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
MYH11	4629	broad.mit.edu	37	16	15841523	15841523	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr16:15841523G>C	ENST00000452625.2	-	20	2423	c.2336C>G	c.(2335-2337)aCt>aGt	p.T779S	MYH11_ENST00000576790.2_Missense_Mutation_p.T772S|MYH11_ENST00000396324.3_Missense_Mutation_p.T779S|MYH11_ENST00000300036.5_Missense_Mutation_p.T772S	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	772	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAGGACGCCAGTTCGGAAGAA	0.507000			T	CBFB	AML								4	74					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	by1000genomes	TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672000													4	65					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170982	113170982	+	Missense_Mutation	SNP	T	T	G			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr9:113170982T>G	ENST00000401783.2	-	38	7234	c.6898A>C	c.(6898-6900)Agt>Cgt	p.S2300R	SVEP1_ENST00000374469.1_Missense_Mutation_p.S2277R|SVEP1_ENST00000297826.5_Missense_Mutation_p.S226R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2300	Sushi 15.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTCCAAGAACTGTCACCAACA	0.468000													5	74					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73843305	73843305	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr6:73843305G>A	ENST00000342056.2	+	11	1864	c.1466G>A	c.(1465-1467)cGa>cAa	p.R489Q	KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R461Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R480Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R471Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R470Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R470Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	470					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTCAACGACCGAACCCGCTTC	0.542000													11	34					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	708562	708562	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr16:708562C>T	ENST00000549091.1	+	23	2896	c.2804C>T	c.(2803-2805)aCg>aTg	p.T935M	WDR90_ENST00000293879.4_Missense_Mutation_p.T935M	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	935										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCCTCCTTGACGCTCAGTGAG	0.672000													18	48					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71444608	71444608	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr14:71444608T>A	ENST00000304743.2	+	6	2000	c.1554T>A	c.(1552-1554)agT>agA	p.S518R	PCNX_ENST00000238570.5_Missense_Mutation_p.S518R|PCNX_ENST00000439984.3_Missense_Mutation_p.S518R	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	518						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGAGAAGAGTGATAAGTCAG	0.433000													27	56					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59112096	59112096	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr17:59112096C>G	ENST00000589222.1	+	17	1775	c.1707C>G	c.(1705-1707)atC>atG	p.I569M	BCAS3_ENST00000408905.3_Missense_Mutation_p.I569M|BCAS3_ENST00000588874.1_Missense_Mutation_p.I340M|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588462.1_Missense_Mutation_p.I584M|BCAS3_ENST00000407086.3_Missense_Mutation_p.I569M|BCAS3_ENST00000390652.5_Missense_Mutation_p.I584M|BCAS3_ENST00000585744.1_Missense_Mutation_p.I355M			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	584						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGGCTGCTATCTTCGGAACAT	0.338000													5	56					0	0	1	0	0
SOCS3	9021	broad.mit.edu	37	17	76354650	76354650	+	Missense_Mutation	SNP	A	A	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr17:76354650A>T	ENST00000330871.2	-	2	942	c.527T>A	c.(526-528)cTg>cAg	p.L176Q		NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	176					anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GCTCAACACCAGGGGGATCTT	0.632000													5	52					0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269311	37269311	+	Silent	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr13:37269311C>T	ENST00000315190.3	+	2	542	c.96C>T	c.(94-96)gaC>gaT	p.D32D		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	32						integral to membrane											CGTCAGTGGACCCATCCTCAG	0.478000													4	106					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039009	153039009	+	Silent	SNP	A	A	G			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chrX:153039009A>G	ENST00000538966.1	+	20	3460	c.3189A>G	c.(3187-3189)ctA>ctG	p.L1063L	PLXNB3_ENST00000538776.1_Silent_p.L693L|PLXNB3_ENST00000538282.1_Silent_p.L650L|PLXNB3_ENST00000361971.5_Silent_p.L1040L	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1040	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCACCGGCCTAGACGTGGTGC	0.687000													16	25					0	0	1	0	0
KRTAP4-3	85290	broad.mit.edu	37	17	39324104	39324104	+	Silent	SNP	A	A	G	rs66489415		TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr17:39324104A>G	ENST00000391356.2	-	1	320	c.321T>C	c.(319-321)tcT>tcC	p.S107S		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	107	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].		Missing (in allele KAP3-v2).			keratin filament		p.S107S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TGCAGCAACTAGAAATGCAGC	0.597000													3	23					0	0	1	0	0
DMRT1	1761	broad.mit.edu	37	9	847049	847049	+	Missense_Mutation	SNP	A	A	C			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr9:847049A>C	ENST00000382276.3	+	2	593	c.444A>C	c.(442-444)aaA>aaC	p.K148N	DMRT1_ENST00000569227.1_5'UTR	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	148					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TGCTTGTCAAAAGAGAGAACA	0.607000													24	10					0	0	1	0	0
