Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ANXA3	306	broad.mit.edu	37	4	79512751	79512751	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr4:79512751C>T	uc003hld.3	+	6	767	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	153					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	p.R153Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGGTGACTTCCGGAAAGCTCT	0.343000														132			94		0	0	0.139131	0	0
PARL	55486	broad.mit.edu	37	3	183551348	183551348	+	Silent	SNP	T	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:183551348T>G	uc003fmd.3	-	8	1019	c.960A>C	c.(958-960)acA>acC	p.T320T	PARL_uc003fme.3_Silent_p.T270T	NM_018622	NP_061092	Q9H300	PARL_HUMAN	Homo sapiens presenilin associated, rhomboid-like (PARL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	320					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCATTCCTGCTGTATCCATGG	0.448000														48			33		0	0	0.086207	0	0
APPBP2	10513	broad.mit.edu	37	17	58525181	58525181	+	Missense_Mutation	SNP	C	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr17:58525181C>A	uc002iys.1	-	12	1807	c.1519G>T	c.(1519-1521)Ggt>Tgt	p.G507C	APPBP2_uc010ddl.1_Missense_Mutation_p.G436C	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	507					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TAGCCCTCACCAAAAAGTTTC	0.308000														70			52		5.2118e-15	6.02252e-15	0.139131	1	0
MKL2	57496	broad.mit.edu	37	16	14342808	14342808	+	Missense_Mutation	SNP	C	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr16:14342808C>G	uc010uza.2	+	12	2428	c.2273C>G	c.(2272-2274)aCt>aGt	p.T758S	MKL2_uc002dcg.3_Missense_Mutation_p.T708S|MKL2_uc002dcj.3_Missense_Mutation_p.T3S	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	747	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGAATGCAGACTCAGCCTCAG	0.448000														33			58		0	0	0.139131	0	0
USP24	23358	broad.mit.edu	37	1	55569689	55569689	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr1:55569689T>C	uc021onw.1	-	41	5138	c.4885A>G	c.(4885-4887)Agt>Ggt	p.S1629G	USP24_uc001cyg.4_Missense_Mutation_p.S1463G	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1629					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTCGCTGTACTACACCTAGAA	0.328000														9			5		0	0	0.021553	0	0
C9orf84	158401	broad.mit.edu	37	9	114503767	114503767	+	Missense_Mutation	SNP	A	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:114503767A>T	uc004bfr.3	-	8	1106	c.971T>A	c.(970-972)tTt>tAt	p.F324Y	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfs.1_Missense_Mutation_p.F388Y|C9orf84_uc004bfq.3_Missense_Mutation_p.F285Y|C9orf84_uc010mug.3_Missense_Mutation_p.F270Y	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	324										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGTAAGCAAAAATGGGTTCAA	0.323000														38			43		0	0	0.131918	0	0
FERMT2	10979	broad.mit.edu	37	14	53360052	53360052	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr14:53360052T>C	uc001xac.3	-	3	671	c.485A>G	c.(484-486)gAg>gGg	p.E162G	FERMT2_uc001xad.3_Missense_Mutation_p.E162G|FERMT2_uc001xae.3_Missense_Mutation_p.E162G|FERMT2_uc001xaf.3_Missense_Mutation_p.E162G	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	162					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TTCAAGTGCCTCATCTTCAGA	0.413000														89			62		0	0	0.139131	0	0
AHDC1	27245	broad.mit.edu	37	1	27875947	27875947	+	Missense_Mutation	SNP	T	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr1:27875947T>G	uc021ojw.1	-	0	2680	c.2680A>C	c.(2680-2682)Aag>Cag	p.K894Q	AHDC1_uc009vsy.3_Missense_Mutation_p.K894Q|AHDC1_uc009vsz.1_Missense_Mutation_p.K894Q	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	894							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGCTGGCCTTGGCTCCCCGG	0.716000														18			28		0	0	0.144211	0	0
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr12:123780522G>A	uc010tap.2	-	30	4115	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Missense_Mutation_p.A1371V|SBNO1_uc010taq.2_Missense_Mutation_p.A323V	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1372							ATP binding|DNA binding|hydrolase activity	p.A1371V(4)|p.A1371A(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433000														279			6		0	0	0.021553	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46051766	46051766	+	Splice_Site	SNP	G	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr17:46051766G>A	uc010wlc.2	+	5	470	c.346_splice	c.e5-1	p.D116_splice	CDK5RAP3_uc002imq.1_Splice_Site|CDK5RAP3_uc002imr.3_Splice_Site_p.D96_splice|CDK5RAP3_uc002ims.3_Splice_Site	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA.	96					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TCTTACTCAGGATTGGCAGGA	0.493000														99			9		0	0	0.105934	0	0
FSHR	2492	broad.mit.edu	37	2	49190328	49190328	+	Silent	SNP	G	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:49190328G>A	uc002rww.3	-	9	1742	c.1632C>T	c.(1630-1632)gtC>gtT	p.V544V	FSHR_uc010fbn.3_Silent_p.V518V|FSHR_uc002rwx.3_Silent_p.V482V	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	544					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AGCCACAGATGACCACAAAGG	0.532000									Gonadal Dysgenesis, 46 XX					18			16		0	0	0.033300	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	Missense_Mutation	SNP	C	T	T	rs688852	by1000genomes	TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr17:16734855C>T	uc010vwr.1	-	2	720	c.278G>A	c.(277-279)cGg>cAg	p.R93Q						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.									p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632000														26			3		0	0	0.014758	0	0
PIK3R1	5295	broad.mit.edu	37	5	67588178	67588178	+	Silent	SNP	A	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:67588178A>G	uc003jva.3	+	7	1588	c.1008A>G	c.(1006-1008)ggA>ggG	p.G336G	PIK3R1_uc003jvc.3_Silent_p.G36G|PIK3R1_uc003jvd.3_Silent_p.G66G|PIK3R1_uc003jve.3_Silent_p.G15G|PIK3R1_uc021xzn.1_5'Flank|PIK3R1_uc011crb.2_5'Flank	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	336	SH2 1.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GGTACTGGGGAGATATCTCGA	0.393000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				133			64		0	0	0.139131	0	0
