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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ALLC	55821	broad.mit.edu	37	2	3743874	3743874	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:3743874G>A	uc010ewt.3	+	8	838	c.677G>A	c.(676-678)gGg>gAg	p.G226E	ALLC_uc002qyf.3_5'UTR	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	245							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)		GGAGTTGGCGGGGCAAAGTCT	0.363000										HNSCC(21;0.051)				30			3		0	0	1	0	0
AARD	441376	broad.mit.edu	37	8	117954928	117954928	+	Silent	SNP	G	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:117954928G>A	uc003yof.3	+	1	475	c.456G>A	c.(454-456)gcG>gcA	p.A152A		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	Homo sapiens chromosome 8 open reading frame 85 (C8orf85), mRNA.	152																	ATGATGCTGCGAATCCGGAAT	0.502000														20			14		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214815136	214815136	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:214815136A>G	uc001hkm.3	+	11	3629	c.3455A>G	c.(3454-3456)gAg>gGg	p.E1152G		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1180					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTATTACAAGAGAATGAACAG	0.343000														94			4		0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156742689	156742689	+	Silent	SNP	G	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr7:156742689G>A	uc003wmy.3	+	0	273	c.258G>A	c.(256-258)agG>agA	p.R86R		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	86	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGGAACTGAGGAAGGAGAAGC	0.701000														4			6		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118497	118497	+	RNA	SNP	G	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chrGL000205.1:118497G>T	uc002kgk.4	+	0		c.1875G>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AATGCCGGAAGGTAATTATTC	0.453000														22			4		0.00024832	0.000258456	1	1	0
ZNF319	57567	broad.mit.edu	37	16	58031971	58031971	+	Missense_Mutation	SNP	G	C	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:58031971G>C	uc002emx.1	-	1	822	c.199C>G	c.(199-201)Ccc>Gcc	p.P67A	ZNF319_uc021tjd.1_Missense_Mutation_p.P67A	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	67	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCCTGCAGGGGTGCGTGTTGT	0.692000														22			12		0	0	1	0	0
RHPN1	114822	broad.mit.edu	37	8	144462920	144462920	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:144462920T>C	uc003yyb.3	+	10	1511	c.1378T>C	c.(1378-1380)Ttc>Ctc	p.F460L		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	485	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TGAGGATGACTTCTGTGAGGC	0.672000														230			5		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149480236	149480236	+	Silent	SNP	C	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr7:149480236C>T	uc010lpk.3	+	15	2118	c.2118C>T	c.(2116-2118)gaC>gaT	p.D706D	SSPO_uc010lpl.1_Silent_p.D41D	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	706	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCAGCAGGACGACTTCCTGA	0.592000														220			6		0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89408222	89408222	+	Silent	SNP	C	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:89408222C>T	uc003hrt.3	+	14	2007	c.1854C>T	c.(1852-1854)gaC>gaT	p.D618D	HERC5_uc011cdm.2_Silent_p.D256D	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	618					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATTTTTAGGACGCTTCAGAAA	0.338000														153			104		0	0	1	0	0
LIPT1	51601	broad.mit.edu	37	2	99778524	99778524	+	Missense_Mutation	SNP	A	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:99778524A>T	uc002szp.4	+	2	265	c.227A>T	c.(226-228)cAg>cTg	p.Q76L	MRPL30_uc002szl.1_Intron|LIPT1_uc002szm.4_Missense_Mutation_p.Q35L|LIPT1_uc002szn.4_Missense_Mutation_p.Q35L|LIPT1_uc002szo.4_Missense_Mutation_p.Q35L|LIPT1_uc002szq.4_Missense_Mutation_p.Q35L|MRPL30_uc002szr.3_Intron|LIPT1_uc021vln.1_Missense_Mutation_p.Q35L|LIPT1_uc021vlo.1_Missense_Mutation_p.Q35L|LIPT1_uc021vlp.1_Missense_Mutation_p.Q35L	NM_145199	NP_660200	Q9Y234	LIPT_HUMAN	Homo sapiens lipoyltransferase 1 (LIPT1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	35					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	CTCATTTTACAGTCAATTTCC	0.383000														170			4		0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131486934	131486934	+	Silent	SNP	G	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:131486934G>A	uc002trv.2	+	0	292	c.210G>A	c.(208-210)ctG>ctA	p.L70L		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	70						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L69M(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GCCCCCTGCTGCTGGTGACCA	0.632000														66			18		0	0	1	0	0
