad.3	-	13	3344	c.3119T>C	c.(3118-3120)gTt>gCt	p.V1040A		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	1040					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		p.V1040A(3)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTTGGAGAACTCCAGGAAG	0.537000													53	100					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57756742	57756742	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr16:57756742A>G	uc002emi.3	+	9	1486	c.1397A>G	c.(1396-1398)gAg>gGg	p.E466G	CCDC135_uc002emj.3_Missense_Mutation_p.E466G|CCDC135_uc002emk.3_Missense_Mutation_p.E401G	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	466						cytoplasm		p.E466G(2)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCACCTATGAGGACTTGCAG	0.597000													3	75					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48737263	48737263	+	Silent	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:48737263C>A	uc001rrn.2	-	6	1072	c.810G>T	c.(808-810)ggG>ggT	p.G270G	ZNF641_uc001rro.2_Silent_p.G256G|ZNF641_uc010sls.2_Silent_p.G247G	NM_152320	NP_001166152	Q96N77	ZN641_HUMAN	Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA.	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G270G(2)		breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CAAACTGTTTCCCACACTGGG	0.527000													6	123					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3672817	3672817	+	Missense_Mutation	SNP	G	G	A	rs149916347		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr20:3672817G>A	uc002wja.3	-	15	4063	c.4063C>T	c.(4063-4065)Cgg>Tgg	p.R1355W	SIGLEC1_uc002wiz.4_Missense_Mutation_p.R1355W|SIGLEC1_uc002wjb.1_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1355	Ig-like C2-type 14.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.R1355W(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGGAGTCCCGGAAGGAGGAC	0.612000													13	30					0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102737090	102737090	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:102737090G>T	uc001phk.3	-	7	1095	c.998C>A	c.(997-999)gCt>gAt	p.A333D		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	334	Hemopexin-like 2.				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A334D(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TTCATAAGCAGCTTCAATGCC	0.353000													3	22					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271812	22271812	+	Silent	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr19:22271812G>A	uc010ecx.3	+	3	1429	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	ZNF257_uc010ecy.3_Silent_p.Q388Q	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q420Q(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCCTTACTCAGCATAAGATAA	0.363000													3	71					0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18842131	18842131	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chrX:18842131A>G	uc004cyq.3	+	16	2073	c.1592A>G	c.(1591-1593)aAc>aGc	p.N531S	PPEF1_uc004cyp.3_Missense_Mutation_p.N503S|PPEF1_uc004cyr.3_Missense_Mutation_p.N469S|PPEF1_uc004cys.3_Missense_Mutation_p.N531S|PPEF1_uc011mja.2_Missense_Mutation_p.N466S|PPEF1_uc011mjb.2_Missense_Mutation_p.N475S	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	531					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.N531S(2)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AATCTGGTAAACATAGACCAA	0.423000													97	51					0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1831441	1831441	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr16:1831441A>G	uc002cmu.3	-	1	135	c.44T>C	c.(43-45)cTg>cCg	p.L15P	NUBP2_uc002cmw.4_5'Flank|NUBP2_uc002cmx.4_5'Flank|SPSB3_uc002cmt.3_5'UTR|SPSB3_uc010uvm.2_Missense_Mutation_p.L15P	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA.	15					intracellular signal transduction			p.L15P(2)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGCTGCACTCAGGACGAAGTG	0.617000													16	19					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12340252	12340252	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr18:12340252G>T	uc002kqz.2	-	14	2122	c.1928C>A	c.(1927-1929)aCa>aAa	p.T643K		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	643					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.T643K(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGCACCAGTTGTAATTCTTCC	0.393000													10	272					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101433785	101433785	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:101433785G>A	uc010svm.1	+	10	1522	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	ANO4_uc001thw.2_Missense_Mutation_p.R282Q|ANO4_uc001thx.2_Missense_Mutation_p.R317Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	317						chloride channel complex	chloride channel activity	p.R282Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAAAACCACCGACATCTACTC	0.438000										HNSCC(74;0.22)			104	249					0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890759	229890759	+	Silent	SNP	T	T	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:229890759T>A	uc002vpr.4	-	2	380	c.342A>T	c.