GLTP	51228	broad.mit.edu	37	12	110290360	110290360	+	Nonstop_Mutation	SNP	C	C	G			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr12:110290360C>G	ENST00000318348.4	-	5	743	c.630G>C	c.(628-630)taG>taC	p.*210Y	GLTP_ENST00000544393.1_Nonstop_Mutation_p.*191Y	NM_016433.3	NP_057517.1	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	0						cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		GTGGGCATGCCTACACCTTGT	0.537000													19	199					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34870990	34870990	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr17:34870990G>A	ENST00000431794.3	-	8	1105	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	MYO19_ENST00000268852.9_Missense_Mutation_p.R195C|MYO19_ENST00000586007.1_Missense_Mutation_p.R195C|MYO19_ENST00000544606.1_Missense_Mutation_p.R61C	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	195	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTCCCAAAGCGACTGCTGTTG	0.522000													3	17					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6182827	6182827	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr12:6182827C>A	ENST00000261405.5	-	8	1209	c.955G>T	c.(955-957)Gaa>Taa	p.E319*		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	319	TIL 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGACACATTTCATTGATGTGC	0.537000													7	56					2.0095e-06	2.21417e-06	1	1	0
RFPL2	10739	broad.mit.edu	37	22	32590424	32590424	+	Missense_Mutation	SNP	A	A	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr22:32590424A>T	ENST00000400237.1	-	3	1108	c.173T>A	c.(172-174)cTc>cAc	p.L58H	RFPL2_ENST00000400236.3_5'UTR|RFPL2_ENST00000248983.4_Intron			O75678	RFPL2_HUMAN	ret finger protein-like 2	58							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TTTATTGGTGAGATTCCCACC	0.522000													8	20					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39120312	39120312	+	Silent	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr22:39120312G>A	ENST00000216044.5	+	6	1202	c.969G>A	c.(967-969)aaG>aaA	p.K323K		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	323					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					AAACCCTGAAGCTGTTACAGC	0.517000													17	42					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48506305	48506305	+	Missense_Mutation	SNP	G	G	A	rs72556553	byFrequency	TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr3:48506305G>A	ENST00000412052.1	+	12	2314	c.1852G>A	c.(1852-1854)Gac>Aac	p.D618N	ATRIP_ENST00000346691.4_Missense_Mutation_p.D684N|ATRIP_ENST00000357105.6_Missense_Mutation_p.D584N|ATRIP_ENST00000320211.3_Missense_Mutation_p.D711N	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	711					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCAAGGACCGACCAGCAGAG	0.637000								Other conserved DNA damage response genes					5	36					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	35					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000													4	116					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744186	54744186	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr19:54744186A>G	ENST00000419410.2	-	6	1223	c.1222T>C	c.(1222-1224)Tct>Cct	p.S408P	LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.S408P|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.S408P|LILRA6_ENST00000440558.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGGAAAGACAGCAGGTGG	0.617000													4	251					0	0	1	0	0
ACAD11	84129	broad.mit.edu	37	3	132347272	132347272	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr3:132347272G>T	ENST00000264990.6	-	8	1953	c.982C>A	c.(982-984)Ctt>Att	p.L328I	ACAD11_ENST00000355458.3_Missense_Mutation_p.L328I|ACAD11_ENST00000481970.2_Missense_Mutation_p.L328I|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TTTCCCAGAAGATATCTGCTA	0.343000													7	206					1.06961e-07	1.21223e-07	1	1	0
PPP1R36	145376	broad.mit.edu	37	14	65056036	65056036	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr14:65056036C>T	ENST00000298705.1	+	12	1345	c.1249C>T	c.(1249-1251)Cat>Tat	p.H417Y	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	417																	ACTGTCCTCTCATACATCATG	0.343000													8	79					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89583361	89583361	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr1:89583361G>T	ENST00000370466.3	-	5	792	c.524C>A	c.(523-525)gCa>gAa	p.A175E	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	175					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCACACAAATGCTGGAAAAAA	0.453000													6	66					8.12818e-05	8.6362e-05	1	1	0
MICU3	286097	broad.mit.edu	37	8	16963025	16963025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr8:16963025C>T	ENST00000318063.5	+	11	1231	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1			mitochondrial calcium uptake family, member 3																		TATTCTTTTACGATATACAAA	0.308000													5	52					0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38241968	38241968	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr10:38241968T>A	ENST00000302609.7	-	6	670	c.458A>T	c.(457-459)aAa>aTa	p.K153I	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				AGAGAAAGATTTCCCACATTT	0.368000													73	67					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3750128	3750128	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr2:3750128C>T	ENST00000252505.3	+	12	1313	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	403							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TTGAAGTTCTCGGTGAGCTTC	0.557000										HNSCC(21;0.051)			9	15					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36179490	36179490	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr4:36179490C>T	ENST00000303965.4	-	9	2305	c.1816G>A	c.