RICTOR	253260	broad.mit.edu	37	5	38954924	38954924	+	Nonsense_Mutation	SNP	A	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:38954924A>C	uc003jlo.2	-	26	2671	c.2649T>G	c.(2647-2649)taT>taG	p.Y883*	RICTOR_uc003jlp.2_Nonsense_Mutation_p.Y883*|RICTOR_uc010ivf.2_Nonsense_Mutation_p.Y598*	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	883					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTAGTTGTCCATAAAGGTGTA	0.313000														73			122		0	0	0.139131	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														60			4		0	0	0.009096	0	0
SLC3A1	6519	broad.mit.edu	37	2	44508525	44508525	+	Splice_Site	SNP	G	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:44508525G>C	uc002ruc.4	+	3	689	c.611_splice	c.e3-1	p.G204_splice	SLC3A1_uc002rty.3_Splice_Site_p.G204_splice|SLC3A1_uc002rtz.2_Splice_Site_p.G204_splice|SLC3A1_uc002rua.3_Splice_Site_p.G204_splice|SLC3A1_uc002rub.2_Splice_Site_p.G204_splice	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	204					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTACTCATTAGGTTTAAAATT	0.353000														32			29		0	0	0.125774	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128963040	128963040	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chrX:128963040G>T	uc004euv.3	-	2	707	c.245C>A	c.(244-246)aCa>aAa	p.T82K	ZDHHC9_uc004euw.3_Missense_Mutation_p.T82K|ZDHHC9_uc004eux.1_Missense_Mutation_p.T82K|ZDHHC9_uc004euy.1_Missense_Mutation_p.T9K	NM_001008222	NP_057116	Q9Y397	ZDHC9_HUMAN	Homo sapiens zinc finger, DHHC-type containing 9 (ZDHHC9), transcript variant 2, mRNA.	82						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CCTCAACAGTGTAGCCATGGA	0.522000														2			67		4.38816e-42	5.30662e-42	0.139131	1	0
MRPL46	26589	broad.mit.edu	37	15	89008985	89008985	+	Missense_Mutation	SNP	A	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr15:89008985A>G	uc002bmj.2	-	1	273	c.248T>C	c.(247-249)cTg>cCg	p.L83P	MRPL46_uc002bmi.1_5'UTR|MRPS11_uc002bmm.3_5'Flank|MRPS11_uc002bmn.3_5'Flank|MRPS11_uc010bnj.3_5'Flank|MRPS11_uc002bml.3_5'Flank	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA.	83						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GTCTGAATACAGGCTTCTCTC	0.388000														116			3		0	0	0.115264	0	0
CNDP2	55748	broad.mit.edu	37	18	72179734	72179734	+	Missense_Mutation	SNP	C	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr18:72179734C>A	uc002llm.2	+	6	968	c.709C>A	c.(709-711)Cat>Aat	p.H237N	CNDP2_uc002lln.2_Missense_Mutation_p.H153N	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	237						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGGCTCGGTGCATGAGGCCAT	0.562000														51			31		4.34311e-12	4.96355e-12	0.059317	1	0
CNTN3	5067	broad.mit.edu	37	3	74350871	74350871	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:74350871G>T	uc003dpm.1	-	13	1952	c.1872C>A	c.(1870-1872)aaC>aaA	p.N624K		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	624	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGGGCTATGGTTGTCTTTAC	0.468000														51			42		6.2361e-21	7.45465e-21	0.098360	1	0
HNRPLL	92906	broad.mit.edu	37	2	38791355	38791355	+	Missense_Mutation	SNP	T	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:38791355T>A	uc021vgc.1	-	12	2008	c.1598A>T	c.(1597-1599)aAg>aTg	p.K533M	HNRPLL_uc002rqv.3_Missense_Mutation_p.K228M|HNRPLL_uc021vgb.1_Missense_Mutation_p.K528M	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L-like (HNRPLL), transcript variant 1, mRNA.	533					mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(2)	10		all_hematologic(82;0.248)				AAAGCAAAGCTTCAATGTATA	0.289000														62			57		0	0	0.139131	0	0
C7orf43	55262	broad.mit.edu	37	7	99753405	99753405	+	Silent	SNP	G	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr7:99753405G>A	uc003utr.3	-	8	1464	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A	C7orf43_uc010lgo.3_Silent_p.A54A|C7orf43_uc010lgp.3_Silent_p.A50A|C7orf43_uc011kjj.2_Silent_p.A196A|C7orf43_uc003uts.3_Silent_p.A159A	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	Homo sapiens chromosome 7 open reading frame 43 (C7orf43), mRNA.	428										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGAGTCCAGGGCAGCCTGCA	0.637000														42			44		0	0	0.124865	0	0
SCN11A	11280	broad.mit.edu	37	3	38889146	38889146	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:38889146C>T	uc021wvy.1	-	25	4614	c.4415G>A	c.(4414-4416)cGa>cAa	p.R1472Q		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1472					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCTCAGGATTCGGCCAATCCG	0.498000														24			3		0	0	0.009096	0	0
NR1D2	9975	broad.mit.edu	37	3	24003534	24003534	+	Missense_Mutation	SNP	T	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:24003534T>G	uc003ccs.2	+	4	903	c.584T>G	c.(583-585)aTg>aGg	p.M195R	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Missense_Mutation_p.M120R	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	195					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CAAAGTGCAATGAAGACCATG	0.413000														30			19		0	0	0.062417	0	0
MYO7A	4647	broad.mit.edu	37	11	76867021	76867021	+	Silent	SNP	C	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr11:76867021C>T	uc001oyb.2	+	4	626	c.354C>T	c.(352-354)caC>caT	p.H118H	MYO7A_uc010rsl.2_Silent_p.H118H|MYO7A_uc010rsm.1_Silent_p.H107H|MYO7A_uc001oyc.2_Silent_p.H118H	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	118	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CGCCAGAGCACATCCGCCAGT	0.562000														3			7		0	0	0.047766	0	0
LOC650293	650293	broad.mit.edu	37	4	8951612	8951612	+	Missense_Mutation	SNP	C	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr4:8951612C>G	uc011bwm.2	+	0	136	c.136C>G	c.(136-138)Ccc>Gcc	p.P46A		NM_001040071	NP_001035160	Q8NGT4	Q8NGT4_HUMAN	Homo sapiens seven transmembrane helix receptor (LOC650293), mRNA.	46						integral to membrane	olfactory receptor activity										GGCCATGGTTCCCAAGATGAT	0.522000														5			6		0	0	0.038147	0	0
C1orf54	79630	broad.mit.edu	37	1	150246559	150246559	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr1:150246559T>C	uc001euc.3	+	2	179	c.116T>C	c.(115-117)gTc>gCc	p.V39A	C1orf54_uc001eud.3_Missense_Mutation_p.V39A|C1orf54_uc001eue.3_Missense_Mutation_p.V39A	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	Homo sapiens chromosome 1 open reading frame 54 (C1orf54), mRNA.	39						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TATTATACAGTCACCCCCAGT	0.438000														150			3		0	0	0.009096	0	0