TBK1	29110	broad.mit.edu	37	12	64873884	64873884	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:64873884T>C	uc001ssc.2	+	6	953	c.794T>C	c.(793-795)gTt>gCt	p.V265A		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	265	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		GACATGCCTGTTTCTTGCAGT	0.398000														233			5		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79025641	79025641	+	Silent	SNP	A	G	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:79025641A>G	uc003kgc.3	+	1	1125	c.1053A>G	c.(1051-1053)gcA>gcG	p.A351A		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	351						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTGGCAGAGCAGAACAAGGAA	0.453000														131			5		0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136076575	136076575	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:136076575C>T	uc003era.1	-	27	3344	c.3052G>A	c.(3052-3054)Gac>Aac	p.D1018N	STAG1_uc003erb.1_Missense_Mutation_p.D1018N	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	1018					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTCTTTTTGTCCTGTCGAAGA	0.294000														104			25		0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16525737	16525737	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:16525737A>G	uc001ayc.1	-	14	2296	c.2159T>C	c.(2158-2160)gTt>gCt	p.V720A	ARHGEF19_uc009voo.1_Missense_Mutation_p.V73A	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	720	SH3.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		AACACACTGAACCTGGGGGCA	0.607000														87			4		0	0	1	0	0
TUBB7P	56604	broad.mit.edu	37	4	190904016	190904016	+	Missense_Mutation	SNP	T	G	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:190904016T>G	uc011clg.2	-	3	969	c.751A>C	c.(751-753)Atg>Ctg	p.M251L				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	323					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										ACCTCCCTCATGGGCATGCGA	0.527000														62			7		0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000294	46000294	+	Silent	SNP	C	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr21:46000294C>T	uc002zfl.1	-	0	188	c.162G>A	c.(160-162)gcG>gcA	p.A54A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	54	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GCTCACAGGCCGCCTGGCAGC	0.716000														15			3		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98609129	98609129	+	Missense_Mutation	SNP	G	A	A	rs145619183		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr7:98609129G>A	uc003upp.3	+	70	11475	c.11266G>A	c.(11266-11268)Gcc>Acc	p.A3756T	TRRAP_uc011kis.2_Missense_Mutation_p.A3727T|TRRAP_uc003upr.3_Missense_Mutation_p.A3462T|TRRAP_uc003ups.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3756	PI3K/PI4K.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GATTGCGGTCGCCCGGTGCTT	0.612000														87			48		0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38127148	38127148	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:38127148C>A	uc002ogv.1	-	5	810	c.294G>T	c.(292-294)atG>atT	p.M98I	ZFP30_uc002ogw.1_Missense_Mutation_p.M98I|ZFP30_uc002ogx.1_Missense_Mutation_p.M98I|ZFP30_uc010xtt.1_Missense_Mutation_p.M97I	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGATAAGTTCATTTCATAAA	0.343000														172			29		1.80694e-10	2.00335e-10	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118505983	118505983	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:118505983A>G	uc010jcl.1	+	23	5678	c.5497A>G	c.(5497-5499)Aca>Gca	p.T1833A	DMXL1_uc003ksd.2_Missense_Mutation_p.T1833A|DMXL1_uc021ycw.1_Missense_Mutation_p.T1660A	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1833										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATCATCTGATACATTTTCCAC	0.348000														86			4		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171709233	171709233	+	Silent	SNP	A	C	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:171709233A>C	uc002ugi.3	+	12	1616	c.1194A>C	c.