(1816-1818)Gtg>Atg	p.V606M		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	606	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCACTTAACACAGTAAAAATT	0.368000													26	53					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35510308	35510308	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr19:35510308G>A	ENST00000599564.1	+	14	1678	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R442H|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.R215H|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R449H|CTD-2527I21.14_ENST00000605640.1_RNA			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	449						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTGTTCCGGCGCGGCCCCCAG	0.687000													42	60					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806099	1806099	+	Missense_Mutation	SNP	A	A	G	rs121913485		TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr4:1806099A>G	ENST00000340107.4	+	9	1380	c.1124A>G	c.(1123-1125)tAt>tGt	p.Y375C	FGFR3_ENST00000260795.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000440486.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000481110.2_Missense_Mutation_p.Y373C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	373			G -> C (in ACH).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.Y373C(395)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCAGTGTGTATGCAGGCATC	0.682000	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				83	20					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124487052	124487052	+	Splice_Site	SNP	C	C	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr7:124487052C>A	ENST00000357628.3	-	12	1548	c.950G>T	c.(949-951)aGc>aTc	p.S317I	POT1_ENST00000393329.1_Splice_Site_p.S186I	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	317					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGATCCAGAGCCTATAAAAAG	0.343000													14	27					4.7546e-09	5.54704e-09	1	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110450479	110450479	+	Missense_Mutation	SNP	A	A	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr11:110450479A>T	ENST00000260283.4	-	16	3475	c.3191T>A	c.(3190-3192)aTa>aAa	p.I1064K	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.I607K|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.I1041K|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.I1038K|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.I1028K|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.I1028K|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.I1038K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1064					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGGAGAAGCTATTTTCTCTTC	0.483000													47	77					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125262121	125262121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr2:125262121G>T	ENST00000431078.1	+	8	1676	c.1312G>T	c.(1312-1314)Gaa>Taa	p.E438*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	438	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACGCGTAGCTGAAATCCTCAC	0.493000													13	25					0.00136819	0.00141578	1	1	0
AQR	9716	broad.mit.edu	37	15	35236591	35236591	+	Missense_Mutation	SNP	A	A	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr15:35236591A>T	ENST00000156471.5	-	6	594	c.369T>A	c.(367-369)ttT>ttA	p.F123L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	123						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGATGTGTTTAAAAAAGAATG	0.338000													5	219					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166536027	166536027	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr2:166536027G>C	ENST00000314499.7	+	7	1898	c.1522G>C	c.(1522-1524)Gaa>Caa	p.E508Q	CSRNP3_ENST00000342316.4_Missense_Mutation_p.E508Q|CSRNP3_ENST00000409420.1_Missense_Mutation_p.E540Q	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	508					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.E508K(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CTCCTCTTCCGAAAATGATAG	0.507000													3	39					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27703993	27703993	+	Silent	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr2:27703993G>A	ENST00000260570.3	-	8	808	c.705C>T	c.(703-705)agC>agT	p.S235S	IFT172_ENST00000416524.2_Silent_p.S214S|IFT172_ENST00000359466.6_Silent_p.S235S	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	235					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GAGGGTCACGGCTATAATCAA	0.498000													3	30					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651678	1651678	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr11:1651678G>A	ENST00000399676.2	+	1	646	c.608G>A	c.(607-609)aGc>aAc	p.S203N		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	203	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGCCCTGTAGCTGCTTCTCA	0.597000													8	199					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12461157	12461157	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr19:12461157G>C	ENST00000242804.4	-	6	1824	c.1242C>G	c.(1240-1242)ttC>ttG	p.F414L	ZNF442_ENST00000438182.1_Missense_Mutation_p.F345L	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TGGGATAAATGAAGGCTTTCC	0.418000													4	206					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138712777	138712777	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr9:138712777G>C	ENST00000389532.4	-	11	3794	c.3730C>G	c.(3730-3732)Ccc>Gcc	p.P1244A	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P966A|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1255A	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1244						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCCTCGTCGGGGGCCTTCAGG	0.627000													7	25					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695650	109695650	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chrX:109695650C>A	ENST00000465301.2	+	3	2051	c.1805C>A	c.(1804-1806)tCc>tAc	p.S602Y	RGAG1_ENST00000540313.1_Missense_Mutation_p.S602Y	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	602										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGAGTGATGTCCTGTCCACAA	0.502000													20	123					1.2644e-06	1.40621e-06	1	1	0