PLEC	5339	broad.mit.edu	37	8	144995793	144995793	+	Silent	SNP	C	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr8:144995793C>T	uc003zaf.1	-	31	8777	c.8607G>A	c.(8605-8607)gcG>gcA	p.A2869A	PLEC_uc003zab.1_Silent_p.A2732A|PLEC_uc003zac.1_Silent_p.A2736A|PLEC_uc003zad.2_Silent_p.A2732A|PLEC_uc003zae.1_Silent_p.A2700A|PLEC_uc003zag.1_Silent_p.A2710A|PLEC_uc003zah.2_Silent_p.A2718A|PLEC_uc003zaj.2_Silent_p.A2759A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2869	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGGCCGCCTGCGCCTCCAGCA	0.667000														42			3		0	0	0.115264	0	0
ATP10B	23120	broad.mit.edu	37	5	160113262	160113262	+	Missense_Mutation	SNP	G	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:160113262G>C	uc003lym.1	-	5	1141	c.294C>G	c.(292-294)ttC>ttG	p.F98L	ATP10B_uc003lyp.2_Missense_Mutation_p.F98L|ATP10B_uc011deg.1_Missense_Mutation_p.F142L|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	98					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGAACAGGAAATAGAGGT	0.453000														37			10		0	0	0.080935	0	0
MRPS5	64969	broad.mit.edu	37	2	95753148	95753148	+	Missense_Mutation	SNP	C	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:95753148C>G	uc002sub.3	-	11	1465	c.1247G>C	c.(1246-1248)gGa>gCa	p.G416A	MRPS5_uc002suc.3_Non-coding_Transcript	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	416					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCGCTTCATTCCCTGTGCAGT	0.572000														41			35		0	0	0.054565	0	0
TNPO3	23534	broad.mit.edu	37	7	128626935	128626935	+	Missense_Mutation	SNP	T	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr7:128626935T>A	uc010lly.2	-	11	2043	c.1640A>T	c.(1639-1641)aAg>aTg	p.K547M	TNPO3_uc010llx.2_5'Flank|TNPO3_uc003vol.2_Missense_Mutation_p.K513M|TNPO3_uc010llz.2_Intron|TNPO3_uc003vom.2_Missense_Mutation_p.K447M	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	513					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AGCCAGGGGCTTTTCACACAG	0.453000														45			63		0	0	0.139131	0	0
TTC3	7267	broad.mit.edu	37	21	38536463	38536463	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr21:38536463G>A	uc002yvz.3	+	31	3386	c.3281G>A	c.(3280-3282)cGc>cAc	p.R1094H	TTC3_uc011aee.1_Missense_Mutation_p.R784H|TTC3_uc002ywa.3_Missense_Mutation_p.R1094H|TTC3_uc002ywb.3_Missense_Mutation_p.R1094H|TTC3_uc010gnf.3_Missense_Mutation_p.R859H|TTC3_uc002ywc.3_Missense_Mutation_p.R784H|TTC3_uc002ywd.1_Missense_Mutation_p.R158H	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1094					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TATGTTGTCCGCAATAAGAAG	0.393000														89			4		0	0	0.009096	0	0
TBL2	26608	broad.mit.edu	37	7	72985195	72985195	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr7:72985195G>T	uc003tyh.3	-	6	1120	c.986C>A	c.(985-987)gCg>gAg	p.A329E	TBL2_uc011kex.2_Missense_Mutation_p.A293E|TBL2_uc010lbg.3_Missense_Mutation_p.A234E|TBL2_uc003tyi.3_Missense_Mutation_p.A164E|TBL2_uc011key.2_Missense_Mutation_p.A200E	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	329								p.A329G(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGCACCCGCCGCCTCTTCAAA	0.597000														101			7		8.12818e-05	8.62583e-05	0.029380	1	0
C12orf26	84190	broad.mit.edu	37	12	82752495	82752495	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr12:82752495G>A	uc001szq.3	+	0	220	c.151G>A	c.(151-153)Gtc>Atc	p.V51I	CCDC59_uc001szp.4_5'Flank|CCDC59_uc021rbm.1_Non-coding_Transcript	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA.	51										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	19						GGAGGAGCTGGTCGACTTGCC	0.602000											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			30		0	0	0.045705	0	0
GAB2	9846	broad.mit.edu	37	11	77991912	77991912	+	Silent	SNP	G	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr11:77991912G>A	uc001ozh.3	-	1	213	c.111C>T	c.(109-111)ggC>ggT	p.G37G	GAB2_uc001ozg.3_5'UTR	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	37	PH.				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGCTCATCCGGCCACTCCGCA	0.463000														129			5		0	0	0.029380	0	0
PARL	55486	broad.mit.edu	37	3	183551347	183551347	+	Missense_Mutation	SNP	C	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:183551347C>G	uc003fmd.3	-	8	1020	c.961G>C	c.(961-963)Gca>Cca	p.A321P	PARL_uc003fme.3_Missense_Mutation_p.A271P	NM_018622	NP_061092	Q9H300	PARL_HUMAN	Homo sapiens presenilin associated, rhomboid-like (PARL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	321					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATCATTCCTGCTGTATCCATG	0.448000														49			33		0	0	0.086207	0	0
CACNA1A	773	broad.mit.edu	37	19	13397703	13397703	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr19:13397703C>T	uc002mwy.3	-	19	3403	c.3167G>A	c.(3166-3168)cGc>cAc	p.R1056H	CACNA1A_uc010dzc.2_Missense_Mutation_p.R582H|CACNA1A_uc010xnd.2_Missense_Mutation_p.R1059H|CACNA1A_uc021ups.1_Missense_Mutation_p.R1056H|CACNA1A_uc010xne.2_Missense_Mutation_p.R1059H|CACNA1A_uc010dze.2_Missense_Mutation_p.R1056H|CACNA1A_uc021upt.1_Missense_Mutation_p.R1057H	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1057					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGGTCTTGGCGGCCCAGGTC	0.642000														40			7		0	0	0.038147	0	0
TGM4	7047	broad.mit.edu	37	3	44935102	44935102	+	Missense_Mutation	SNP	G	A	A	rs147559877		TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:44935102G>A	uc003coc.4	+	4	537	c.464G>A	c.(463-465)cGc>cAc	p.R155H	TGM4_uc003cob.2_Non-coding_Transcript	NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	155					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R155C(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GAGGACGAGCGCAAAGAGTAC	0.507000														43			30		0	0	0.134883	0	0
LRRN3	54674	broad.mit.edu	37	7	110763780	110763780	+	Missense_Mutation	SNP	A	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr7:110763780A>G	uc003vft.4	+	3	1998	c.952A>G	c.(952-954)Aac>Gac	p.N318D	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.N318D|LRRN3_uc003vfs.4_Missense_Mutation_p.N318D|LRRN3_uc022akc.1_Missense_Mutation_p.N318D	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	318						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGAAGCTACTAACAACCCTAG	0.418000														43			53		0	0	0.139131	0	0
ZNF169	169841	broad.mit.edu	37	9	97063238	97063238	+	Silent	SNP	C	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:97063238C>T	uc022bki.1	+	3	1456	c.1401C>T	c.(1399-1401)ggC>ggT	p.G467G	ZNF169_uc004aum.1_Silent_p.G466G	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	466						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GTGGGCGTGGCTTTGGTCAGA	0.577000														34			37		0	0	0.064281	0	0