(1192-1194)tcA>tcC	p.S398S	GAD1_uc010fqc.3_Silent_p.S17S	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	398					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGGCCAACTCAGTCACCTGGA	0.507000														81			16		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66942345	66942345	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:66942345T>C	uc002eql.3	-	17	2634	c.2440A>G	c.(2440-2442)Aag>Gag	p.K814E	CDH16_uc010cdy.3_Missense_Mutation_p.K792E|CDH16_uc021tjx.1_Missense_Mutation_p.K775E|CDH16_uc002eqm.3_Missense_Mutation_p.K717E	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	814					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K814N(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCCGGGTCCTTCTTCCTTGAC	0.577000														91			4		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10107113	10107113	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:10107113G>A	uc003buw.3	+	23	2282	c.2204G>A	c.(2203-2205)cGg>cAg	p.R735Q	FANCD2_uc003bux.1_Missense_Mutation_p.R735Q|FANCD2_uc003buy.1_Missense_Mutation_p.R735Q|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	735					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCGTATTTCCGGTTACTGAGA	0.443000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					75			52		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049341	9049341	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:9049341T>C	uc002mkp.3	-	4	32494	c.32290A>G	c.(32290-32292)Acg>Gcg	p.T10764A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10766	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGCTATCGTCTTTGGTTCA	0.478000														211			5		0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	288028	288028	+	Missense_Mutation	SNP	C	T	T	rs148329482		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:288028C>T	uc002loh.3	-	1	362	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	PPAP2C_uc002loi.3_Missense_Mutation_p.V66I|PPAP2C_uc002loj.3_Missense_Mutation_p.V10I	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	66					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGGATGACGGTGGCCGTG	0.642000														120			24		0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43746626	43746626	+	Splice_Site	SNP	A	G	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:43746626A>G	uc003owh.3	+	5	1431	c.933_splice	c.e5-1	p.R311_splice	VEGFA_uc003owd.3_Splice_Site_p.R311_splice|VEGFA_uc010jyx.3_Intron|VEGFA_uc003owf.3_Splice_Site_p.R311_splice|VEGFA_uc003owg.3_Splice_Site_p.R311_splice|VEGFA_uc003owe.3_Splice_Site_p.R311_splice|VEGFA_uc021yzu.1_Splice_Site_p.R310_splice|VEGFA_uc003owj.3_Splice_Site_p.R311_splice|VEGFA_uc003owi.3_Splice_Site_p.R311_splice|VEGFA_uc003owk.3_Splice_Site	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	131					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	CCCATTGCAGACCAAAGAAAG	0.438000														140			4		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768447	31768447	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:31768447A>G	uc002nsy.4	-	1	2317	c.2252T>C	c.(2251-2253)tTc>tCc	p.F751S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	751					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCTCATCTTGAAAAGCATGCT	0.602000														52			40		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799215	39799215	+	Missense_Mutation	SNP	A	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:39799215A>T	uc021olw.1	+	0	2275	c.2275A>T	c.(2275-2277)Agt>Tgt	p.S759C	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2324					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTGTGCCAAGTCACACTGC	0.403000														61			27		0	0	1	0	0