KCNQ3	3786	broad.mit.edu	37	8	133153471	133153471	+	Missense_Mutation	SNP	G	G	T	rs147190128		TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr8:133153471G>T	ENST00000388996.4	-	10	1790	c.1370C>A	c.(1369-1371)cCt>cAt	p.P457H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P457H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P337H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	457					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			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)			TTCTTTAGAAGGACTTTCTTC	0.458000													39	82					5.73237e-09	6.62283e-09	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215821416	215821416	+	Silent	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr2:215821416G>A	ENST00000272895.7	-	42	6423	c.6204C>T	c.(6202-6204)ggC>ggT	p.G2068G	ABCA12_ENST00000389661.4_Silent_p.G1750G|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2068					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGATACAGCGCCTAGGTTGT	0.373000													38	68					0	0	1	0	0
NPM3	10360	broad.mit.edu	37	10	103541540	103541540	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr10:103541540C>G	ENST00000370110.5	-	5	512	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	164	Asp/Glu-rich (highly acidic).						nucleic acid binding			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		GGGCACAGCTCAACTTCTTCC	0.562000											OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	161					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869685	52869685	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr19:52869685G>T	ENST00000601151.1	+	5	1377	c.925G>T	c.(925-927)Gtc>Ttc	p.V309F	ZNF610_ENST00000403906.3_Missense_Mutation_p.V352F|ZNF610_ENST00000321287.8_Missense_Mutation_p.V352F|ZNF610_ENST00000327920.8_Missense_Mutation_p.V352F	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V352I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		ATGTGGCAAGGTCTTTAGTCT	0.408000													5	94					0.000602214	0.000628627	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1272702	1272702	+	Silent	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr11:1272702G>A	ENST00000447027.1	+	31	14659	c.14601G>A	c.(14599-14601)acG>acA	p.T4867T	MUC5B_ENST00000529681.1_Silent_p.T4864T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4864	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		A -> T (in dbSNP:rs3021155).		cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGTTCCACGGCCACCGCCT	0.647000													4	85					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147560375	147560375	+	Missense_Mutation	SNP	A	A	G			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr6:147560375A>G	ENST00000367481.3	+	4	508	c.400A>G	c.(400-402)Ata>Gta	p.I134V	STXBP5_ENST00000367480.3_Missense_Mutation_p.I134V|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.I134V|STXBP5_ENST00000321680.6_Missense_Mutation_p.I134V	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	134					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GAGGCCTGCCATACTACATTC	0.353000													44	59					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127920568	127920568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr9:127920568G>A	ENST00000451402.1	-	5	662	c.442C>T	c.(442-444)Cga>Tga	p.R148*	PPP6C_ENST00000373547.4_Nonsense_Mutation_p.R111*|PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000415905.1_Nonsense_Mutation_p.R89*	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	111					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TGATTTCCTCGCAAAAGTGTA	0.363000													4	121					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46120874	46120874	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr1:46120874G>C	ENST00000355105.3	-	5	1538	c.178C>G	c.(178-180)Cga>Gga	p.R60G	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.R60G	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CCTGCAGTTCGTAGGGGACCA	0.453000													35	96					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57036524	57036524	+	Missense_Mutation	SNP	G	G	A	rs142290015		TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr19:57036524G>A	ENST00000308031.5	+	5	1221	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	ZNF471_ENST00000591537.1_Missense_Mutation_p.V223I|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TCTTTTATTCGTCACTGGAGG	0.413000													36	79					0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19555084	19555084	+	Silent	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr17:19555084C>T	ENST00000176643.6	+	2	824	c.378C>T	c.(376-378)atC>atT	p.I126I	ALDH3A2_ENST00000579855.1_Silent_p.I126I|ALDH3A2_ENST00000339618.4_Silent_p.I126I|ALDH3A2_ENST00000395575.2_Silent_p.I126I|ALDH3A2_ENST00000581518.1_Silent_p.I126I			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	126					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	TAGGAGCCATCGCTGCAGGTC	0.433000													19	88					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177199212	177199212	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr1:177199212G>A	ENST00000361539.4	+	2	512	c.200G>A	c.(199-201)cGc>cAc	p.R67H		NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	67																	CCCTTCCACCGCGCTCAGGAG	0.637000													36	50					0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63269512	63269512	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr1:63269512G>T	ENST00000317868.4	+	2	262	c.55G>T	c.(55-57)Gct>Tct	p.A19S	ATG4C_ENST00000371120.3_Missense_Mutation_p.A19S	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	19					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						ATTTATATCTGCTTGGAACAA	0.303000													19	61					1.55795e-14	1.89179e-14	1	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94827700	94827700	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr7:94827700G>T	ENST00000289495.5	+	5	2010	c.1794G>T	c.(1792-1794)gaG>gaT	p.E598D	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E598D|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E598D|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E598D|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E598D|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E598D	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	598	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGTGAGCGAGGTTGCCCAGT	0.468000										HNSCC(28;0.073)			29	61					1.5548e-18	1.90743e-18	1	1	0