(340-342)ccA>ccT	p.P114P	PID1_uc002vps.4_Silent_p.P112P|PID1_uc002vpt.4_Silent_p.P81P|PID1_uc002vpu.4_Silent_p.P32P	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	114	PID.					cytoplasm		p.V113V(1)|p.P112P(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GCTCAATGACTGGCTTTTCTG	0.532000													10	88					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196585	133196585	+	Silent	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr8:133196585G>A	uc003ytj.3	-	2	732	c.507C>T	c.(505-507)gcC>gcT	p.A169A	KCNQ3_uc003yti.3_Silent_p.A49A|KCNQ3_uc010mdt.3_Silent_p.A169A	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	169					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A169A(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AAGCAAACTCGGCTCCAAAGA	0.512000													49	80					0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	8	8095990	8095990	+	RNA	SNP	C	C	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr8:8095990C>G	uc011kwt.2	+	7		c.1185C>G			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Intron			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						CCAGGAGCCCCGAGACCTGCA	0.647000													2	4					0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57843267	57843267	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:57843267C>T	uc001snv.1	+	1	648	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	174					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	p.A174V(2)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GAGGTGGATGCCAGTGGCTGG	0.577000													4	124					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20101630	20101630	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:20101630G>T	uc010rdm.2	+	26	5729	c.5368G>T	c.(5368-5370)Gca>Tca	p.A1790S	NAV2_uc001mpp.3_Missense_Mutation_p.A1670S|NAV2_uc001mpr.4_Missense_Mutation_p.A1734S|NAV2_uc021qew.1_Missense_Mutation_p.A1734S|NAV2_uc001mpt.2_Missense_Mutation_p.A783S|NAV2_uc009yhx.3_Missense_Mutation_p.A798S|NAV2_uc009yhy.1_Missense_Mutation_p.A696S|NAV2_uc009yhz.3_Missense_Mutation_p.A379S|NAV2_uc001mpu.3_Missense_Mutation_p.A172S	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1790						nucleus	ATP binding|helicase activity	p.A1790S(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCCCAGTCTGCAGACCTCCG	0.562000													13	39					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196971637	196971637	+	Silent	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:196971637G>A	uc001gts.4	+	7	1301	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	391	Sushi 7.				complement activation, alternative pathway	extracellular region		p.P391P(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCTGCCCACCGCCACCTCAGA	0.348000													7	79					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149526028	149526028	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:149526028G>A	uc010lpk.3	+	105	15058	c.15058G>A	c.(15058-15060)Gag>Aag	p.E5020K	SSPO_uc003wgh.2_Non-coding_Transcript	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	5028	VWFC 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGCAGGGCGAGGAGATGGT	0.667000													8	6					0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47570139	47570139	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr21:47570139G>T	uc002zig.3	-	6	844	c.800C>A	c.(799-801)tCa>tAa	p.S267*	FTCD_uc002zif.3_Nonsense_Mutation_p.S267*|FTCD_uc002zih.3_Nonsense_Mutation_p.S267*|FTCD_uc010gqf.3_Nonsense_Mutation_p.S267*|FTCD_uc010gqg.1_Nonsense_Mutation_p.S136*			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	267	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	p.S267*(2)		endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CACCAGCTGTGAGCCCACCAC	0.672000													3	18					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187447645	187447645	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:187447645C>T	uc003frp.3	-	4	1005	c.548G>A	c.(547-549)aGc>aAc	p.S183N	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.S183N|BCL6_uc010hza.2_Missense_Mutation_p.S81N|BCL6_uc003frq.2_Missense_Mutation_p.S183N	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	183					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S183N(2)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACTGTACAGGCTGGGGGCAAA	0.602000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								30	38					0	0	1	0	0
TLX1	3195	broad.mit.edu	37	10	102896459	102896459	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:102896459C>G	uc001ksw.3	+	2	1020	c.782C>G	c.(781-783)gCg>gGg	p.A261G	TLX1_uc021pxd.1_3'UTR	NM_005521	NP_005512	P31314	TLX1_HUMAN	Homo sapiens T-cell leukemia homeobox 1 (TLX1), transcript variant 1, mRNA.	261						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A261G(1)		breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGGCAGACTGCGGAGGAACGG	0.652000			T	"""TRB@, TRD@"""	T-ALL								5	64					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857794	124857794	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:124857794C>T	uc001qbm.4	+	7	1931	c.1672C>T	c.(1672-1674)Cag>Tag	p.Q558*		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	558						centrosome		p.Q558*(3)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACCCAAATGTCAGGACCAGGA	0.433000													16	481					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109290787	109290787	+	Silent	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:109290787C>T	uc001tnr.4	+	7	1289	c.618C>T	c.