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
FGF3	2248	broad.mit.edu	37	11	69625251	69625251	+	Missense_Mutation	SNP	C	C	T	rs148203315		TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr11:69625251C>T	uc001oph.3	-	2	1033	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	181					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GTCCAGCACGCGGGGCAGGAA	0.687000													4	66					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438722	58438722	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr19:58438722T>A	uc002qqs.1	-	3	1119	c.827A>T	c.(826-828)cAt>cTt	p.H276L	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.H191L	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AACTCGCTGATGCTGAACAAG	0.433000													27	113					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832493	101832493	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr11:101832493C>G	uc001pgm.3	+	5	997	c.727C>G	c.(727-729)Cag>Gag	p.Q243E	KIAA1377_uc001pgn.3_Missense_Mutation_p.Q199E|KIAA1377_uc010run.2_Missense_Mutation_p.Q44E|KIAA1377_uc009yxa.1_Missense_Mutation_p.Q44E	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	243							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGAAGTTAATCAGATAACCAA	0.313000													12	53					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701995	179701995	+	Silent	SNP	A	A	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr2:179701995A>T	uc002une.2	-	22	4069	c.3951T>A	c.(3949-3951)gcT>gcA	p.A1317A	CCDC141_uc002unf.1_Silent_p.A796A	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	742							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTGGATGTTCAGCACTGATTC	0.493000													4	185					0	0	1	0	0
TSPAN16	26526	broad.mit.edu	37	19	11408999	11408999	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr19:11408999G>A	uc002mqv.1	+	1	401	c.251G>A	c.(250-252)aGa>aAa	p.R84K	TSPAN16_uc002mqu.1_Non-coding_Transcript	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	84						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AAAGAGAGCAGAGGCACGCTC	0.522000													34	142					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45785630	45785630	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr22:45785630C>T	uc003bgc.3	-	9	1745	c.1693G>A	c.(1693-1695)Gct>Act	p.A565T	SMC1B_uc003bgd.3_Missense_Mutation_p.A565T|SMC1B_uc003bge.1_Missense_Mutation_p.A348T	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	565	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCAGGTTCAGCTCTTTCCTCC	0.388000													25	98					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9242617	9242617	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr12:9242617T>A	uc001qvk.1	-	20	2712	c.2599A>T	c.(2599-2601)Aat>Tat	p.N867Y	A2M_uc009zgk.1_Missense_Mutation_p.N717Y	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	867					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AAATTCACATTTCCTGAAAAA	0.438000													26	103					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701628	181701628	+	Silent	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:181701628G>A	uc009wxt.3	+	19	2601	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A	CACNA1E_uc001gow.3_Silent_p.A802A|CACNA1E_uc009wxs.3_Silent_p.A783A|CACNA1E_uc001gox.1_Silent_p.A28A	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	802					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGAGGAGGCGCCGACCATGa	0.657000													36	234					0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66384484	66384484	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr11:66384484T>C	uc001oit.3	+	0	432	c.293T>C	c.(292-294)cTc>cCc	p.L98P	RBM14_uc009yri.3_Missense_Mutation_p.L98P|RBM14_uc009yrh.3_Missense_Mutation_p.L98P|RBM14_uc009yrj.3_5'UTR|RBM14_uc009yrk.3_Missense_Mutation_p.L98P|RBM14_uc021qmb.1_Missense_Mutation_p.L98P	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 14 (RBM14), transcript variant 1, mRNA.	98	RRM 2.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGCGCAGCCTCTTCGAGCGC	0.647000													7	40					0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123342922	123342922	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr12:123342922G>A	uc001udj.1	+	19	2049	c.1990G>A	c.(1990-1992)Gcc>Acc	p.A664T	HIP1R_uc001udk.1_5'UTR	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	664					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGCCCAGGAGGCCTTGGATGC	0.687000													46	146					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179188	90179188	+	Silent	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:90179188T>C	uc001dnl.4	+	2	1301	c.1059T>C	c.(1057-1059)taT>taC	p.Y353Y		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	353						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CCTTTGAGTATGTCCGTCAGG	0.388000													33	100					0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164061509	164061509	+	Silent	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr4:164061509T>C	uc003iqj.3	-	4	938	c.744A>G	c.(742-744)gcA>gcG	p.A248A	NAF1_uc010iqw.1_Silent_p.A248A	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	248					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAATGGATGTGCAACAGGTC	0.299000													4	29					0	0	1	0	0
C1orf213	148898	broad.mit.edu	37	1	23696043	23696043	+	Silent	SNP	A	A	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:23696043A>C	uc001bgw.3	+	0	580	c.253A>C	c.(253-255)Aga>Cga	p.R85R	ZNF436_uc001bgt.3_5'Flank|ZNF436_uc001bgu.3_5'UTR|C1orf213_uc021oif.1_Intron					Homo sapiens chromosome 1 open reading frame 213 (C1orf213), transcript variant 1, non-coding RNA.											kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GGCGAAGCCCAGATATCGTAG	0.562000													30	87					0	0	1	0	0
HTR7P1	93164	broad.mit.edu	37	12	13154790	13154790	+	RNA	SNP	G	G	C	rs1291363	by1000genomes	TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr12:13154790G>C	uc010shq.2	+	0		c.1415G>C			HEBP1_uc001rbd.3_5'Flank|HTR7P1_uc001rbh.3_Intron					Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 (HTR7P1), non-coding RNA.																		CCAACTACCTGATCGTGTCCA	0.607000													4	142					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35500151	35500151	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr19:35500151A>C	uc010xsf.1	+	1	152	c.152A>C	c.(151-153)gAt>gCt	p.D51A	GRAMD1A_uc002nxi.1_Missense_Mutation_p.D133A|GRAMD1A_uc010xse.1_Missense_Mutation_p.D46A|GRAMD1A_uc002nxk.2_Missense_Mutation_p.D46A|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	46						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)			AAGGGATCAGATAGCTCCTCA	0.647000													17	91					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43817788	43817788	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr15:43817788A>G	uc001zrt.3	+	3	4584	c.4117A>G	c.(4117-4119)Act>Gct	p.T1373A		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1373						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAAAGACAAAACTCTGGAGCA	0.443000													51	96					0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31974671	31974671	+	Missense_Mutation	SNP	G	G	A	rs142924787	by1000genomes	TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr6:31974671G>A	uc021yve.1	+	2	1118	c.556G>A	c.(556-558)Gtg>Atg	p.V186M				Q5ST44	Q5ST44_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA.	182							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										AATTGTGGACGTGATTCCCTT	0.542000													5	143					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48604393	48604393	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:48604393C>A	uc003ctz.2	-	109	8174	c.8173G>T	c.(8173-8175)Ggg>Tgg	p.G2725W		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2725	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGGTGGCCCTGGGGGACCA	0.617000													13	54					1.49906e-05	1.60127e-05	1	1	0