C12orf63	374467	broad.mit.edu	37	12	97137640	97137640	+	Silent	SNP	A	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr12:97137640A>T	uc021rcc.1	+	20	2862	c.2784A>T	c.(2782-2784)acA>acT	p.T928T				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	928										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTTCAAAAACAGGAAAATTAA	0.393000														34			35		0	0	0.080422	0	0
GBA2	57704	broad.mit.edu	37	9	35739010	35739010	+	Missense_Mutation	SNP	A	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:35739010A>G	uc011lpd.2	-	11	2301	c.1802T>C	c.(1801-1803)aTt>aCt	p.I601T	GBA2_uc003zxw.3_Missense_Mutation_p.I595T|GBA2_uc003zxx.1_5'Flank|GBA2_uc011lpb.1_Missense_Mutation_p.I595T|GBA2_uc011lpc.1_Missense_Mutation_p.I595T|GBA2_uc003zxy.1_Missense_Mutation_p.I308T	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.	595					O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGTCCCCAATATCATGGGG	0.572000														14			16		0	0	0.033300	0	0
ATP10B	23120	broad.mit.edu	37	5	160113261	160113261	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:160113261G>T	uc003lym.1	-	5	1142	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	ATP10B_uc003lyp.2_Missense_Mutation_p.L99M|ATP10B_uc011deg.1_Missense_Mutation_p.L143M|ATP10B_uc003lyo.2_5'Flank	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	99					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCAGGAACAGGAAATAGAGG	0.448000														37			10		2.80697e-09	3.0729e-09	0.080935	1	0
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	A	A	rs147918555		TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr20:46279830G>A	uc002xtk.3	+	19	4017	c.3756G>A	c.(3754-3756)caG>caA	p.Q1252Q	NCOA3_uc002xtl.3_Silent_p.Q1248Q|NCOA3_uc002xtn.3_Silent_p.Q1251Q|NCOA3_uc010ght.2_Silent_p.Q1243Q|NCOA3_uc002xtm.3_Silent_p.Q1247Q|NCOA3_uc010zyc.2_Silent_p.Q1047Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1252	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1252Q(6)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547000														64			6		0	0	0.021553	0	0
BTNL8	79908	broad.mit.edu	37	5	180374575	180374575	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:180374575G>A	uc003mmp.3	+	3	971	c.737G>A	c.(736-738)gGc>gAc	p.G246D	BTNL8_uc003mmq.3_Missense_Mutation_p.G246D|BTNL8_uc010jll.3_Missense_Mutation_p.G246D|BTNL8_uc011dhg.2_Missense_Mutation_p.G121D|BTNL8_uc010jlm.3_Missense_Mutation_p.G130D|BTNL8_uc011dhh.2_Missense_Mutation_p.G62D	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	246						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTGCTGTGGCCTATTTTTT	0.443000														234			427		0	0	0.139131	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53636027	53636027	+	Missense_Mutation	SNP	C	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr16:53636027C>A	uc002ehp.3	-	26	3973	c.3909G>T	c.(3907-3909)caG>caT	p.Q1303H	RPGRIP1L_uc002eho.4_Missense_Mutation_p.Q1223H|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.Q1257H|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.Q1269H	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	1303					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGTAGACAGACTGGAGGGCAT	0.468000														29			62		5.52965e-18	6.46161e-18	0.139131	1	0
MYOC	4653	broad.mit.edu	37	1	171605341	171605341	+	Silent	SNP	G	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr1:171605341G>C	uc001ghu.3	-	2	1261	c.1239C>G	c.(1237-1239)ctC>ctG	p.L413L	MYOC_uc010pmk.2_Silent_p.L355L	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	413	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGGTTTGTTCGAGTTCCAGAT	0.522000														77			53		0	0	0.139131	0	0
BCL2L13	23786	broad.mit.edu	37	22	18138590	18138590	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr22:18138590C>T	uc002zmw.3	+	1	331	c.113C>T	c.(112-114)tCa>tTa	p.S38L	BCL2L13_uc002zmu.3_Missense_Mutation_p.S38L|BCL2L13_uc002zmx.3_5'UTR|BCL2L13_uc002zmy.3_Missense_Mutation_p.S38L|BCL2L13_uc010gqy.3_5'UTR|BCL2L13_uc011agk.2_Missense_Mutation_p.H26Y|BCL2L13_uc010gqz.3_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	Homo sapiens BCL2-like 13 (apoptosis facilitator) (BCL2L13), nuclear gene encoding mitochondrial protein, mRNA.	38					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CATCTTTCCTCACCCCAAGGT	0.358000														0			28		0	0	0.134883	0	0
PIK3R1	5295	broad.mit.edu	37	5	67591286	67591286	+	Missense_Mutation	SNP	A	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:67591286A>T	uc003jva.3	+	13	2364	c.1784A>T	c.(1783-1785)aAc>aTc	p.N595I	PIK3R1_uc003jvc.3_Missense_Mutation_p.N295I|PIK3R1_uc003jvd.3_Missense_Mutation_p.N325I|PIK3R1_uc003jve.3_Missense_Mutation_p.N274I|PIK3R1_uc021xzn.1_Missense_Mutation_p.N232I|PIK3R1_uc011crb.2_Missense_Mutation_p.N265I	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	595					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(8)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAGAAGTTGAACGAGTGGTTG	0.368000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				69			33		0	0	0.054565	0	0
C8orf76	84933	broad.mit.edu	37	8	124243792	124243792	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr8:124243792G>T	uc003yqc.2	-	3	615	c.563C>A	c.(562-564)tCt>tAt	p.S188Y	C8orf76_uc003yqd.3_Missense_Mutation_p.S156Y	NM_032847	NP_116236	Q96K31	CH076_HUMAN	Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA.	188							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGTTTCTGAGATGACGCAAG	0.438000														172			6		0.00116845	0.00122746	0.021553	1	0
ZSCAN22	342945	broad.mit.edu	37	19	58849878	58849878	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr19:58849878G>A	uc002qsc.2	+	2	809	c.662G>A	c.(661-663)cGt>cAt	p.R221H	ZSCAN22_uc010yhz.1_Missense_Mutation_p.V216M	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	221					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CAGCGTGGCCGTGAATCTGGT	0.512000														238			7		0	0	0.038147	0	0
MYCBP2	23077	broad.mit.edu	37	13	77799654	77799654	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr13:77799654T>C	uc021rks.1	-	18	3040	c.2773A>G	c.(2773-2775)Aaa>Gaa	p.K925E	MYCBP2_uc010aev.3_Missense_Mutation_p.K291E	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	887					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GTTGTGATTTTGCTTGCATCC	0.413000														67			55		0	0	0.139131	0	0