GBP4	115361	broad.mit.edu	37	1	89655755	89655755	+	Missense_Mutation	SNP	T	T	G			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr1:89655755T>G	ENST00000355754.6	-	7	1260	c.1163A>C	c.(1162-1164)aAg>aCg	p.K388T		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	388						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GTTTTCATCCTTGAAGGAGTG	0.483000													5	74					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820879	35820879	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chrX:35820879C>T	ENST00000399989.1	+	2	845	c.566C>T	c.(565-567)aCc>aTc	p.T189I	MAGEB16_ENST00000399988.1_Missense_Mutation_p.T189I|MAGEB16_ENST00000399992.1_Missense_Mutation_p.T221I|MAGEB16_ENST00000399987.1_Missense_Mutation_p.T189I|MAGEB16_ENST00000399985.1_Missense_Mutation_p.T189I	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	189	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGGGCCTCACCTATGATGGG	0.527000													10	77					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662022	99662022	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chrX:99662022T>C	ENST00000373034.4	-	1	3249	c.1574A>G	c.(1573-1575)cAg>cGg	p.Q525R	PCDH19_ENST00000255531.7_Missense_Mutation_p.Q525R|PCDH19_ENST00000420881.2_Missense_Mutation_p.Q525R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	525	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGCCTTGGTCTGCTCGTGGTT	0.582000													44	95					0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99854026	99854026	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr6:99854026C>T	ENST00000369239.5	-	8	1087	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	PNISR_ENST00000438806.1_Missense_Mutation_p.E295K	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	295						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCAGTGTCTTCTTCTTCCTCA	0.388000													9	43					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95562662	95562662	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr14:95562662T>C	ENST00000526495.1	-	25	4886	c.4595A>G	c.(4594-4596)gAa>gGa	p.E1532G	DICER1_ENST00000541352.1_Missense_Mutation_p.E1532G|DICER1_ENST00000527414.1_Missense_Mutation_p.E1532G|DICER1_ENST00000556045.1_Missense_Mutation_p.E430G|DICER1_ENST00000393063.1_Missense_Mutation_p.E1532G|DICER1_ENST00000343455.3_Missense_Mutation_p.E1532G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1532					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACAGTTTTCTTCTGATGGATT	0.468000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				43	56					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26681860	26681860	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr11:26681860C>A	ENST00000256737.3	+	27	3667	c.2815C>A	c.(2815-2817)Cca>Aca	p.P939T	ANO3_ENST00000531568.1_Missense_Mutation_p.P793T|ANO3_ENST00000537978.1_Missense_Mutation_p.P923T|ANO3_ENST00000525139.1_Missense_Mutation_p.P923T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	939						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCCAGACGTACCAAAGGGTCT	0.388000													5	107					0.184627	0.189402	1	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072213	17072213	+	Missense_Mutation	SNP	G	G	C			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr22:17072213G>C	ENST00000359963.3	-	1	1487	c.1228C>G	c.(1228-1230)Cca>Gca	p.P410A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	410					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCAGCTCCTGGAATCAGTCTG	0.552000													13	40					0	0	1	0	0
CHPT1	56994	broad.mit.edu	37	12	102108314	102108314	+	Missense_Mutation	SNP	C	C	G			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr12:102108314C>G	ENST00000549872.1	+	3	644	c.454C>G	c.(454-456)Cgc>Ggc	p.R152G	CHPT1_ENST00000550385.1_3'UTR|CHPT1_ENST00000229266.3_Missense_Mutation_p.R152G			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	152					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AATTGCCGCTCGCTTAGGAAC	0.353000													4	74					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			10	7					0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132325334	132325334	+	Silent	SNP	C	C	T	rs138755759		TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr12:132325334C>T	ENST00000360564.1	+	4	741	c.639C>T	c.(637-639)ccC>ccT	p.P213P	MMP17_ENST00000535291.1_Silent_p.P129P|MMP17_ENST00000535182.1_3'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	213					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCTTCTTCCCCGGCCACCACC	0.692000													24	31					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554489	140554489	+	Silent	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr5:140554489G>A	ENST00000231137.3	+	1	2247	c.2073G>A	c.(2071-2073)gcG>gcA	p.A691A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		691					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGTGGCGTTGGCCTCGG	0.706000													6	124					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr4:190878646G>T	ENST00000226798.4	+	6	748	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	176					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		p.E176*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373000													4	53					1.23904e-05	1.34042e-05	1	1	0