DAZL	1618	broad.mit.edu	37	3	16630168	16630168	+	Nonstop_Mutation	SNP	C	G	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:16630168C>G	uc003cba.3	-	10	1235	c.947G>C	c.(946-948)tGa>tCa	p.*316S	DAZL_uc003cbb.3_Nonstop_Mutation_p.*296S	NM_001190811	NP_001177740	Q92904	DAZL_HUMAN	Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA.	0					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						CCAGGAGGATCAAACAGATTT	0.338000														225			25		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117157	117157	+	RNA	SNP	G	C	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chrGL000205.1:117157G>C	uc002kgk.4	+	0		c.535G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CTTTTGATCTGAGAGTTGCAA	0.448000														44			9		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76917244	76917244	+	Missense_Mutation	SNP	C	G	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:76917244C>G	uc001oyb.2	+	40	6011	c.5739C>G	c.(5737-5739)gaC>gaG	p.D1913E	MYO7A_uc001oyc.2_Missense_Mutation_p.D1875E|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1913	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATGACACTGACGAGGTGAGGG	0.607000														54			35		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179426292	179426292	+	Silent	SNP	A	G	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:179426292A>G	uc021vsy.1	-	274	77088	c.76863T>C	c.(76861-76863)taT>taC	p.Y25621Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y19316Y|TTN_uc021vta.1_Silent_p.Y19249Y|TTN_uc021vtb.1_Silent_p.Y19124Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26548	Fibronectin type-III 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCAAGATGATAGCCAATTA	0.418000														164			4		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	110221771	110221771	+	Missense_Mutation	SNP	C	G	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:110221771C>G	uc021xqo.1	-	1	391	c.335G>C	c.(334-336)aGa>aCa	p.R112T	COL25A1_uc003hze.1_Missense_Mutation_p.R112T|COL25A1_uc021xqp.1_Missense_Mutation_p.R112T|COL25A1_uc003hzg.3_Missense_Mutation_p.R112T|COL25A1_uc003hzh.1_Missense_Mutation_p.R112T	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	112		Cleavage; by furin.				collagen|extracellular space	beta-amyloid binding|heparin binding	p.A111T(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AGGTGCTTCTCTTGCGATTCT	0.383000														167			8		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118017	118017	+	RNA	SNP	G	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chrGL000205.1:118017G>A	uc002kgk.4	+	0		c.1395G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCAGAATACGAGGGGCAGCC	0.562000														64			5		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131593399	131593399	+	Missense_Mutation	SNP	G	A	A	rs141128784		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:131593399G>A	uc010tbm.2	+	18	2673	c.2114G>A	c.(2113-2115)cGt>cAt	p.R705H	GPR133_uc001uit.4_Missense_Mutation_p.R673H|GPR133_uc009zyo.3_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.R192H|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	673					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W705C(1)|p.W705*(1)|p.R673H(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGCAAGCACCGTTACTACTat	0.607000														130			7		0	0	1	0	0
CDKN1B	1027	broad.mit.edu	37	12	12871758	12871758	+	Splice_Site	SNP	G	C	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:12871758G>C	uc001rat.2	+	2	948	c.476_splice	c.e2-1	p.D159_splice		NM_004064	NP_004055	P46527	CDN1B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.	159					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|autophagic cell death|cell cycle arrest|cellular response to lithium ion|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCTGCGCTTAGATTCTTCTAC	0.438000														57			5		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181970	57181970	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:57181970G>A	uc003hbk.2	+	7	2693	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K	KIAA1211_uc010iha.2_Missense_Mutation_p.E761K|KIAA1211_uc011bzz.1_Missense_Mutation_p.E678K|KIAA1211_uc003hbm.1_Missense_Mutation_p.E654K	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	768										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGTGTTCGCGAGCTCGGGAA	0.602000														39			23		0	0	1	0	0