LZTFL1	54585	broad.mit.edu	37	3	45874547	45874547	+	Missense_Mutation	SNP	T	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:45874547T>G	uc003cox.1	-	4	589	c.451A>C	c.(451-453)Aac>Cac	p.N151H	LZTFL1_uc003coy.1_Missense_Mutation_p.N134H|LZTFL1_uc011bak.1_Non-coding_Transcript	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN	Homo sapiens leucine zipper transcription factor-like 1 (LZTFL1), mRNA.	151										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ATTACCTTGTTTAGGAGTTCT	0.393000														55			31		0	0	0.144211	0	0
PIK3CB	5291	broad.mit.edu	37	3	138456588	138456588	+	Silent	SNP	T	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:138456588T>C	uc011bmq.2	-	3	762	c.762A>G	c.(760-762)gtA>gtG	p.V254V		NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	254	PI3K-RBD.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAACATATTCTACTCTCCCGC	0.318000														38			46		0	0	0.139131	0	0
ZNF780B	163131	broad.mit.edu	37	19	40541550	40541550	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr19:40541550G>T	uc002omu.3	-	4	1281	c.1216C>A	c.(1216-1218)Caa>Aaa	p.Q406K	ZNF780B_uc002omv.3_Missense_Mutation_p.Q258K	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCTGGTGTTGAATAAGGTTT	0.358000														87			71		3.19223e-45	3.90579e-45	0.139131	1	0
ABLIM1	3983	broad.mit.edu	37	10	116225561	116225561	+	Missense_Mutation	SNP	A	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr10:116225561A>G	uc021pyx.1	-	11	1436	c.1337T>C	c.(1336-1338)aTg>aCg	p.M446T	ABLIM1_uc021pyw.1_Missense_Mutation_p.M446T|ABLIM1_uc021pyy.1_Missense_Mutation_p.M414T|ABLIM1_uc021pyz.1_Missense_Mutation_p.M380T|ABLIM1_uc021pza.1_Missense_Mutation_p.M386T|ABLIM1_uc021pze.1_Missense_Mutation_p.M370T|ABLIM1_uc021pzf.1_Missense_Mutation_p.M408T|ABLIM1_uc021pyv.1_Missense_Mutation_p.M151T|ABLIM1_uc021pzb.1_Missense_Mutation_p.M123T|ABLIM1_uc021pzc.1_Missense_Mutation_p.M97T|ABLIM1_uc021pzd.1_Missense_Mutation_p.M294T|ABLIM1_uc021pyu.1_Missense_Mutation_p.M158T	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	446					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCGATGGATCATCCGATCCCG	0.557000														71			74		0	0	0.139131	0	0
ODZ1	10178	broad.mit.edu	37	X	123519705	123519705	+	Silent	SNP	G	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chrX:123519705G>T	uc010nqy.3	-	28	5962	c.5898C>A	c.(5896-5898)acC>acA	p.T1966T	ODZ1_uc011muj.2_Silent_p.T1965T|ODZ1_uc004euj.3_Silent_p.T1959T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1959					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CCAGATGCAGGGTCTGTAGCA	0.488000														89			19		8.34094e-07	8.94286e-07	0.049695	1	0
ZNF320	162967	broad.mit.edu	37	19	53384942	53384942	+	Missense_Mutation	SNP	A	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr19:53384942A>G	uc002qag.3	-	3	628	c.437T>C	c.(436-438)tTg>tCg	p.L146S	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.L92S|ZNF320_uc002qai.3_Missense_Mutation_p.L146S	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCGCAAATGCAAATGAAATCT	0.348000														91			69		0	0	0.139131	0	0
GPR137	56834	broad.mit.edu	37	11	64056826	64056826	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr11:64056826C>T	uc010rni.2	+	8	1445	c.1417C>T	c.(1417-1419)Ccg>Tcg	p.P473S	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.P415S|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	415						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGAGCTTGTGCCGTCCCCCTA	0.647000														112			4		0	0	0.009096	0	0
PROSER1	80209	broad.mit.edu	37	13	39587414	39587414	+	Missense_Mutation	SNP	C	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr13:39587414C>A	uc001uwy.3	-	10	2848	c.1975G>T	c.(1975-1977)Gca>Tca	p.A659S	PROSER1_uc001uwz.3_Missense_Mutation_p.A637S	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	659	Ser-rich.																CCTGACAATGCAGGATTAAGG	0.478000														45			46		8.20599e-20	9.69798e-20	0.124865	1	0
MYO1F	4542	broad.mit.edu	37	19	8609279	8609279	+	Missense_Mutation	SNP	C	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr19:8609279C>A	uc002mkg.3	-	13	1564	c.1426G>T	c.(1426-1428)Gac>Tac	p.D476Y		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	476	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGTGTCTGGTCTGCTCCCCCG	0.677000														21			21		3.62473e-10	4.09752e-10	0.062417	1	0
CRAMP1L	57585	broad.mit.edu	37	16	1718163	1718163	+	Silent	SNP	C	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr16:1718163C>T	uc010uvh.2	+	16	3303	c.3303C>T	c.(3301-3303)atC>atT	p.I1101I	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	1101	Ser-rich.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCGACTCCATCATTGAGATCG	0.607000														69			28		0	0	0.045705	0	0
USP4	7375	broad.mit.edu	37	3	49362339	49362339	+	Silent	SNP	T	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:49362339T>C	uc003cwq.2	-	4	700	c.621A>G	c.(619-621)ctA>ctG	p.L207L	USP4_uc003cwr.2_Silent_p.L207L|USP4_uc021wxv.1_Silent_p.L207L	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	207					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GACCCTGGTATAGCCCAGCAT	0.547000														94			79		0	0	0.139131	0	0
ACSL6	23305	broad.mit.edu	37	5	131324510	131324510	+	Missense_Mutation	SNP	T	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:131324510T>A	uc003kvx.2	-	5	749	c.640A>T	c.(640-642)Atc>Ttc	p.I214F	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.I179F|ACSL6_uc003kvy.2_Missense_Mutation_p.I214F|ACSL6_uc003kvz.2_Missense_Mutation_p.I154F|ACSL6_uc021ydh.1_Missense_Mutation_p.I154F|ACSL6_uc010jdo.2_Missense_Mutation_p.I189F|ACSL6_uc003kwa.2_Missense_Mutation_p.I200F|ACSL6_uc010jdn.2_Missense_Mutation_p.I189F|ACSL6_uc010jdp.1_5'Flank	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	189					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTATTGATGATGTAGCGGATA	0.572000														161			83		0	0	0.139131	0	0
WASH1	100287171	broad.mit.edu	37	9	17011	17011	+	Silent	SNP	T	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:17011T>C	uc010mgm.1	-	6	980	c.837A>G	c.(835-837)ccA>ccG	p.P279P	WASH1_uc022bcs.1_Non-coding_Transcript|WASH1_uc011llq.1_Non-coding_Transcript|WASH1_uc003zfu.1_Silent_p.P292P	NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.	279					Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	WASH complex|early endosome membrane|recycling endosome membrane	actin binding|alpha-tubulin binding					all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TGGGCAGTTCTGGAATGGTGC	0.642000														14			3		0	0	0.029380	0	0