IKZF2	22807	broad.mit.edu	37	2	213872649	213872649	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr2:213872649T>C	uc002vem.3	-	7	1185	c.1016A>G	c.(1015-1017)cAc>cGc	p.H339R	IKZF2_uc010fuu.3_Missense_Mutation_p.H194R|IKZF2_uc002vej.3_Missense_Mutation_p.H286R|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.H265R|IKZF2_uc002vel.3_Missense_Mutation_p.H260R|IKZF2_uc010fuw.3_Missense_Mutation_p.H113R|IKZF2_uc010fux.3_Missense_Mutation_p.H113R|IKZF2_uc010fuy.3_Missense_Mutation_p.H267R|IKZF2_uc002ven.3_Missense_Mutation_p.H313R|IKZF2_uc002vei.3_Missense_Mutation_p.H117R	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GCTTGGCGGGTGCTGCATCAG	0.498000													35	146					0	0	1	0	0
EIF4E2	9470	broad.mit.edu	37	2	233428989	233428989	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr2:233428989G>T	uc002vta.3	+	3	381	c.303G>T	c.(301-303)atG>atT	p.M101I	EIF4E2_uc002vtb.1_Missense_Mutation_p.M101I|EIF4E2_uc010zmi.1_Missense_Mutation_p.M56I	NM_004846	NP_004837	O60573	IF4E2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 2 (EIF4E2), mRNA.	101					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATAGCCACATGGTACGTCCTG	0.458000													38	155					1.48734e-19	1.76231e-19	1	1	0
SHANK3	85358	broad.mit.edu	37	22	51159826	51159826	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr22:51159826G>A	uc003bne.1	+	21	3613	c.3613G>A	c.(3613-3615)Gag>Aag	p.E1205K	SHANK3_uc003bnf.1_Missense_Mutation_p.E652K	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1205										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GAAGTCACCCGAGGACAAGAA	0.662000													30	128					0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14183165	14183165	+	Missense_Mutation	SNP	C	C	T	rs63750743		TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:14183165C>T	uc003byk.2	+	11	1327	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L		NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	358			S -> L (in ARVD5).			Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						GTGGCCACCTCGCTGACCCTG	0.602000													10	117					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880641	142880641	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr7:142880641G>A	uc011ksw.2	+	0	130	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	44					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTTACTTGCTGAATACCTCAT	0.413000													11	131					0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23546696	23546696	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr20:23546696T>G	uc002wtk.4	-	1	568	c.269A>C	c.(268-270)gAg>gCg	p.E90A		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	Homo sapiens cystatin 9-like (CST9L), mRNA.	90						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CAGCAGTAGCTCCATTGAGAA	0.468000													55	224					0	0	1	0	0
BCL2L2-PABPN1	100529063	broad.mit.edu	37	14	23776985	23776985	+	Silent	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr14:23776985C>A	uc001wjh.4	+	2	238	c.9C>A	c.(7-9)acC>acA	p.T3T	BCL2L2-PABPN1_uc001wjg.4_Silent_p.T3T|BCL2L2-PABPN1_uc021rqx.1_Silent_p.T3T|BCL2L2-PABPN1_uc001wji.4_Silent_p.T3T	NM_001199864	NP_001186793			Homo sapiens BCL2L2-PABPN1 readthrough (BCL2L2-PABPN1), mRNA.																		GGATGGCGACCCCAGCCTCGG	0.562000													21	44					1.55469e-16	1.79682e-16	1	1	0
PTPRB	5787	broad.mit.edu	37	12	71002988	71002988	+	Silent	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr12:71002988G>A	uc001swb.4	-	1	216	c.186C>T	c.(184-186)acC>acT	p.T62T	PTPRB_uc010sto.2_Silent_p.T62T|PTPRB_uc010stp.2_Silent_p.T62T|PTPRB_uc001swc.4_Silent_p.T280T|PTPRB_uc001swa.4_Silent_p.T280T|PTPRB_uc001swd.4_Silent_p.T279T|PTPRB_uc009zrr.2_Silent_p.T159T|PTPRB_uc001swe.3_Silent_p.T280T	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	62	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CGGCCCCCAGGGTGTCACTGC	0.498000													62	238					0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	98893529	98893529	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr4:98893529T>C	uc003htt.2	-	6	925	c.835A>G	c.(835-837)Aag>Gag	p.K279E		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	279			K -> R (in dbSNP:rs7654193).							cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		TTCTGTTTCTTTGAGCAGATA	0.358000													32	131					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356957	37356957	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr20:37356957T>C	uc002xjc.3	+	1	1516	c.1253T>C	c.(1252-1254)tTc>tCc	p.F418S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	418					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGCGCCTTTTTCCCGGCCTGC	0.632000													12	60					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8919107	8919107	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr2:8919107T>A	uc002qzc.2	-	18	2715	c.2533A>T	c.(2533-2535)Aat>Tat	p.N845Y	KIDINS220_uc010yiv.1_Missense_Mutation_p.N611Y|KIDINS220_uc002qzd.2_Missense_Mutation_p.N803Y|KIDINS220_uc010yiw.1_Missense_Mutation_p.N846Y	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	845	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCACGACTATTAAGGAACACA	0.418000													3	93					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913359	77913359	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chrX:77913359G>A	uc022bzi.1	-	0	559	c.559C>T	c.(559-561)Cct>Tct	p.P187S	ZCCHC5_uc004edc.1_Missense_Mutation_p.P187S	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	187	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCCTGGGGAGGTGGAAGCTCA	0.537000													16	22					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133342187	133342187	+	Splice_Site	SNP	G	G	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr9:133342187G>C	uc010mza.3	+	7	1231	c.723_splice	c.e7+1	p.K241_splice	ASS1_uc004bzm.3_Splice_Site_p.K165_splice|ASS1_uc004bzn.3_Splice_Site_p.K165_splice	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	165					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GTACGCAAAGGTATGGCCGAG	0.612000													24	152					0	0	1	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197393	39197393	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr17:39197393T>C	uc002hvw.1	-	0	321	c.257A>G	c.(256-258)tAc>tGc	p.Y86C		NM_030967	NP_112229	Q07627	KRA11_HUMAN	Homo sapiens keratin associated protein 1-1 (KRTAP1-1), mRNA.	86			Missing (in allele KAP1.7).			extracellular region|keratin filament		p.Y86C(8)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGTCTGGTAGCAGCTTGG	0.587000													3	110					0	0	1	0	0