NSUN5P1	155400	broad.mit.edu	37	7	75045328	75045328	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr7:75045328C>T	uc003udh.1	+	1	249	c.206C>T	c.(205-207)gCa>gTa	p.A69V						Homo sapiens NOP2/Sun domain family, member 5 pseudogene 1 (NSUN5P1), non-coding RNA.											large_intestine(1)|lung(1)	2						CATGCCCTGGCAGGGTTCCAG	0.622000														162			4		0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35226107	35226107	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:35226107A>G	uc001mvu.3	+	9	1636	c.1202A>G	c.(1201-1203)gAa>gGa	p.E401G	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Missense_Mutation_p.E358G|CD44_uc001mvw.3_Intron|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Intron|CD44_uc010res.2_Intron|CD44_uc010ret.2_Intron	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	401	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	ACCCAGAAGGAACAGTGGTTT	0.453000														70			4		0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65409950	65409950	+	Missense_Mutation	SNP	G	C	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:65409950G>C	uc001ofb.2	+	3	991	c.824G>C	c.(823-825)gGc>gCc	p.G275A	SIPA1_uc010rom.1_Missense_Mutation_p.G275A|SIPA1_uc001ofd.2_Missense_Mutation_p.G275A	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	275					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACACTCCGTGGCACCATCTCG	0.682000														34			20		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44150954	44150954	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:44150954A>G	uc003owt.1	+	20	2154	c.2116A>G	c.(2116-2118)Agg>Ggg	p.R706G	CAPN11_uc011dvn.2_3'UTR	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	706	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGTTTCCTGAGGCTAAAGAC	0.547000														68			5		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109805471	109805471	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr1:109805471G>T	uc001dxa.4	+	6	4649	c.4588G>T	c.(4588-4590)Gac>Tac	p.D1530Y		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1530	Laminin G-like 1.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGGGTGCCTGACCTGCCCGA	0.642000														93			41		1.81118e-26	2.05267e-26	1	1	0
HEXDC	284004	broad.mit.edu	37	17	80377733	80377733	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr17:80377733C>A	uc002kev.4	+	1	474	c.58C>A	c.(58-60)Cca>Aca	p.P20T	C17orf101_uc002ket.2_5'Flank|C17orf101_uc010dip.2_5'Flank|C17orf101_uc002keu.2_5'Flank|HEXDC_uc002kew.3_Missense_Mutation_p.P20T	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	20					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TAAAGGAGCTCCACCAAAGGT	0.428000														158			4		2.56e-06	2.72e-06	1	1	0
LCT	3938	broad.mit.edu	37	2	136558375	136558375	+	Silent	SNP	G	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr2:136558375G>A	uc002tuu.1	-	11	4679	c.4668C>T	c.(4666-4668)gtC>gtT	p.V1556V		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1556	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCCTATTGGAGACTCCTGGAA	0.507000														42			4		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92543184	92543184	+	Nonsense_Mutation	SNP	T	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:92543184T>A	uc001pdj.4	+	11	9440	c.9423T>A	c.(9421-9423)taT>taA	p.Y3141*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3141	Cadherin 29.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTGTGTCTATGAGAACACAG	0.527000										TCGA Ovarian(4;0.039)				132			9		0	0	1	0	0
KREMEN1	83999	broad.mit.edu	37	22	29517360	29517360	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr22:29517360G>T	uc011akm.1	+	3	421	c.368G>T	c.(367-369)gGc>gTc	p.G123V	KREMEN1_uc003ael.3_Missense_Mutation_p.G123V|KREMEN1_uc011akn.2_Missense_Mutation_p.G6V	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA.	121	WSC.				Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						GGAAACCTTGGCTGCTACAAG	0.428000														50			19		8.34094e-07	9.0508e-07	1	1	0
CACNA1D	776	broad.mit.edu	37	3	53844075	53844075	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:53844075G>T	uc003dgv.4	+	46	6105	c.5942G>T	c.(5941-5943)tGg>tTg	p.W1981L	CACNA1D_uc003dgu.4_Missense_Mutation_p.W2001L|CACNA1D_uc003dgy.4_Missense_Mutation_p.W1957L|CACNA1D_uc003dgw.4_Missense_Mutation_p.W1648L|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1981					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACCCGGTCGTGGGCCACCCCT	0.612000														109			4		0.000602214	0.000614259	1	1	0
ITGAD	3681	broad.mit.edu	37	16	31421837	31421837	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:31421837C>T	uc010cap.1	+	10	1254	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F	ITGAD_uc002ebv.1_Missense_Mutation_p.S402F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	402					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGAGGGACTCTTACCTGGGT	0.597000														87			3		0	0	1	0	0