GSN	2934	broad.mit.edu	37	9	124074615	124074615	+	Splice_Site	SNP	A	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:124074615A>T	uc004blf.1	+	5	728	c.667_splice	c.e5-2	p.N223_splice	GSN_uc004bld.1_Splice_Site_p.N172_splice|GSN_uc010mvr.1_Splice_Site_p.N183_splice|GSN_uc010mvq.1_Splice_Site_p.N183_splice|GSN_uc010mvu.1_Splice_Site_p.N172_splice|GSN_uc010mvt.1_Splice_Site_p.N172_splice|GSN_uc010mvs.1_Splice_Site_p.N172_splice|GSN_uc004ble.1_Splice_Site_p.N172_splice|GSN_uc010mvv.1_Splice_Site_p.N172_splice|GSN_uc011lyh.1_Splice_Site_p.N189_splice|GSN_uc011lyi.1_Splice_Site_p.N172_splice|GSN_uc011lyj.1_Splice_Site_p.N196_splice|GSN_uc004blg.1_5'UTR	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	223					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TCTGTCTTCCAGAACATCCAC	0.612000														121			7		0	0	0.047766	0	0
MTCH1	23787	broad.mit.edu	37	6	36949411	36949411	+	Missense_Mutation	SNP	T	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr6:36949411T>A	uc003one.4	-	1	359	c.359A>T	c.(358-360)aAt>aTt	p.N120I	MTCH1_uc003onc.1_Missense_Mutation_p.N120I|MTCH1_uc010jwo.1_Non-coding_Transcript|MTCH1_uc003ond.1_Missense_Mutation_p.N120I|MTCH1_uc011dtt.2_Intron	NM_014341	NP_055156	Q9NZJ7	MTCH1_HUMAN	Homo sapiens mitochondrial carrier 1 (MTCH1), nuclear gene encoding mitochondrial protein, mRNA.	120					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CCCCAGCACATTGGTCCCAAG	0.562000														0			18		0	0	0.038395	0	0
IL1RL2	8808	broad.mit.edu	37	2	102836361	102836361	+	Missense_Mutation	SNP	A	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:102836361A>C	uc002tbs.3	+	7	1001	c.875A>C	c.(874-876)gAa>gCa	p.E292A	IL1RL2_uc002tbt.3_Missense_Mutation_p.E174A	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	292	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCTTTTCGGGAACATAATTTG	0.358000														50			34		0	0	0.059317	0	0
WNT10A	80326	broad.mit.edu	37	2	219754716	219754716	+	Missense_Mutation	SNP	G	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:219754716G>C	uc002vjd.1	+	2	850	c.387G>C	c.(385-387)gaG>gaC	p.E129D		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	129					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTTCCGAGAGAGCGCTTTTG	0.582000														55			36		0	0	0.098360	0	0
OBSCN	84033	broad.mit.edu	37	1	228473855	228473855	+	Silent	SNP	G	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr1:228473855G>C	uc009xez.1	+	33	9125	c.9081G>C	c.(9079-9081)cgG>cgC	p.R3027R	OBSCN_uc001hsn.3_Silent_p.R3027R|OBSCN_uc001hsq.1_Silent_p.R283R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3027	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCGTTGCCGGATCTCCCCGG	0.627000														5			11		0	0	0.080935	0	0
TRIO	7204	broad.mit.edu	37	5	14471560	14471560	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:14471560C>T	uc003jff.3	+	37	5903	c.5897C>T	c.(5896-5898)tCt>tTt	p.S1966F	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.S1615F	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1966					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAATCCAGCTCTTTAAAGAGA	0.438000														27			75		0	0	0.139131	0	0
ENAM	10117	broad.mit.edu	37	4	71510231	71510231	+	Missense_Mutation	SNP	C	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr4:71510231C>T	uc011caw.1	+	8	3369	c.3088C>T	c.(3088-3090)Cca>Tca	p.P1030S		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1030					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGGCTCCAATCCAGAAGGCAT	0.433000														60			59		0	0	0.139131	0	0
BIRC6	57448	broad.mit.edu	37	2	32667276	32667276	+	Missense_Mutation	SNP	A	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:32667276A>C	uc010ezu.3	+	17	4222	c.4088A>C	c.(4087-4089)cAt>cCt	p.H1363P		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1363					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.R1362H(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCTGGAGTTCATTCAAATGGA	0.383000														28			34		0	0	0.050027	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29488737	29488737	+	Missense_Mutation	SNP	T	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr18:29488737T>G	uc002kxc.4	-	6	1466	c.1102A>C	c.(1102-1104)Att>Ctt	p.I368L	TRAPPC8_uc002kxb.4_Missense_Mutation_p.I314L|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Missense_Mutation_p.I368L|TRAPPC8_uc002kxe.2_Missense_Mutation_p.I368L	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	368					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATTGCCTAATTGTTTTCTCT	0.284000														38			28		0	0	0.116897	0	0
ZNF236	7776	broad.mit.edu	37	18	74561610	74561610	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr18:74561610G>A	uc002lmi.3	+	1	376	c.178G>A	c.(178-180)Gag>Aag	p.E60K	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Missense_Mutation_p.E60K	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	60					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGGGATCACGAGCGAAATGA	0.358000														44			33		0	0	0.059317	0	0
ELMO3	79767	broad.mit.edu	37	16	67236330	67236330	+	Missense_Mutation	SNP	T	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr16:67236330T>G	uc002esa.3	+	13	1494	c.1451T>G	c.(1450-1452)aTg>aGg	p.M484R	ELMO3_uc002esb.3_Missense_Mutation_p.M467R|ELMO3_uc002esc.3_Missense_Mutation_p.M318R|MIR328_uc010vjf.1_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	431					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TTCTCACCCATGTTCTTCGGC	0.597000														179			17		0	0	0.049695	0	0
MTRR	4552	broad.mit.edu	37	5	7873543	7873543	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:7873543G>A	uc003jed.3	+	2	298	c.268G>A	c.(268-270)Gga>Aga	p.G90R	MTRR_uc010itn.1_Intron|MTRR_uc003jee.4_Missense_Mutation_p.G63R|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Intron|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	90	Flavodoxin-like.				methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CACGGGCACCGGAGACCCACC	0.478000														179			68		0	0	0.139131	0	0
TRIM22	10346	broad.mit.edu	37	11	5717510	5717510	+	Silent	SNP	C	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr11:5717510C>T	uc001mbr.3	+	1	427	c.48C>T	c.(46-48)ccC>ccT	p.P16P	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Silent_p.P16P|TRIM22_uc010qzm.2_5'UTR|TRIM22_uc009yes.3_Silent_p.P16P	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	16					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGACCTGCCCCATCTGCCTGG	0.502000														27			31		0	0	0.059317	0	0