RP1	6101	broad.mit.edu	37	8	55540138	55540138	+	Silent	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr8:55540138C>T	ENST00000220676.1	+	4	3844	c.3696C>T	c.(3694-3696)atC>atT	p.I1232I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1232					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CACAAGGAATCTCCTCTTTGG	0.438000													6	142					0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599085	151599085	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr3:151599085C>T	ENST00000362032.5	+	3	859	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TCACGTCATGCGGAATGTGAG	0.502000													4	332					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20012253	20012253	+	Silent	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr13:20012253G>A	ENST00000400230.2	-	14	1058	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	TPTE2_ENST00000382977.4_Silent_p.S338S|TPTE2_ENST00000382975.4_Silent_p.S298S|TPTE2_ENST00000400103.2_Silent_p.S227S|TPTE2_ENST00000457266.2_Silent_p.S227S|TPTE2_ENST00000390680.2_Silent_p.S261S|TPTE2_ENST00000255310.6_Silent_p.S261S|TPTE2_ENST00000382978.1_Silent_p.S298S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	338	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAATATTTCGGAGGCAATAA	0.368000													23	50					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													3	30					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961744	73961744	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chrX:73961744C>T	ENST00000055682.6	-	3	3259	c.2648G>A	c.(2647-2649)aGc>aAc	p.S883N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTATAGTTGCTTGATTCCAT	0.478000													26	37					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55607038	55607038	+	Missense_Mutation	SNP	C	C	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr11:55607038C>A	ENST00000378396.1	+	1	811	c.811C>A	c.(811-813)Cac>Aac	p.H271N		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AAACTCCAGGCACACAGTCAA	0.493000													6	72					0.217242	0.219083	1	1	0
CUL3	8452	broad.mit.edu	37	2	225376176	225376176	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr2:225376176T>C	ENST00000264414.4	-	6	1116	c.778A>G	c.(778-780)Att>Gtt	p.I260V	CUL3_ENST00000409096.1_Missense_Mutation_p.I236V|CUL3_ENST00000409777.1_Missense_Mutation_p.I236V|CUL3_ENST00000344951.4_Missense_Mutation_p.I194V	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	260					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACCTTTACAATTGGTTCTTCC	0.353000													6	86					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501471	220501471	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr2:220501471G>A	ENST00000358055.3	+	16	2922	c.2410G>A	c.(2410-2412)Gtc>Atc	p.V804I	SLC4A3_ENST00000317151.3_Missense_Mutation_p.V804I|SLC4A3_ENST00000373762.3_Missense_Mutation_p.V831I|SLC4A3_ENST00000373760.2_Missense_Mutation_p.V804I|SLC4A3_ENST00000273063.6_Missense_Mutation_p.V831I			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	804	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGTCTTCGTCCTTGCCCT	0.592000													3	65					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153943704	153943704	+	Silent	SNP	T	T	C			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr3:153943704T>C	ENST00000356448.4	+	11	2279	c.1995T>C	c.(1993-1995)taT>taC	p.Y665Y	ARHGEF26_ENST00000483068.1_3'UTR|ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Silent_p.Y665Y	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	665	PH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TGACAGCCTATGTTGAAGACA	0.408000													39	66					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67863341	67863341	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr16:67863341G>A	ENST00000562787.1	-	13	1813	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	CENPT_ENST00000564817.1_Missense_Mutation_p.A367V|CENPT_ENST00000219172.3_Missense_Mutation_p.A422V|CENPT_ENST00000440851.2_Missense_Mutation_p.A422V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	422					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGCACCAGGCGCTGGGGCTGG	0.582000													10	6					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4714966	4714966	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr3:4714966G>A	ENST00000354582.6	+	21	2701	c.2351G>A	c.(2350-2352)cGc>cAc	p.R784H	ITPR1_ENST00000423119.2_Missense_Mutation_p.R784H|ITPR1_ENST00000443694.2_Missense_Mutation_p.R769H|ITPR1_ENST00000456211.2_Missense_Mutation_p.R769H|ITPR1_ENST00000357086.4_Missense_Mutation_p.R784H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.R769H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	784					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCCTTCTGCCGCCTCATGCTT	0.572000													5	60					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157720	154157720	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chrX:154157720C>A	ENST00000360256.4	-	14	4545	c.4345G>T	c.(4345-4347)Gaa>Taa	p.E1449*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1449	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGACTGCTTTCTTGGACCCCA	0.418000													58	120					2.3441e-25	2.90571e-25	1	1	0
PPP4R1	9989	broad.mit.edu	37	18	9570662	9570662	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr18:9570662G>A	ENST00000400556.3	-	11	1139	c.1066C>T	c.(1066-1068)Cca>Tca	p.P356S	PPP4R1_ENST00000400555.3_Missense_Mutation_p.P339S	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	356					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						ACATCCTCTGGGGCTTCTTGA	0.368000													4	99					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860181	16860181	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr19:16860181G>A	ENST00000524140.2	+	6	1146	c.728G>A	c.