FKTN	2218	broad.mit.edu	37	9	108358893	108358893	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr9:108358893G>T	uc004bcr.3	+	3	336	c.120G>T	c.(118-120)ttG>ttT	p.L40F	FKTN_uc011lvx.2_Missense_Mutation_p.L40F|FKTN_uc004bcs.3_Missense_Mutation_p.L40F|FKTN_uc011lvy.2_Missense_Mutation_p.L40F|FKTN_uc010mtm.3_5'UTR	NM_001079802	NP_006722	O75072	FKTN_HUMAN	Homo sapiens fukutin (FKTN), transcript variant 1, mRNA.	40					muscle organ development|negative regulation of JNK cascade|negative regulation of cell proliferation|nervous system development|regulation of protein glycosylation	Golgi membrane|cis-Golgi network|endoplasmic reticulum|extracellular space|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GAGCTGGTTTGTCAAAATCCA	0.323000														71			4		0.00116845	0.00116845	1	1	0
MUC2	4583	broad.mit.edu	37	11	1092953	1092953	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr11:1092953C>T	uc001lsx.1	+	30	4799	c.4772C>T	c.(4771-4773)aCg>aTg	p.T1591M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1607	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding	p.T1590N(2)|p.T1590I(2)|p.T1590T(2)|p.T1592M(1)|p.T1591I(1)|p.T1591M(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	accaccactacggtgacccca	0.627000														38			3		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19175230	19175230	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr22:19175230G>A	uc021wle.1	-	28	4520	c.4445C>T	c.(4444-4446)gCa>gTa	p.A1482V	CLTCL1_uc021wld.1_Intron|CLTCL1_uc021wlc.1_3'UTR|CLTCL1_uc021wlf.1_Intron|CLTCL1_uc011agw.1_Missense_Mutation_p.A1461V|CLTCL1_uc011agt.2_Missense_Mutation_p.A273V|CLTCL1_uc011agu.2_Intron	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1482	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATCGATAGATGCCCTTAAGCC	0.522000			T	?	ALCL									73			24		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14724245	14724246	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr3:14724245_14724246insA	uc003byy.3	+	2	477_478	c.25_26insA	c.(25-27)gaafs	p.E9fs	C3orf20_uc003byz.3_Intron|C3orf20_uc003bza.3_Intron|C3orf20_uc003byx.2_Frame_Shift_Ins_p.E9fs	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	9						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAGTAACCTAGAATTATATCAG	0.480													---	61	---	---	16	---					
CCDC158	339965	broad.mit.edu	37	4	77305357	77305357	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr4:77305357delT	uc003hkb.4	-	4	763	c.610delA	c.(610-612)atafs	p.I204fs	CCDC158_uc003hkd.3_Frame_Shift_Del_p.I204fs	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	204										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTTCACATATTTTTTTGCCT	0.393													---	186	---	---	7	---					
ZFR	51663	broad.mit.edu	37	5	32444365	32444372	+	Frame_Shift_Del	DEL	GCCCCGCT	-	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr5:32444365_32444372delGCCCCGCT	uc003jhr.1	-	1	180_187	c.100_107delAGCGGGGC	c.(100-108)agcggggcgfs	p.S34fs	ZFR_uc010iun.1_Frame_Shift_Del_p.S34fs	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	34					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cgccgccgccgccCCGCTGTGGGTGAAT	0.668													---	94	---	---	14	---					
DST	667	broad.mit.edu	37	6	56422170	56422171	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:56422170_56422171insA	uc003pcy.4	-	39	6825_6826	c.6717_6718insT	c.(6715-6720)cttgggfs	p.L2239fs		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	4651					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GACAAGGGCCCAAGAACACTGA	0.426													---	166	---	---	7	---					
SAMD5	389432	broad.mit.edu	37	6	147830410	147830411	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr6:147830410_147830411insC	uc003qmc.2	+	0	583_584	c.346_347insC	c.(346-348)gccfs	p.A116fs		NM_001030060	NP_001025231	Q5TGI4	SAMD5_HUMAN	Homo sapiens sterile alpha motif domain containing 5 (SAMD5), mRNA.	116													Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		CCACACGACCGCCCCCCGCAGC	0.743													---	5	---	---	3	---					