PLK1S1	55857	broad.mit.edu	37	20	21142793	21142793	+	Silent	SNP	T	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr20:21142793T>A	uc002wsb.3	+	4	820	c.687T>A	c.(685-687)tcT>tcA	p.S229S	PLK1S1_uc010zsh.2_Silent_p.S126S|PLK1S1_uc010zsi.2_Silent_p.S96S|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	229					spindle organization	centrosome	protein kinase binding										GAAAGGCATCTCTTCAGATTG	0.433000														38			131		0	0	0.139131	0	0
COCH	1690	broad.mit.edu	37	14	31355476	31355476	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr14:31355476T>C	uc001wqr.2	+	10	1515	c.1435T>C	c.(1435-1437)Tat>Cat	p.Y479H	COCH_uc001wqp.2_Missense_Mutation_p.Y479H|COCH_uc001wqq.4_Missense_Mutation_p.Y479H|LOC100506071_uc001wqs.3_Non-coding_Transcript|COCH_uc001wqt.1_Missense_Mutation_p.Y330H	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	479	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TGGGCAGTCCTATGATGATGT	0.453000														38			34		0	0	0.054565	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137389	140137389	+	Missense_Mutation	SNP	T	C	C			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:140137389T>C	uc004cmh.1	+	3	821	c.719T>C	c.(718-720)cTg>cCg	p.L240P	TUBB4B_uc004cmg.1_Missense_Mutation_p.L94P	NM_006088	NP_006079	P68371	TBB2C_HUMAN	Homo sapiens tubulin, beta 4B class IVb (TUBB4B), mRNA.	240					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|cellular component movement|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										ACCACCTGCCTGCGCTTCCCA	0.592000														19			21		0	0	0.055883	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800733	74800733	+	Missense_Mutation	SNP	G	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr11:74800733G>A	uc010rro.2	-	0	26	c.26C>T	c.(25-27)tCa>tTa	p.S9L		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GCCATCCACTGATTCATTACA	0.473000														34			32		0	0	0.080422	0	0
YTHDC1	91746	broad.mit.edu	37	4	69203291	69203291	+	Splice_Site	SNP	T	G	G			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr4:69203291T>G	uc003hdx.3	-	3	812	c.459_splice	c.e3+1	p.E153_splice	YTHDC1_uc003hdy.3_Splice_Site_p.E153_splice	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	153										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ATTTACTACCTCAGAACCATC	0.403000														29			32		0	0	0.054565	0	0
NCAM2	4685	broad.mit.edu	37	21	22656582	22656582	+	Missense_Mutation	SNP	G	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr21:22656582G>T	uc002yld.2	+	2	448	c.199G>T	c.(199-201)Gta>Tta	p.V67L	NCAM2_uc011acb.2_Intron|NCAM2_uc011acc.2_Missense_Mutation_p.V92L	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	67	Ig-like C2-type 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.R66K(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AACACAGAGGGTAGTAGTGCA	0.398000														40			22		6.44725e-10	7.20983e-10	0.069288	1	0
FLG	2312	broad.mit.edu	37	1	152279672	152279672	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr1:152279672C>A	uc001ezu.1	-	2	7726	c.7690G>T	c.(7690-7692)Gga>Tga	p.G2564*		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2564	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAACTGGATCCCCAGTTCCTG	0.582000									Ichthyosis					177			196		8.39021e-101	1.0513e-100	0.139131	1	0
RNF168	165918	broad.mit.edu	37	3	196214405	196214405	+	Silent	SNP	G	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr3:196214405G>T	uc003fwq.3	-	2	1018	c.423C>A	c.(421-423)gcC>gcA	p.A141A	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	141	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		ATTCTTCACTGGCTTTGTTTT	0.443000														101			97		2.77303e-49	3.43327e-49	0.139131	1	0
RLF	6018	broad.mit.edu	37	1	40705390	40705391	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr1:40705390_40705391insT	uc001cfc.4	+	7	5047_5048	c.5016_5017insT	c.(5014-5019)ttgaaafs	p.L1672fs	RLF_uc001cfd.4_Frame_Shift_Ins_p.L1363fs	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1672					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGGGAACTTTGAAATGTAATCA	0.411													---	51	---	---	54	---					
DHX57	90957	broad.mit.edu	37	2	39030017	39030017	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:39030017delT	uc002rrf.3	-	22	3956	c.3857delA	c.(3856-3858)aagfs	p.K1286fs	DHX57_uc002rrd.4_Frame_Shift_Del_p.K625fs|DHX57_uc002rre.3_Frame_Shift_Del_p.K719fs	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	1286							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGTTTTTATCTTCTCGTGGTA	0.468													---	113	---	---	83	---					
CASP10	843	broad.mit.edu	37	2	202073930	202073931	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr2:202073930_202073931delTG	uc002uxj.1	+	8	1478_1479	c.1060_1061delTG	c.(1060-1062)tgtfs	p.C354fs	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Frame_Shift_Del_p.C287fs|CASP10_uc002uxk.1_Frame_Shift_Del_p.C311fs|CASP10_uc002uxl.2_Frame_Shift_Del_p.C354fs|CASP10_uc002uxm.2_Frame_Shift_Del_p.C311fs	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	354					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CTTCGTGTTCTGTATTCTGACC	0.515													---	97	---	---	90	---					
KIAA0825	285600	broad.mit.edu	37	5	93856355	93856362	+	Frame_Shift_Del	DEL	AAATTTTT	-	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:93856355_93856362delAAATTTTT	uc011cuk.2	-	4	818_825	c.561_568delAAAAATTT	c.(559-570)caaaaaattttafs	p.Q187fs	KIAA0825_uc003kkp.2_Frame_Shift_Del_p.Q187fs	NM_001145678	NP_001139150	Q8IV33	K0825_HUMAN	Homo sapiens KIAA0825 (KIAA0825), transcript variant 1, mRNA.	187										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTTTCAATAAAATTTTTTGCTGTGAAT	0.322													---	146	---	---	25	---					
MRPL22	29093	broad.mit.edu	37	5	154330411	154330411	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr5:154330411delT	uc003lvy.4	+	2	146	c.108delT	c.(106-108)agtfs	p.S36fs	MRPL22_uc003lvz.4_Intron	NM_014180	NP_001014990	Q9NWU5	RM22_HUMAN	Homo sapiens mitochondrial ribosomal protein L22 (MRPL22), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	36					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)			TCCACACAAGTGCTTCTCTTG	0.398													---	61	---	---	125	---					
GBAS	2631	broad.mit.edu	37	7	56045954	56045955	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr7:56045954_56045955delAC	uc003tre.2	+	1	261_262	c.228_229delAC	c.(226-231)ttacagfs	p.L76fs	GBAS_uc003trf.2_Frame_Shift_Del_p.L76fs	NM_001483	NP_001474	O75323	NIPS2_HUMAN	Homo sapiens glioblastoma amplified sequence (GBAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	76						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATACAAATTACAGTGTGAGTG	0.361													---	70	---	---	80	---					