(727-729)cGc>cAc	p.R243H	NWD1_ENST00000339803.6_Missense_Mutation_p.R108H|NWD1_ENST00000379808.3_Missense_Mutation_p.R243H|NWD1_ENST00000552788.1_Missense_Mutation_p.R243H|NWD1_ENST00000549814.1_Missense_Mutation_p.R243H|NWD1_ENST00000523826.1_Missense_Mutation_p.R37H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	243							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAGACCCACCGCCTGCCGTGG	0.607000													31	43					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93603730	93603730	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr3:93603730C>T	ENST00000394236.3	-	12	1650	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	PROS1_ENST00000407433.1_Missense_Mutation_p.R314H	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	445	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCCATCTAGACGAGGGTTAAT	0.323000													30	46					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101910815	101910815	+	Silent	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr13:101910815G>A	ENST00000251127.6	-	11	1326	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.Y415Y	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	415						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAACTCGTCGTACTGCCTCC	0.547000													7	3					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134642974	134642974	+	Missense_Mutation	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr7:134642974C>T	ENST00000361388.2	+	11	1773	c.1307C>T	c.(1306-1308)tCg>tTg	p.S436L	CALD1_ENST00000361901.2_Missense_Mutation_p.S410L|CALD1_ENST00000361675.2_Missense_Mutation_p.S665L|CALD1_ENST00000393118.2_Missense_Mutation_p.S430L|CALD1_ENST00000422748.1_Missense_Mutation_p.S435L|CALD1_ENST00000417172.1_Missense_Mutation_p.S410L|CALD1_ENST00000543443.1_Missense_Mutation_p.S415L|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000495522.1_Missense_Mutation_p.S429L|CALD1_ENST00000424922.1_Missense_Mutation_p.S404L	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	665					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	p.S665L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GGTGTCAAATCGACCCATCAA	0.403000													43	72					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													3	31					0	0	1	0	0
ZNF728	388523	broad.mit.edu	37	19	23159408	23159408	+	Missense_Mutation	SNP	G	G	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr19:23159408G>T	ENST00000594710.1	-	4	876	c.731C>A	c.(730-732)aCt>aAt	p.T244N		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		CTTATGCTTAGTAAGGATTGA	0.398000													22	50					3.62473e-10	4.31343e-10	1	1	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													4	67					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123202462	123202462	+	Missense_Mutation	SNP	T	T	C			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chrX:123202462T>C	ENST00000371160.1	+	24	2604	c.2314T>C	c.(2314-2316)Tgt>Cgt	p.C772R	STAG2_ENST00000218089.9_Missense_Mutation_p.C772R|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.C703R|STAG2_ENST00000371157.3_Missense_Mutation_p.C772R|STAG2_ENST00000371144.3_Missense_Mutation_p.C772R|STAG2_ENST00000371145.3_Missense_Mutation_p.C772R	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	772					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTGTCAGATATGTCAACATTA	0.289000													81	117					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935357	151935357	+	Silent	SNP	T	T	C	rs35014597	byFrequency	TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chrX:151935357T>C	ENST00000393902.3	-	3	1377	c.810A>G	c.(808-810)gaA>gaG	p.E270E	MAGEA3_ENST00000370278.3_Silent_p.E270E			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	270	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCCACAGGAATTCATAACATG	0.532000													22	252					0	0	1	0	0
MS4A7	58475	broad.mit.edu	37	11	60160192	60160192	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr11:60160192T>A	ENST00000358246.1	+	5	639	c.446T>A	c.(445-447)cTg>cAg	p.L149Q	MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.L149Q|MS4A7_ENST00000300184.3_Missense_Mutation_p.L194Q	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	194						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TTCACTGTGCTGGAGCTCTTA	0.507000													4	164					0	0	1	0	0
LCP2	3937	broad.mit.edu	37	5	169701311	169701311	+	Silent	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr5:169701311C>T	ENST00000046794.5	-	6	933	c.318G>A	c.(316-318)tcG>tcA	p.S106S		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	106					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCACAAAGGACGACCAGCCCC	0.537000													6	14					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952090	178952090	+	Missense_Mutation	SNP	G	G	C	rs121913277		TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr3:178952090G>C	ENST00000263967.3	+	21	3302	c.3145G>C	c.(3145-3147)Ggt>Cgt	p.G1049R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1049	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G1049R(27)|p.G1049S(13)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGCACATCATGGTGGCTGGAC	0.378000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	63					0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143430	61143430	+	RNA	SNP	G	G	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr20:61143430G>T	ENST00000475015.1	-	0	908				C20orf166-AS1_ENST00000412495.1_RNA																							GGTCACAGCTGCTCCTGGGAC	0.667000													13	43					1.05317e-09	1.24086e-09	1	1	0