AK309255	0	broad.mit.edu	37	15	28882585	28882585	+	RNA	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr15:28882585A>G	uc010aza.1	+	4		c.1078A>G			AK309255_uc010azb.1_Non-coding_Transcript					Homo sapiens cDNA, FLJ97818.																		TTGCAGACTCATCAAGAACAG	0.383000													24	70					0	0	1	0	0
LOC389765	389765	broad.mit.edu	37	9	88455692	88455692	+	RNA	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr9:88455692G>A	uc004aog.2	+	7		c.1536G>A								Homo sapiens kinesin family member 27 pseudogene (LOC389765), non-coding RNA.																		GGATTCAGAAGCCAGACTCTG	0.338000													24	109					0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15956933	15956933	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:15956933T>G	uc001awx.2	+	2	595	c.382T>G	c.(382-384)Tct>Gct	p.S128A	DDI2_uc001aww.3_Missense_Mutation_p.S128A|RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	128					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AATAACTTCATCTCCTCAGGG	0.552000													33	77					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359622	16359622	+	Silent	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr20:16359622G>A	uc002wpg.2	-	18	3184	c.3025C>T	c.(3025-3027)Ctg>Ttg	p.L1009L	KIF16B_uc002wpe.1_Silent_p.L391L|KIF16B_uc002wpf.1_Silent_p.L391L|KIF16B_uc010gch.2_Silent_p.L1009L|KIF16B_uc010gci.2_Silent_p.L1009L|KIF16B_uc010gcj.2_Silent_p.L1020L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1009	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGCCTGGCCAGGGCCCGCTCC	0.557000													4	116					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98907042	98907042	+	Silent	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr2:98907042G>A	uc002syo.3	+	22	3378	c.3114G>A	c.(3112-3114)caG>caA	p.Q1038Q	VWA3B_uc002sym.3_Silent_p.Q1038Q|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Silent_p.Q695Q|VWA3B_uc002syp.1_Silent_p.Q430Q|VWA3B_uc002syq.1_Silent_p.Q314Q|VWA3B_uc002syr.1_Silent_p.Q355Q|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1038										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCAAAGGACAGAAGGTTATTG	0.323000													44	218					0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11594521	11594521	+	Silent	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr19:11594521G>A	uc002mrz.2	-	8	1961	c.1824C>T	c.(1822-1824)agC>agT	p.S608S	ELAVL3_uc002mrx.1_5'Flank|ELAVL3_uc002mry.1_5'Flank	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	Homo sapiens zinc finger protein 653 (ZNF653), mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GATCCGGGTGGCTTTTGAGCG	0.617000													5	114					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70926682	70926682	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr6:70926682G>T	uc003pfg.4	-	37	2843	c.2684C>A	c.(2683-2685)cCt>cAt	p.P895H	COL9A1_uc003pfe.4_Missense_Mutation_p.P444H|COL9A1_uc003pff.4_Missense_Mutation_p.P652H	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	895	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGGAAGCCCAGGAGGTCCCGG	0.632000													36	110					1.57019e-19	1.84498e-19	1	1	0
MTUS1	57509	broad.mit.edu	37	8	17612803	17612803	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr8:17612803A>G	uc003wxv.3	-	1	988	c.514T>C	c.(514-516)Ttt>Ctt	p.F172L	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.F172L|MTUS1_uc010lsz.3_Missense_Mutation_p.F172L	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	172						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGTGATATAAAGGTGCAGTTA	0.438000													29	156					0	0	1	0	0
AQP11	282679	broad.mit.edu	37	11	77301546	77301546	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr11:77301546A>G	uc001oyj.3	+	0	867	c.509A>G	c.(508-510)gAg>gGg	p.E170G	AQP11_uc009yuu.3_Intron	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	Homo sapiens aquaporin 11 (AQP11), mRNA.	170						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GTCATCACAGAGGCCGTCTGC	0.557000													34	137					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1513950	1513950	+	Silent	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr8:1513950C>T	uc003wpl.3	+	2	1189	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	DLGAP2_uc003wpm.3_Silent_p.D364D	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	443					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCATGGGGGACGAGGAGAGCG	0.567000													5	160					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37653978	37653978	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr20:37653978C>T	uc002xjh.3	+	17	1807	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	DHX35_uc010zwa.2_Nonsense_Mutation_p.Q438*|DHX35_uc010zwc.2_Nonsense_Mutation_p.Q562*|DHX35_uc010zwb.2_Nonsense_Mutation_p.Q438*	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	593						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TGTCAAGTTTCAAGTGCCCAG	0.443000													35	153					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87423961	87423961	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr8:87423961G>C	uc003ydt.3	+	8	1199	c.919G>C	c.(919-921)Gct>Cct	p.A307P	WWP1_uc010mai.3_Missense_Mutation_p.A83P	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	307					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GGAATCTGAAGCTAGAAGTAT	0.408000													17	80					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2763057	2763057	+	Silent	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr12:2763057C>T	uc009zdu.1	+	34	4588	c.4275C>T	c.(4273-4275)atC>atT	p.I1425I	CACNA1C_uc001qkc.2_Silent_p.I1377I|CACNA1C_uc001qjz.2_Silent_p.I1377I|CACNA1C_uc001qkd.2_Silent_p.I1377I|CACNA1C_uc001qke.2_Silent_p.I1366I|CACNA1C_uc001qkf.2_Silent_p.I1366I|CACNA1C_uc009zdw.1_Silent_p.I1399I|CACNA1C_uc001qkg.2_Silent_p.I1364I|CACNA1C_uc001qkh.2_Silent_p.I1366I|CACNA1C_uc001qkl.2_Silent_p.I1425I|CACNA1C_uc001qkj.2_Silent_p.I1377I|CACNA1C_uc001qkk.2_Silent_p.I1377I|CACNA1C_uc001qkn.2_Silent_p.I1377I|CACNA1C_uc001qkm.2_Silent_p.I1366I|CACNA1C_uc001qko.2_Silent_p.I1397I|CACNA1C_uc001qkp.2_Silent_p.I1377I|CACNA1C_uc001qkq.2_Silent_p.I1405I|CACNA1C_uc001qku.2_Silent_p.I1377I|CACNA1C_uc001qkr.2_Silent_p.I1394I|CACNA1C_uc001qks.2_Silent_p.I1377I|CACNA1C_uc001qkt.2_Silent_p.I1377I|CACNA1C_uc009zdv.1_Silent_p.I1374I|CACNA1C_uc001qkb.2_Silent_p.I1377I|CACNA1C_uc001qki.1_Silent_p.I1113I|CACNA1C_uc010sea.1_Silent_p.I68I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1425					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.R1425Q(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACGCGGTGATCGGGATGCAGG	0.627000													24	67					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37121780	37121780	+	Silent	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr5:37121780A>G	uc011cpa.1	-	47	9193	c.8962T>C	c.(8962-8964)Ttg>Ctg	p.L2988L	C5orf42_uc003jko.1_Silent_p.L19L|C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Silent_p.L1506L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.L2081L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2988										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTGTTAGGCAATGGTTTCTGT	0.463000													192	375					0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220075010	220075010	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr2:220075010C>A	uc002vkc.2	-	17	4141	c.2362G>T	c.(2362-2364)Gtg>Ttg	p.V788L	ABCB6_uc010fwe.2_Missense_Mutation_p.V742L	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	788	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATTGACCACAGTTGAGAGC	0.547000													22	125					8.24728e-16	9.41718e-16	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91631221	91631221	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr7:91631221A>T	uc003ulg.3	+	7	2215	c.1990A>T	c.(1990-1992)Aaa>Taa	p.K664*	AKAP9_uc003ule.2_Nonsense_Mutation_p.K676*|AKAP9_uc003ulf.3_Nonsense_Mutation_p.K664*|AKAP9_uc003uli.3_Nonsense_Mutation_p.K289*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	676	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATTCACTATAAACAGCAGAT	0.289000			T	BRAF	papillary thyroid								4	36					0	0	1	0	0