C7orf25	79020	broad.mit.edu	37	7	42949523	42949524	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr7:42949523_42949524delCT	uc003thx.4	-	1	1635_1636	c.1150_1151delAG	c.(1150-1152)aggfs	p.R384fs	C7orf25_uc010kxq.3_Frame_Shift_Del_p.R326fs|C7orf25_uc010kxr.3_Frame_Shift_Del_p.R384fs|C7orf25_uc022ace.1_Frame_Shift_Del_p.R326fs	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.	326								p.R326fs*6(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CACAGTGGCCCTCTCTCTCTCC	0.455													---	195	---	---	7	---					
CLN8	2055	broad.mit.edu	37	8	1728652	1728652	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:1728652delG	uc003wpo.4	+	2	1085	c.780delG	c.(778-780)ccgfs	p.P260fs		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA.	260	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	ER-Golgi intermediate compartment membrane|endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TTCTCAATCCGGTGGACTGGA	0.547													---	97	---	---	21	---					
MTMR9	66036	broad.mit.edu	37	8	11162509	11162509	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:11162509delA	uc003wtm.3	+	3	975	c.577delA	c.(577-579)aaafs	p.K193fs	MTMR9_uc010lrx.3_Frame_Shift_Del_p.K86fs|MTMR9_uc011kxa.2_Frame_Shift_Del_p.K108fs	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	193	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTATTACCACAAAAAAAATGG	0.453													---	129	---	---	7	---					
PRKDC	5591	broad.mit.edu	37	8	48748950	48748951	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr8:48748950_48748951insC	uc003xqi.3	-	58	7953_7954	c.7896_7897insG	c.(7894-7899)gggcagfs	p.G2632fs	PRKDC_uc003xqj.3_Frame_Shift_Ins_p.G2632fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2633	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCCCTTATCTGCCCTGCCACTG	0.609								Non-homologous end-joining					---	409	---	---	7	---					
ORAI1	84876	broad.mit.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	-	-	rs72194352		TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr12:122064774_122064779delCCGCCA	uc021rff.1	+	0	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.	47	Pro-rich.				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748													---	20	---	---	14	---					
CLMN	79789	broad.mit.edu	37	14	95662949	95662949	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr14:95662949delT	uc001yef.2	-	9	2710	c.2594delA	c.(2593-2595)aagfs	p.K865fs		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	865						integral to membrane	actin binding	p.K865fs*10(2)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCTTTTTTCCTTTTTTTTACT	0.408													---	117	---	---	7	---					
OR4F4	26682	broad.mit.edu	37	15	102462595	102462595	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr15:102462595delA	uc002cdf.1	-	0	668	c.668delT	c.(667-669)ttafs	p.L223fs		NM_001004195	NP_001004195	Q96R69	OR4F4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 4 (OR4F4), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CGACTTATCTAAAGGGCAATG	0.413													---	3163	---	---	7	---					
WDR59	79726	broad.mit.edu	37	16	74976691	74976691	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr16:74976691delT	uc002fdh.1	-	6	581	c.479delA	c.(478-480)aatfs	p.N160fs	WDR59_uc002fdi.3_Frame_Shift_Del_p.N160fs|WDR59_uc021tli.1_Frame_Shift_Del_p.N139fs	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	160										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCAGTTAGCATTTTTTTTATT	0.502													---	179	---	---	8	---					
SHISA7	729956	broad.mit.edu	37	19	55953903	55953904	+	In_Frame_Ins	INS	-	GGG	GGG			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chr19:55953903_55953904insGGG	uc002qkz.3	-	0	327_328	c.327_328insCCC	c.(325-330)insCCC	p.109_110insP		NM_001145176	NP_001138648	A6NL88	SHSA7_HUMAN	Homo sapiens shisa homolog 7 (Xenopus laevis) (SHISA7), mRNA.	109						integral to membrane				skin(1)	1						CGGTAGTGGCAGGTGCCACAGC	0.678													---	41	---	---	7	---					
USP9Y	8287	broad.mit.edu	37	Y	14888667	14888667	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KN-8430-01A-11D-2310-10	TCGA-KN-8430-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd4434-02c9-4016-bb89-86bec4317489	0e26ad23-4697-4346-bb99-8cddd8d612c7	g.chrY:14888667delA	uc004fst.1	+	18	3457	c.2512delA	c.(2512-2514)aaafs	p.K838fs	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	838					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGATGGTGACAAAAACAGCAT	0.328													---	4	---	---	2	---					