TECTA	7007	broad.mit.edu	37	11	120984327	120984327	+	Silent	SNP	C	C	T	rs34605023	byFrequency	TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr11:120984327C>T	ENST00000392793.1	+	6	961	c.690C>T	c.(688-690)atC>atT	p.I230I	TECTA_ENST00000264037.2_Silent_p.I230I			O75443	TECTA_HUMAN	tectorin alpha	230	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCCCCGAGATCGTGAATATCC	0.493000													39	38					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154133155	154133155	+	Missense_Mutation	SNP	T	T	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chrX:154133155T>A	ENST00000360256.4	-	16	5717	c.5517A>T	c.(5515-5517)caA>caT	p.Q1839H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1839	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCATATGATGTTGCACTTTCC	0.413000													4	99					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720764	140720764	+	Silent	SNP	C	C	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr5:140720764C>T	ENST00000394576.2	+	1	2226	c.2226C>T	c.(2224-2226)ggC>ggT	p.G742G	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTGTGGGCGTGGACGGGG	0.627000													56	65					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138643822	138643822	+	Silent	SNP	G	G	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chrX:138643822G>T	ENST00000218099.2	+	8	985	c.978G>T	c.(976-978)gtG>gtT	p.V326V	F9_ENST00000394090.2_Silent_p.V288V	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	326	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AACCCTTAGTGCTAAACAGCT	0.423000													20	138					8.00594e-06	8.74043e-06	1	1	0
VARS2	57176	broad.mit.edu	37	6	30890956	30890956	+	Missense_Mutation	SNP	G	G	A			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr6:30890956G>A	ENST00000321897.5	+	23	2893	c.2261G>A	c.(2260-2262)cGc>cAc	p.R754H	VARS2_ENST00000541562.1_Missense_Mutation_p.R784H|VARS2_ENST00000416670.2_Missense_Mutation_p.R754H|VARS2_ENST00000542001.1_Missense_Mutation_p.R614H|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	754					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	p.R754L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AATGCTCTTCGCTTTATCCTC	0.517000													59	43					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36766641	36766642	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr1:36766641_36766642insT	ENST00000354618.5	+	10	2682_2683	c.2458_2459insT	c.(2458-2460)gtgfs	p.V820fs	THRAP3_ENST00000469141.2_Frame_Shift_Ins_p.V820fs	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	820					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAAAGACTTTGTGGGTCCAAGT	0.510			T	USP6	aneurysmal bone cysts								22	27	---	---	---	---					
RPTN	126638	broad.mit.edu	37	1	152128637	152128640	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr1:152128637_152128640delTGTC	ENST00000316073.3	-	3	999_1002	c.935_938delGACA	c.(934-939)agacaafs	p.RQ312fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	312	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.515													7	991	---	---	---	---					
ZNRD1-AS1	80862	broad.mit.edu	37	6	29970905	29970906	+	RNA	INS	-	-	G	rs139061936	by1000genomes	TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr6:29970905_29970906insG	ENST00000376797.3	-	0	1548				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							gctgaggccctcttcccatggg	0.545													5	2	---	---	---	---					
TRBV7-4	28594	broad.mit.edu	37	7	142176678	142176679	+	RNA	DEL	CA	CA	-			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr7:142176678_142176679delCA	ENST00000390369.2	-	0	49																											GTAGTCATCGCACACACACACA	0.460													7	66	---	---	---	---					
SLC26A7	115111	broad.mit.edu	37	8	92350397	92350411	+	In_Frame_Del	DEL	CTTGTTATTGCACCA	CTTGTTATTGCACCA	-	rs141877489		TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr8:92350397_92350411delCTTGTTATTGCACCA	ENST00000276609.3	+	7	1054_1068	c.815_829delCTTGTTATTGCACCA	c.(814-831)gcttgttattgcaccaat>gat	p.272_277ACYCTN>D	SLC26A7_ENST00000523719.1_In_Frame_Del_p.272_277ACYCTN>D|SLC26A7_ENST00000309536.2_In_Frame_Del_p.272_277ACYCTN>D	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	272						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCATCATTTGCTTGTTATTGCACCAATATGGAAAA	0.279													8	40	---	---	---	---					
SET	6418	broad.mit.edu	37	9	131451933	131451933	+	Splice_Site	DEL	A	A	-			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr9:131451933delA	ENST00000322030.8	+	1	429	c.72delA	c.(70-72)tca>tc	p.S24fs	SET_ENST00000372692.4_Intron|SET_ENST00000409104.3_Intron	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene	37					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		ACGAGACCTCAGGTGAGAGCA	0.786			T	NUP214	AML								2	4	---	---	---	---					
MYOF	26509	broad.mit.edu	37	10	95111586	95111587	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr10:95111586_95111587delAG	ENST00000371501.4	-	33	3620_3621	c.3498_3499delCT	c.(3496-3501)atctgtfs	p.IC1166fs	MYOF_ENST00000358334.5_Frame_Shift_Del_p.IC1153fs|MYOF_ENST00000359263.4_Frame_Shift_Del_p.IC1166fs|MYOF_ENST00000371502.4_Frame_Shift_Del_p.IC1166fs			Q9NZM1	MYOF_HUMAN	myoferlin	1166	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGAGGAAACAGATATGAGCAT	0.426													47	23	---	---	---	---					
BAD	572	broad.mit.edu	37	11	64039192	64039193	+	In_Frame_Ins	INS	-	-	GGG			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr11:64039192_64039193insGGG	ENST00000394532.3	-	2	540_541	c.270_271insCCC	c.(268-273)cccagc>cccCCCagc	p.90_91insP	BAD_ENST00000394531.3_In_Frame_Ins_p.137_137P>PP|BAD_ENST00000544785.1_Intron|BAD_ENST00000309032.3_In_Frame_Ins_p.90_91insP	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	90					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						CGAAAGGGGCTGGGCTCCTCCC	0.703													2	4	---	---	---	---					
CYP4F8	11283	broad.mit.edu	37	19	15734900	15734904	+	RNA	DEL	GAATG	GAATG	-			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chr19:15734900_15734904delGAATG	ENST00000441682.2	+	0	1172_1176							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TAAAGAGATTGAATGGTGAGTGCAG	0.546													10	47	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44870265	44870266	+	Splice_Site	INS	-	-	T			TCGA-ZF-A9RE-01A-11D-A38G-08	TCGA-ZF-A9RE-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	312614ab-1a74-45ec-a73f-766c826f4d00	12084bd8-631f-4671-8526-0630ed0e4460	g.chrX:44870265_44870266insT	ENST00000377967.4	+	5	484		c.e5+1		KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(12)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CATTTCAGTGGTAAGTTGACAT	0.317			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								21	45	---	---	---	---					