METTL2B	55798	broad.mit.edu	37	7	128119287	128119287	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr7:128119287G>T	uc003vnf.3	+	2	315	c.278G>T	c.(277-279)aGa>aTa	p.R93I	METTL2B_uc003vng.3_Missense_Mutation_p.R28I|METTL2B_uc011kop.2_5'UTR	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	93							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTCAAGGATAGACATTGGCTT	0.348000													44	272					2.91325e-39	3.5719e-39	1	1	0
SMC1B	27127	broad.mit.edu	37	22	45785629	45785629	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr22:45785629G>C	uc003bgc.3	-	9	1746	c.1694C>G	c.(1693-1695)gCt>gGt	p.A565G	SMC1B_uc003bgd.3_Missense_Mutation_p.A565G|SMC1B_uc003bge.1_Missense_Mutation_p.A348G	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	565	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTCAGGTTCAGCTCTTTCCTC	0.383000													25	98					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19548822	19548822	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr16:19548822C>A	uc002dgl.4	+	3	2078	c.1831C>A	c.(1831-1833)Caa>Aaa	p.Q611K	CCP110_uc002dgk.4_Missense_Mutation_p.Q611K	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	611					G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AATAACTGAACAAGAAAGGCA	0.348000													30	154					3.21399e-22	3.84045e-22	1	1	0
NR3C2	4306	broad.mit.edu	37	4	149356416	149356416	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr4:149356416T>C	uc003ilj.4	-	1	1960	c.1597A>G	c.(1597-1599)Ata>Gta	p.I533V	NR3C2_uc003ilk.4_Missense_Mutation_p.I533V|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	533	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GATAAAGATATTGTACCTTGA	0.483000													48	131					0	0	1	0	0
MGC39584	441058	broad.mit.edu	37	GL000193.1	88307	88307	+	RNA	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chrGL000193.1:88307C>T	uc003izx.3	-	0		c.69G>A			MGC39584_uc003izy.3_5'Flank					Homo sapiens uncharacterized LOC441058 (MGC39584), non-coding RNA.																		ctgctgtcatcaggagaggtt	0.642000													4	12					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88233969	88233969	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr9:88233969C>G	uc011lte.2	-	15	2367	c.2300G>C	c.(2299-2301)gGa>gCa	p.G767A	AGTPBP1_uc004aod.4_Missense_Mutation_p.G381A|AGTPBP1_uc011ltc.2_Missense_Mutation_p.G653A|AGTPBP1_uc011ltd.2_Missense_Mutation_p.G755A|AGTPBP1_uc010mqc.3_Missense_Mutation_p.G715A	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	755					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TGGTCGCATTCCACTGACTTC	0.328000													20	80					0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	rs80035763	byFrequency	TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr10:43659419G>T	uc001jan.3	+	4	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	362					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.L362F(10)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433000													5	130					0.00116845	0.00122948	1	1	0
KLHL24	54800	broad.mit.edu	37	3	183381404	183381404	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:183381404C>A	uc003flv.3	+	3	1374	c.1079C>A	c.(1078-1080)gCt>gAt	p.A360D	KLHL24_uc003flw.3_Missense_Mutation_p.A360D|KLHL24_uc003flx.3_Missense_Mutation_p.A360D	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	360						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCAGTCTGTGCTCTAAGGAAT	0.353000													9	76					3.86212e-05	4.09443e-05	1	1	0
CPS1	1373	broad.mit.edu	37	2	211471605	211471605	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr2:211471605G>T	uc010fur.3	+	18	2232	c.2150G>T	c.(2149-2151)tGc>tTc	p.C717F	CPS1_uc002vee.4_Missense_Mutation_p.C711F|CPS1_uc010fus.3_Missense_Mutation_p.C260F	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	711	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATGGAATACTGCATCATTGAA	0.458000													43	178					4.18559e-23	5.04417e-23	1	1	0
GRAP2	9402	broad.mit.edu	37	22	40367067	40367067	+	Silent	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr22:40367067C>T	uc003ayh.2	+	7	1235	c.972C>T	c.(970-972)taC>taT	p.Y324Y	GRAP2_uc011aom.2_Silent_p.Y298Y|GRAP2_uc011aon.2_Silent_p.Y258Y|GRAP2_uc010gya.2_Silent_p.Y324Y|GRAP2_uc011aoo.2_Silent_p.Y252Y|GRAP2_uc011aop.2_Silent_p.Y284Y|GRAP2_uc011aoq.2_Silent_p.Y211Y|GRAP2_uc003ayj.2_Silent_p.Y324Y	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	324	SH3 2.				Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CTGCCAACTACGTGGCACCCA	0.582000													23	70					0	0	1	0	0
UNQ2565	0	broad.mit.edu	37	22	24656987	24656987	+	RNA	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr22:24656987A>G	uc002zzs.4	+	4		c.2267A>G								Homo sapiens POM121 membrane glycoprotein-like 9, pseudogene (POM121L9P), non-coding RNA.																		GCTGTGCTGCAAGCTGACTCC	0.617000													14	90					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19548820	19548820	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr16:19548820A>T	uc002dgl.4	+	3	2076	c.1829A>T	c.(1828-1830)gAa>gTa	p.E610V	CCP110_uc002dgk.4_Missense_Mutation_p.E610V	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	610					G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GGAATAACTGAACAAGAAAGG	0.348000													29	156					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64587271	64587271	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr5:64587271T>A	uc003jtp.3	-	10	2211	c.1397A>T	c.(1396-1398)aAt>aTt	p.N466I	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.N87I	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	466	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GGGAGGCTCATTATCAAGGCA	0.458000													39	215					0	0	1	0	0
SEPT7	989	broad.mit.edu	37	7	35923576	35923576	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr7:35923576T>A	uc010kxc.3	+	7	1017	c.793T>A	c.(793-795)Tat>Aat	p.Y265N	SEPT7_uc011kat.2_Missense_Mutation_p.Y265N|SEPT7_uc011kau.2_Missense_Mutation_p.Y231N|SEPT7_uc011kav.2_Missense_Mutation_p.Y214N	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	267					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						AGGAAGGCAGTATCCTTGGGG	0.343000													23	99					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51750667	51750667	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr6:51750667G>T	uc003pah.1	-	44	7489	c.7213C>A	c.(7213-7215)Cag>Aag	p.Q2405K	PKHD1_uc010jzn.1_Missense_Mutation_p.Q388K|PKHD1_uc003pai.3_Missense_Mutation_p.Q2405K	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2405					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGCTTACCTGGGCACCACCT	0.383000													25	78					1.77063e-15	1.99727e-15	1	1	0