(616-618)gaC>gaT	p.D206D	DAO_uc001tnq.4_Silent_p.D140D|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Intron	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	206					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding	p.D206D(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						AACAGGTGGACGCCCCTTGGA	0.547000													34	55					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230338965	230338965	+	Silent	SNP	C	C	T			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:230338965C>T	uc010pwa.1	+	2	375	c.303C>T	c.(301-303)cgC>cgT	p.R101R	GALNT2_uc010pvy.1_Silent_p.R63R|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	101					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R101R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTTACGCCCGCAACAAGTTCA	0.552000													6	224					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95712225	95712225	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:95712225G>A	uc001pfw.1	-	4	4643	c.3358C>T	c.(3358-3360)Cct>Tct	p.P1120S		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	1120					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.P1120S(2)|p.G1119G(1)	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)				TTTAGGGCAGGGCCCATGTTA	0.423000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								27	133					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59633903	59633903	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:59633903A>G	uc001noj.2	-	0	139	c.41T>C	c.(40-42)cTg>cCg	p.L14P		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	14					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	p.L14P(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAAGAAAACAGTAAGAGCCC	0.413000													49	109					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18924180	18924180	+	Silent	SNP	G	G	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr21:18924180G>A	uc002yki.3	+	2	548	c.324G>A	c.(322-324)acG>acA	p.T108T	CXADR_uc002ykh.2_Silent_p.T108T|CXADR_uc010gld.2_Silent_p.T108T|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Silent_p.T108T|CXADR_uc002ykj.2_Silent_p.T108T	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	108	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	p.T108T(4)		endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TAAATGTAACGAATTTACAAC	0.358000													20	149					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99642555	99642555	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:99642555C>A	uc001kou.2	-	12	2019	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C	CRTAC1_uc001kov.3_Missense_Mutation_p.G555C|CRTAC1_uc001kot.2_Intron	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	555						proteinaceous extracellular matrix	calcium ion binding	p.G555C(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ATGCAATGGCCATTTTCCTGC	0.577000													17	33					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751730	140751739	+	Frame_Shift_Del	DEL	AGGTGGTGGC	-	-			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr5:140751730_140751739delAGGTGGTGGC	uc003ljw.2	+	0	1769_1778	c.1769_1778delAGGTGGTGGC	c.(1768-1779)aaggtggtggcgfs	p.K590fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Frame_Shift_Del_p.K590fs|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	591	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGACCAAGGTGGTGGCGGTGGACGCA	0.657													20	81	---	---	---	---					
RSPO2	340419	broad.mit.edu	37	8	109001381	109001383	+	In_Frame_Del	DEL	GAA	-	-			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr8:109001381_109001383delGAA	uc003yms.3	-	2	842_844	c.184_186delTTC	c.(184-186)ttcdel	p.F62del	RSPO2_uc003ymq.3_5'UTR|RSPO2_uc003ymr.3_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	62					Wnt receptor signaling pathway	extracellular region	heparin binding	p.F62S(2)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTCTTCGAAGGAAGAAGAACAAC	0.468													47	108	---	---	---	---					
BC080605	0	broad.mit.edu	37	9	68413605	68413606	+	RNA	DEL	CT	-	-			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:68413605_68413606delCT	uc004aex.3	+	0		c.160_161delCT								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TTTGCTGAAACTCTGGGGTTGA	0.609													4	6	---	---	---	---					
B3GNT4	79369	broad.mit.edu	37	12	122691205	122691209	+	Frame_Shift_Del	DEL	CTATC	-	-			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:122691205_122691209delCTATC	uc001ubx.3	+	2	625_629	c.407_411delCTATC	c.(406-411)gctatcfs	p.A136fs	B3GNT4_uc001uby.3_Frame_Shift_Del_p.A111fs	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	136					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.I137M(2)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CGACGTGCGGCTATCCGCAGCACGT	0.629													9	169	---	---	---	---					
B3GNT4	79369	broad.mit.edu	37	12	122691220	122691221	+	Frame_Shift_Ins	INS	-	CT	CT			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:122691220_122691221insCT	uc001ubx.3	+	2	640_641	c.422_423insCT	c.(421-423)tggfs	p.W141fs	B3GNT4_uc001uby.3_Frame_Shift_Ins_p.W116fs	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	141					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CGCAGCACGTGGGGCAGGGTGG	0.644													22	133	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			4	7	---	---	---	---					