STMN4	81551	broad.mit.edu	37	8	27097566	27097566	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr8:27097566delT	uc011lak.2	-	5	627	c.513delA	c.(511-513)aaafs	p.K171fs	STMN4_uc003xfj.3_Frame_Shift_Del_p.K171fs|STMN4_uc011lai.2_Frame_Shift_Del_p.K171fs|STMN4_uc011laj.2_Frame_Shift_Del_p.K135fs|STMN4_uc003xfk.3_Frame_Shift_Del_p.K144fs|STMN4_uc010luo.3_Frame_Shift_Del_p.K144fs	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	144					intracellular signal transduction			p.K171T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		TCTGGGCCAGTTTTTCCTTAG	0.517													---	98	---	---	76	---					
AMBP	259	broad.mit.edu	37	9	116837296	116837296	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:116837296delG	uc004bie.4	-	2	544	c.281delC	c.(280-282)acgfs	p.T94fs	AMBP_uc011lxk.2_Frame_Shift_Del_p.T35fs|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	94					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTCCAGACGTCTCCTCACA	0.453													---	53	---	---	46	---					
RABGAP1	23637	broad.mit.edu	37	9	125772734	125772738	+	Frame_Shift_Del	DEL	TTCAG	-	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:125772734_125772738delTTCAG	uc011lzh.2	+	10	1610_1614	c.1476_1480delTTCAG	c.(1474-1482)ccttcagttfs	p.P492fs	RABGAP1_uc004bnl.4_Non-coding_Transcript	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	492					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CAGCCAGTCCTTCAGTTCGCCTGCC	0.400													---	46	---	---	25	---					
ZER1	10444	broad.mit.edu	37	9	131515779	131515779	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr9:131515779delA	uc004bwa.1	-	3	843	c.410delT	c.(409-411)ttcfs	p.F137fs		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA.	137					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TGTACAGCCGAAGAGGCTCAA	0.557													---	34	---	---	26	---					
INCENP	3619	broad.mit.edu	37	11	61916013	61916015	+	In_Frame_Del	DEL	AGA	-	-	rs79863590		TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr11:61916013_61916015delAGA	uc001nsw.1	+	15	2472_2474	c.2270_2272delAGA	c.(2269-2274)gagaag>gag	p.K761del	INCENP_uc009ynw.1_In_Frame_Del_p.K765del|INCENP_uc001nsx.1_In_Frame_Del_p.K757del	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	761					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAACTGGAGGAGAAGAAGAAGAA	0.655													---	8	---	---	7	---					
ZC3H13	23091	broad.mit.edu	37	13	46543501	46543502	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr13:46543501_46543502insT	uc010tfw.1	-	12	3183_3184	c.3177_3178insA	c.(3175-3180)aaagaafs	p.K1059fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Ins_p.K1059fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.K1059fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1059							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GCTGTATCTTCTTTTTTCTGGG	0.475													---	186	---	---	22	---					
MBIP	51562	broad.mit.edu	37	14	36770005	36770006	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr14:36770005_36770006insT	uc001wtm.2	-	7	1000_1001	c.912_913insA	c.(910-915)aaagttfs	p.K304fs	MBIP_uc001wto.2_Frame_Shift_Ins_p.K304fs|MBIP_uc010tpy.1_Frame_Shift_Ins_p.K163fs|MBIP_uc001wtn.2_Frame_Shift_Ins_p.S272fs	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.	304	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GGTGGTTGAACTTTTCTTCTTT	0.243													---	10	---	---	11	---					
CNTNAP4	85445	broad.mit.edu	37	16	76587277	76587278	+	Frame_Shift_Ins	INS	-	GC	GC			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr16:76587277_76587278insGC	uc002fex.1	+	20	3688_3689	c.3549_3550insGC	c.(3547-3552)aaggcafs	p.K1183fs	CNTNAP4_uc002feu.1_Frame_Shift_Ins_p.K1179fs|CNTNAP4_uc002fev.1_Frame_Shift_Ins_p.K1044fs|CNTNAP4_uc010chb.1_Frame_Shift_Ins_p.K1107fs	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1180	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCCCTCTGAAGGCAGCTCTGCA	0.604													---	18	---	---	25	---					
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	-	-	rs138961929		TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr20:4850569delG	uc002wlg.1	-	11	1608	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SLC23A2_uc010zqr.1_Frame_Shift_Del_p.P296fs|SLC23A2_uc002wlh.1_Frame_Shift_Del_p.P411fs|SLC23A2_uc002wli.3_Frame_Shift_Del_p.P410fs	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	411					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527													---	192	---	---	7	---					
NF2	4771	broad.mit.edu	37	22	30067890	30067905	+	Frame_Shift_Del	DEL	AGGCTGCTGCAGATGA	-	-	rs74315492		TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chr22:30067890_30067905delAGGCTGCTGCAGATGA	uc003age.4	+	10	1518_1533	c.1075_1090delAGGCTGCTGCAGATGA	c.(1075-1092)aggctgctgcagatgaaafs	p.R359fs	NF2_uc003afy.4_Frame_Shift_Del_p.R359fs|NF2_uc003afz.4_Frame_Shift_Del_p.R276fs|NF2_uc003agf.4_Frame_Shift_Del_p.R359fs|NF2_uc003agb.4_Frame_Shift_Del_p.R282fs|NF2_uc003agc.4_Frame_Shift_Del_p.R321fs|NF2_uc003agd.4_Intron|NF2_uc003agg.4_Frame_Shift_Del_p.R359fs|NF2_uc003aga.4_Frame_Shift_Del_p.R317fs|NF2_uc003agh.4_Frame_Shift_Del_p.R318fs|NF2_uc003agi.4_Frame_Shift_Del_p.R276fs|NF2_uc003agj.4_Intron|NF2_uc010gvp.3_Splice_Site_p.M27_splice|NF2_uc011akq.2_5'Flank	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	359	Glu-rich.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.Q362*(8)|p.M363fs*12(4)|p.?(3)|p.L361fs*6(2)|p.L361fs*3(2)|p.M334_Q362del(2)|p.K364fs*5(2)|p.M334fs*4(1)|p.K364I(1)|p.L127_D382del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GTTGGAGAGGAGGCTGCTGCAGATGAAAGAAGAAGC	0.565			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				---	16	---	---	22	---					
GAGE2B	645037	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	TAT	TAT			TCGA-EV-5902-01A-11D-1589-08	TCGA-EV-5902-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05c0e7bb-5be8-4e8d-9724-8063e99cc058	c49e0138-d7e1-4094-9d2d-b41239dea126	g.chrX:49208295_49208296insTAT	uc004dnv.4	+	1	140_141	c.24_25insTAT	c.(22-27)insTAT	p.9_10insY	GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY	NM_001127212	NP_001091881			Homo sapiens G antigen 2A (GAGE2A), mRNA.																		GAAGATCGACCTATCGGCCTAG	0.465													---	9	---	---	4	---					