FMN2	56776	broad.mit.edu	37	1	240370577	240370577	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:240370577A>T	uc010pye.2	+	5	2702	c.2477A>T	c.(2476-2478)cAa>cTa	p.Q826L	FMN2_uc010pyd.2_Missense_Mutation_p.Q822L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	822	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCTGCTGGGCAAGGACAGCCT	0.537000													28	76					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121649781	121649781	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:121649781A>G	uc003eep.2	+	17	1801	c.1648A>G	c.(1648-1650)Act>Gct	p.T550A	SLC15A2_uc011bjn.1_Missense_Mutation_p.T519A	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	550					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGCTTATAGAACTGTGCAAAG	0.388000													25	124					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666137	30666137	+	Silent	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr16:30666137G>A	uc002dyy.3	+	7	1104	c.846G>A	c.(844-846)ctG>ctA	p.L282L	PRR14_uc002dyz.3_Silent_p.L127L|PRR14_uc002dza.3_Silent_p.L282L|PRR14_uc002dzb.1_Silent_p.L96L	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	282	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CAATGAAGCTGGAGTTGAAGA	0.637000													5	26					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422672	26422672	+	Silent	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr22:26422672C>T	uc003abz.1	+	42	6982	c.6732C>T	c.(6730-6732)ccC>ccT	p.P2244P	MYO18B_uc003aca.1_Silent_p.P2125P|MYO18B_uc010guy.1_Silent_p.P2126P|MYO18B_uc010guz.1_Silent_p.P2124P|MYO18B_uc011aka.1_Silent_p.P1398P|MYO18B_uc011akb.1_Silent_p.P1757P|MYO18B_uc010gva.1_Silent_p.P227P|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2244						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAAAGCTGCCCAGTCCTTCAG	0.607000													25	120					0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004649	41004649	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr17:41004649G>A	uc002ibv.3	+	0	1449	c.1289G>A	c.(1288-1290)tGt>tAt	p.C430Y		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	430					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GATGCCTTTTGTGTGTTTGAA	0.592000													64	339					0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41791352	41791352	+	Silent	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr13:41791352C>T	uc010tff.2	-	11	1602	c.1383G>A	c.(1381-1383)gtG>gtA	p.V461V	MTRF1_uc001uxx.3_Missense_Mutation_p.G413S|MTRF1_uc001uxy.3_Missense_Mutation_p.G413S|MTRF1_uc001uxz.3_Missense_Mutation_p.G249S|AK056182_uc001uxv.1_Intron|BC051736_uc001uya.1_5'Flank|BC051736_uc001uyb.3_5'Flank			O75570	RF1M_HUMAN	Homo sapiens mitochondrial translational release factor 1 (MTRF1), nuclear gene encoding mitochondrial protein, mRNA.	0					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CCCTTCCCACCACATAAAAAT	0.348000													25	98					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149430813	149430813	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr7:149430813C>G	uc003wfz.3	+	17	3166	c.2767C>G	c.(2767-2769)Cct>Gct	p.P923A	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Missense_Mutation_p.P531A	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	924	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCAGAACCTCCTGGGCTCCA	0.692000													9	35					0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49718019	49718019	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:49718019T>C	uc010hkw.1	+	13	1656	c.1256T>C	c.(1255-1257)cTc>cCc	p.L419P	APEH_uc003cxf.3_Missense_Mutation_p.L419P	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	419					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACCAGGACCTCATGGTGGCA	0.572000													54	156					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78414969	78414969	+	Silent	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:78414969A>G	uc001dii.3	-	18	1886	c.1797T>C	c.(1795-1797)gcT>gcC	p.A599A	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Silent_p.A620A	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	599					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCCCAGTCGGAGCAGGAACTG	0.448000			"""F, N"""		oligodendroglioma								11	46					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160786562	160786562	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:160786562A>C	uc001fwu.3	+	4	1301	c.1251A>C	c.(1249-1251)agA>agC	p.R417S	LY9_uc001fwv.3_Missense_Mutation_p.R417S|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Missense_Mutation_p.R69S	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	417	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTCATGGAGAAGCAGTGAAA	0.527000													48	152					0	0	1	0	0
EIF3H	8667	broad.mit.edu	37	8	117661151	117661151	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr8:117661151T>G	uc003yob.3	-	7	1531	c.764A>C	c.(763-765)aAg>aCg	p.K255T	EIF3H_uc003yoa.3_Missense_Mutation_p.K241T	NM_003756	NP_003747	O15372	EIF3H_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit H (EIF3H), mRNA.	241					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CTGTAGATTCTTCCCCAAATG	0.333000													29	90					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789370	6789370	+	Silent	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr11:6789370G>T	uc001meq.1	-	0	819	c.819C>A	c.(817-819)atC>atA	p.I273I		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAACAGAGATGATGTTGTCTT	0.512000													67	302					4.18771e-30	5.09024e-30	1	1	0
HEG1	57493	broad.mit.edu	37	3	124748131	124748131	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:124748131C>T	uc011bke.2	-	1	586	c.518G>A	c.(517-519)aGc>aAc	p.S173N	HEG1_uc003ehs.4_Missense_Mutation_p.S173N	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	173						extracellular region|integral to membrane	calcium ion binding	p.S173S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGAAGAGCCGCTCCTTCCTCT	0.512000													44	147					0	0	1	0	0
CXorf61	203413	broad.mit.edu	37	X	115594139	115594139	+	Splice_Site	SNP	G	G	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chrX:115594139G>C	uc004eqj.1	-	1	1	c.-119_splice	c.e1-1			NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.							integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						GGTGTAACTGGGAAGTTCTGT	0.582000													14	28					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99919925	99919925	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chrX:99919925T>G	uc004egb.3	+	4	990	c.510T>G	c.(508-510)agT>agG	p.S170R		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	170	Sushi 2.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GGAGATGGAGTGGAGGCGAGC	0.517000													4	90					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135260502	135260502	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr6:135260502A>G	uc003qew.3	-	3	563	c.494T>C	c.(493-495)aTa>aCa	p.I165T	ALDH8A1_uc011ecx.2_Intron|ALDH8A1_uc003qex.3_Missense_Mutation_p.I165T|ALDH8A1_uc010kgh.3_5'UTR	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA.	165					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CGCTGGAGCTATCTTCCAGGT	0.542000													16	97					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155154048	155154048	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr6:155154048G>A	uc003qqa.3	+	20	3567	c.3335G>A	c.(3334-3336)gGt>gAt	p.G1112D	TIAM2_uc003qqb.3_5'UTR|SCAF8_uc011efj.2_Missense_Mutation_p.G1178D|SCAF8_uc011efk.2_Missense_Mutation_p.G1157D|SCAF8_uc003qpz.3_Missense_Mutation_p.G1112D|SCAF8_uc010kji.3_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	1112					RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GTCTATGGTGGTCCAAAAGGC	0.468000													32	133					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41794945	41794945	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr8:41794945A>T	uc010lxb.3	-	16	3725	c.3181T>A	c.(3181-3183)Tta>Ata	p.L1061I	KAT6A_uc010lxc.3_Missense_Mutation_p.L1061I|KAT6A_uc003xon.4_Missense_Mutation_p.L1061I	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1061					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GTGGGTTCTAATCTTGGCATT	0.428000													46	180					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152426612	152426612	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr2:152426612A>T	uc021vrb.1	-	79	12339	c.12310T>A	c.(12310-12312)Tac>Aac	p.Y4104N	NEB_uc002txr.3_Missense_Mutation_p.Y570N|NEB_uc002txu.3_Missense_Mutation_p.Y5805N|NEB_uc021vrc.1_Missense_Mutation_p.Y5805N|NEB_uc010fnx.3_Missense_Mutation_p.Y4092N|NEB_uc021vrd.1_Missense_Mutation_p.Y4104N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4104					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCAGTTCGTAGGCCTTCTTG	0.507000													27	104					0	0	1	0	0
REPIN1	29803	broad.mit.edu	37	7	150069172	150069172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr7:150069172C>A	uc010lpr.1	+	2	1206	c.1013C>A	c.(1012-1014)tCg>tAg	p.S338*	REPIN1_uc003whd.2_Nonsense_Mutation_p.S270*|REPIN1_uc010lpq.1_Nonsense_Mutation_p.S281*|REPIN1_uc003whc.2_Nonsense_Mutation_p.S281*|REPIN1_uc003whe.2_Nonsense_Mutation_p.S281*	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.	281	Pro-rich.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TATCTGACTTCGCACCGGCGC	0.637000													5	31					1.12685e-05	1.21287e-05	1	1	0
NOLC1	9221	broad.mit.edu	37	10	103917872	103917872	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr10:103917872G>A	uc001kup.2	+	4	743	c.508G>A	c.(508-510)Gat>Aat	p.D170N	NOLC1_uc001kuo.2_Missense_Mutation_p.D170N|NOLC1_uc001kuq.2_Missense_Mutation_p.D171N|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_Intron	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	170	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTCTGATTCTGATTCTGACTC	0.488000													24	135					0	0	1	0	0
HAPLN4	404037	broad.mit.edu	37	19	19371725	19371725	+	Silent	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr19:19371725G>A	uc002nmb.3	-	2	491	c.381C>T	c.(379-381)tcC>tcT	p.S127S	HAPLN4_uc002nmc.3_Silent_p.S127S	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	127	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GGAGGACCAGGGAGGCATCCC	0.652000													11	32					0	0	1	0	0
DEFB113	245927	broad.mit.edu	37	6	49936558	49936558	+	Silent	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr6:49936558T>C	uc011dwq.2	-	1	81	c.81A>G	c.(79-81)gaA>gaG	p.E27E		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	Homo sapiens defensin, beta 113 (DEFB113), mRNA.	27					defense response to bacterium	extracellular region		p.R26T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					TCTCTGCAACTTCTCTTGTTT	0.363000													12	52					0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47718172	47718172	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:47718172C>A	uc003crq.2	-	16	1790	c.1672G>T	c.(1672-1674)Gta>Tta	p.V558L	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Missense_Mutation_p.V449L	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	558					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCAGCTAATACATTAAAATGA	0.463000													14	87					6.49762e-13	7.27115e-13	1	1	0
MRC1	4360	broad.mit.edu	37	10	17891586	17891586	+	Missense_Mutation	SNP	G	G	A	rs12219862		TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr10:17891586G>A	uc001ipk.3	+	6	1170	c.1067G>A	c.(1066-1068)aGt>aAt	p.S356N		NM_002438	NP_002429	P22897	MRC1_HUMAN	Homo sapiens mannose receptor, C type 1 (MRC1), mRNA.	356					receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						TTTCTAGAAAGTGATGTGCCT	0.358000													4	161					0	0	1	0	0
CRIP3	401262	broad.mit.edu	37	6	43273731	43273731	+	Silent	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr6:43273731T>C	uc010jyn.2	-	6	627	c.627A>G	c.(625-627)gtA>gtG	p.V209V	CRIP3_uc003ouu.1_Intron	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Homo sapiens cysteine-rich protein 3 (CRIP3), mRNA.	209						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGTCCACACATACCCACAGAC	0.577000													34	144					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31374006	31374006	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr16:31374006G>C	uc002ebt.3	+	11	1358	c.1291G>C	c.(1291-1293)Ggg>Cgg	p.G431R	ITGAX_uc002ebu.1_Missense_Mutation_p.G431R|ITGAX_uc010vfk.1_Missense_Mutation_p.G81R	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	431					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCAGCACACCGGGAAGGCTGT	0.647000													91	317					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61616010	61616010	+	Silent	SNP	C	C	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr17:61616010C>G	uc002jay.3	+	7	2021	c.1941C>G	c.(1939-1941)gtC>gtG	p.V647V	KCNH6_uc010wpl.2_Silent_p.V524V|KCNH6_uc010wpm.2_Silent_p.V647V|KCNH6_uc002jaz.1_Silent_p.V594V	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	647					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ACGACGTGGTCGTGGCCATCC	0.662000													49	197					0	0	1	0	0
PHPT1	29085	broad.mit.edu	37	9	139744582	139744582	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr9:139744582A>G	uc004cjq.4	+	1	905	c.278A>G	c.(277-279)tAt>tGt	p.Y93C	PHPT1_uc011mei.2_Missense_Mutation_p.Y93C|MAMDC4_uc004cjs.3_5'Flank|MAMDC4_uc011mej.2_5'Flank	NM_014172	NP_054891	Q9NRX4	PHP14_HUMAN	Homo sapiens phosphohistidine phosphatase 1 (PHPT1), transcript variant 3, mRNA.	93						cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GTGTACGGCTATTCCATGGTG	0.662000													25	112					0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220075011	220075011	+	Silent	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr2:220075011A>G	uc002vkc.2	-	17	4140	c.2361T>C	c.(2359-2361)acT>acC	p.T787T	ABCB6_uc010fwe.2_Silent_p.T741T	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	787	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTGACCACAGTTGAGAGCC	0.547000													21	128					0	0	1	0	0
SLC9A8	23315	broad.mit.edu	37	20	48431566	48431566	+	Silent	SNP	T	T	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr20:48431566T>C	uc002xuv.1	+	1	258	c.48T>C	c.(46-48)caT>caC	p.H16H	SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Silent_p.H16H|SLC9A8_uc010zyk.1_Silent_p.H16H|SLC9A8_uc010zyl.1_Silent_p.H16H|SLC9A8_uc010gib.1_Silent_p.H16H	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.	16						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			ATACAACTCATGAGGGTTTCA	0.522000													31	111					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255120	70255120	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr7:70255120A>T	uc003tvw.4	+	18	3653	c.2918A>T	c.(2917-2919)aAc>aTc	p.N973I	AUTS2_uc003tvx.4_Missense_Mutation_p.N949I|AUTS2_uc011keg.2_Missense_Mutation_p.N425I	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	973										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCCTACGAGAACCCCAAGAAG	0.697000													3	32					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50658965	50658965	+	Silent	SNP	C	C	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chrX:50658965C>T	uc011mnw.2	+	1	586	c.537C>T	c.(535-537)aaC>aaT	p.N179N		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	179					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TGATGTCTAACGCTTGGAAAG	0.473000													68	116					0	0	1	0	0
UTP15	84135	broad.mit.edu	37	5	72864379	72864379	+	Silent	SNP	T	T	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr5:72864379T>A	uc003kcw.1	+	3	541	c.318T>A	c.(316-318)ctT>ctA	p.L106L	UTP15_uc011cso.1_Silent_p.L87L|UTP15_uc011csp.1_5'UTR|UTP15_uc010ize.1_Silent_p.L106L|ANKRA2_uc003kcu.2_5'Flank	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.	106					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		GAGTTCAACTTTTTGATATAA	0.413000													21	117					0	0	1	0	0
MRPL22	29093	broad.mit.edu	37	5	154346429	154346429	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr5:154346429G>A	uc003lvy.4	+	6	631	c.593G>A	c.(592-594)cGc>cAc	p.R198H	MRPL22_uc003lvz.4_Missense_Mutation_p.R118H	NM_014180	NP_001014990	Q9NWU5	RM22_HUMAN	Homo sapiens mitochondrial ribosomal protein L22 (MRPL22), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	198					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCAGCTTCGCAGCCGGACC	0.438000													4	107					0	0	1	0	0
GOLGA6L1	283767	broad.mit.edu	37	15	22743221	22743221	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr15:22743221G>A	uc010tzx.1	+	7	1697	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	abParts_uc001yuj.2_Intron|DQ579907_uc010tzy.1_5'Flank	NM_001001413	NP_001001413			Homo sapiens golgin A6 family-like 1 (GOLGA6L1), mRNA.									p.E536K(2)		NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						acgggagcaggaggagaagat	0.542000													3	47					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038719	75038719	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:75038719G>A	uc001dgg.3	-	13	2894	c.2675C>T	c.(2674-2676)gCt>gTt	p.A892V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	892	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCTTCAGAAGCTGCTTTGTC	0.498000													3	110					0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76726384	76726384	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr4:76726384A>G	uc003hiu.3	+	17	2239	c.2064A>G	c.(2062-2064)atA>atG	p.I688M	USO1_uc003hiv.3_Missense_Mutation_p.I581M|USO1_uc003hiw.3_Missense_Mutation_p.I574M	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	739					intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGAAGAGATAGAAGAATTAA	0.363000													4	239					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261868	6261868	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr11:6261868G>C	uc001mco.3	+	3	959	c.844G>C	c.(844-846)Gat>Cat	p.D282H	CNGA4_uc010raa.2_Splice_Site_p.D51_splice|CNGA4_uc001mcn.3_Missense_Mutation_p.D242H	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	282					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTACCCAGATCATGCACT	0.552000													43	199					0	0	1	0	0
PLIN2	123	broad.mit.edu	37	9	19126158	19126158	+	Silent	SNP	C	C	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr9:19126158C>A	uc003zno.3	-	2	390	c.180G>T	c.(178-180)gtG>gtT	p.V60V	PLIN2_uc011lna.2_Silent_p.V32V|PLIN2_uc011lnb.2_Silent_p.V60V	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.	60					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TGGTCATGGCCACGGAGGTGA	0.527000													43	176					3.05275e-18	3.55733e-18	1	1	0
TBL1XR1	79718	broad.mit.edu	37	3	176771657	176771657	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:176771657C>G	uc003fiw.4	-	3	368	c.108G>C	c.(106-108)caG>caC	p.Q36H	TBL1XR1_uc003fix.4_Missense_Mutation_p.Q36H|TBL1XR1_uc011bpz.2_5'UTR|TBL1XR1_uc003fiy.2_Missense_Mutation_p.Q36H	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	Homo sapiens transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1), mRNA.	36	LisH.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTATATTGGACTGACTGATAT	0.378000													6	114					0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446750	169446750	+	Silent	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:169446750G>A	uc001gge.4	-	1	654	c.450C>T	c.(448-450)gaC>gaT	p.D150D	SLC19A2_uc001ggf.4_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	150					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					ACATGCCCAGGTCCACCACAC	0.478000													42	106					0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227172964	227172964	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:227172964G>A	uc001hqm.1	+	18	5001	c.1582G>A	c.(1582-1584)Gct>Act	p.A528T	ADCK3_uc001hqn.1_Missense_Mutation_p.A528T|ADCK3_uc009xeq.1_Missense_Mutation_p.A476T|ADCK3_uc010pvq.1_Missense_Mutation_p.A249T|ADCK3_uc010pvr.1_Missense_Mutation_p.A202T|ADCK3_uc001hqo.1_Missense_Mutation_p.A249T|ADCK3_uc009xer.1_Missense_Mutation_p.A44T	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	Homo sapiens aarF domain containing kinase 3 (ADCK3), nuclear gene encoding mitochondrial protein, mRNA.	528					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GATCATCAGGGCTGCTGCCGA	0.632000													13	35					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095526	130095526	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:130095526G>T	uc010htj.1	+	2	1008	c.514G>T	c.(514-516)Gct>Tct	p.A172S	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	172	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGTGCAGAAAGCTTCTGAGGA	0.502000													17	107					8.28177e-16	9.41718e-16	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85716095	85716095	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr4:85716095G>T	uc003hpd.3	-	19	3613	c.3205C>A	c.(3205-3207)Cct>Act	p.P1069T		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1069						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTATTTGTAGGAGCATTATGA	0.378000													73	207					8.45e-40	1.04513e-39	1	1	0
RBMXL1	494115	broad.mit.edu	37	1	89449426	89449426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:89449426delA	uc021opo.1	-	0	84	c.84delT	c.(82-84)tttfs	p.F28fs	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Frame_Shift_Del_p.F28fs|RBMXL1_uc001dms.3_Frame_Shift_Del_p.F28fs	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	28	RRM.						RNA binding|nucleotide binding										CATATTTGCCAAATACTGTTT	0.413											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	427	---	---	---	---					
IQGAP3	128239	broad.mit.edu	37	1	156517916	156517917	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr1:156517916_156517917delAG	uc001fpf.3	-	18	2327_2328	c.2252_2253delCT	c.(2251-2253)gctfs	p.A751fs		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	751	IQ 1.				small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGAATGCTCAGCAAACTTCTG	0.579													33	98	---	---	---	---					
CACNA1D	776	broad.mit.edu	37	3	53844325	53844325	+	Splice_Site	DEL	A	A	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:53844325delA	uc003dgv.4	+	47	6355	c.6192_splice	c.e47+1	p.A2064_splice	CACNA1D_uc003dgu.4_Splice_Site_p.A2084_splice|CACNA1D_uc003dgy.4_Splice_Site_p.A2040_splice|CACNA1D_uc003dgw.4_Splice_Site_p.A1731_splice|CACNA1D_uc011bes.2_Splice_Site	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	2064					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)	TGGTGGAGGCAGTGAGTACGG	0.612													86	388	---	---	---	---					
YEATS2	55689	broad.mit.edu	37	3	183476664	183476664	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr3:183476664delA	uc003fly.2	+	12	1762	c.1567delA	c.(1567-1569)aagfs	p.K523fs		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	523					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCTACAAACAAGATCTCCAC	0.373													54	334	---	---	---	---					
CNGA1	1259	broad.mit.edu	37	4	47938977	47938977	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr4:47938977delT	uc003gxu.3	-	9	1882	c.1741delA	c.(1741-1743)atcfs	p.I581fs	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Frame_Shift_Del_p.I512fs	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	512					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTCGTCCGATATCCCCTTTC	0.463													29	152	---	---	---	---					
CCDC112	153733	broad.mit.edu	37	5	114603580	114603581	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr5:114603580_114603581insTT	uc003kqz.2	-	9	1800_1801	c.1582_1583insAA	c.(1582-1584)agafs	p.R528fs	CCDC112_uc003kqy.2_Frame_Shift_Ins_p.R445fs|CCDC112_uc003kra.2_Frame_Shift_Ins_p.R496fs	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	445										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ATCTCATACTCTTCTCTGTATT	0.327													31	201	---	---	---	---					
MARCKS	4082	broad.mit.edu	37	6	114181210	114181210	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr6:114181210delA	uc003pvy.4	+	1	849	c.454delA	c.(454-456)aaafs	p.K152fs		NM_002356	NP_002347	P29966	MARCS_HUMAN	Homo sapiens myristoylated alanine-rich protein kinase C substrate (MARCKS), mRNA.	152	Calmodulin-binding (PSD).				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CGAGACCCCGAAAAAAAAAAA	0.612													2	4	---	---	---	---					
ADARB2	105	broad.mit.edu	37	10	1405639	1405640	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr10:1405639_1405640insG	uc009xhq.3	-	2	986_987	c.660_661insC	c.(658-663)cccgacfs	p.P220fs		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	220					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		AAGAGCGTGTCGGGGAAATCGG	0.762													2	4	---	---	---	---					
DNHD1	144132	broad.mit.edu	37	11	6561201	6561201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr11:6561201delC	uc001mdw.4	+	17	4080	c.3516delC	c.(3514-3516)ttcfs	p.F1172fs	DNHD1_uc001mds.1_5'UTR	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	1172					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCTCAACTTCATCCTGCATG	0.582													19	201	---	---	---	---					
MAML2	84441	broad.mit.edu	37	11	95712439	95712440	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr11:95712439_95712440insT	uc001pfw.1	-	4	4428_4429	c.3143_3144insA	c.(3142-3144)aatfs	p.N1048fs		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	1048					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGGGTCTGAGATTCAGACCCCT	0.500			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								52	161	---	---	---	---					
SAV1	60485	broad.mit.edu	37	14	51132105	51132106	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr14:51132105_51132106delCT	uc001wyh.1	-	1	664_665	c.326_327delAG	c.(325-327)gagfs	p.E109fs	SAV1_uc021rsy.1_Non-coding_Transcript	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	109					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					AAGAACCATACTCTCTAGGGAC	0.376													133	400	---	---	---	---					
GHDC	84514	broad.mit.edu	37	17	40344519	40344519	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr17:40344519delA	uc002hzd.3	-	3	1113	c.629delT	c.(628-630)ttcfs	p.F210fs	GHDC_uc002hzg.2_Frame_Shift_Del_p.F210fs|GHDC_uc010wgg.2_Frame_Shift_Del_p.F171fs|GHDC_uc002hze.4_Frame_Shift_Del_p.F210fs|GHDC_uc002hzf.4_Frame_Shift_Del_p.F210fs|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	210						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CAGGCCCAAGAAAACATCCAG	0.652													19	176	---	---	---	---					
MMD	23531	broad.mit.edu	37	17	53485137	53485138	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr17:53485137_53485138insAG	uc002iui.3	-	3	598_599	c.313_314insCT	c.(313-315)tatfs	p.Y105fs		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated (MMD), mRNA.	105					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AATGAAGAAATAGATAACCATT	0.386													30	85	---	---	---	---					
RNF213	57674	broad.mit.edu	37	17	78350139	78350141	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr17:78350139_78350141delGAT	uc002jyh.2	+	52	13514_13516	c.13371_13373delGAT	c.(13369-13374)aagatc>aac	p.4457_4458KI>N	RNF213_uc021uen.1_In_Frame_Del_p.4408_4409KI>N|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCGAATGCAAGATCCTTTCACCT	0.433													32	223	---	---	---	---					
CGB	1082	broad.mit.edu	37	19	49526376	49526377	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr19:49526376_49526377insT	uc002plv.2	-	2	668_669	c.264_265insA	c.(262-267)cggctcfs	p.R88fs		NM_000737	NP_000728	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide (CGB), mRNA.	88					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			large_intestine(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	CAGCCAGGGAGCCGGATGGACT	0.693													2	4	---	---	---	---					
LZTR1	8216	broad.mit.edu	37	22	21343966	21344002	+	Splice_Site	DEL	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	GAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	-	rs66577617	by1000genomes	TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr22:21343966_21344002delGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA	uc002zto.3	+	7	754	c.651_splice	c.e7+1	p.E217_splice	LZTR1_uc002ztn.3_Splice_Site_p.E176_splice|LZTR1_uc011ahy.2_Splice_Site_p.E198_splice|LZTR1_uc010gsr.1_Splice_Site_p.E88_splice	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	217					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACCTGCTgggaggaggtgaggggcgtggggagccagggcgcaggtagaggaggtga	0.662													10	61	---	---	---	---					
NEFH	4744	broad.mit.edu	37	22	29885622	29885623	+	In_Frame_Ins	INS	-	-	AGGAAG			TCGA-HE-A5NK-01A-11D-A26P-10	TCGA-HE-A5NK-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73f57b92-a6e6-4472-940b-579c22d208bf	254baf21-7011-4eb9-84cf-45364c96ccb7	g.chr22:29885622_29885623insAGGAAG	uc003afo.3	+	3	2064_2065	c.1993_1994insAGGAAG	c.(1993-1995)aag>aAGGAAGag	p.665_666insEE	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	671	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GTCCCCTGAGAAGGCCAAGTCC	0.579													9	594	---	---	---	---					
