Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SPTBN1	6711	broad.mit.edu	37	2	54844759	54844759	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:54844759A>G	ENST00000333896.5	+	5	927	c.542A>G	c.(541-543)aAc>aGc	p.N181S	SPTBN1_ENST00000356805.4_Missense_Mutation_p.N194S	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	194	Actin-binding.|CH 2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCCAATGTCAACATTCACAAT	0.438000													16	41					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346705	29346705	+	Silent	SNP	C	C	T	rs111870710	byFrequency	TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr15:29346705C>T	ENST00000558402.1	+	5	1217	c.618C>T	c.(616-618)ggC>ggT	p.G206G	APBA2_ENST00000558259.1_Silent_p.G206G|APBA2_ENST00000558330.1_Silent_p.G206G|APBA2_ENST00000411764.1_Silent_p.G206G|APBA2_ENST00000561069.1_Silent_p.G206G			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	206	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding	p.G206G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGAACACCGGCGCCTCCCCCT	0.607000													5	24					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822623	54822623	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr19:54822623A>G	ENST00000446712.3	-	4	815	c.737T>C	c.(736-738)cTt>cCt	p.L246P	LILRA5_ENST00000301219.3_Intron|LILRA5_ENST00000432233.3_Missense_Mutation_p.L258P|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Intron	NM_181986.2	NP_871715.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	0					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCCTGTAAAGCTCTCCACA	0.512000													23	36					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824431	54824431	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr20:54824431G>C	ENST00000243911.2	+	1	644	c.532G>C	c.(532-534)Gtg>Ctg	p.V178L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	215					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGTGGCGTGGTGTTCATCGT	0.557000													44	76					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55418074	55418074	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr19:55418074G>A	ENST00000594765.1	+	3	289	c.264G>A	c.(262-264)atG>atA	p.M88I	NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.M88I|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.M88I|NCR1_ENST00000338835.5_Missense_Mutation_p.M88I|NCR1_ENST00000598576.1_Missense_Mutation_p.M76I			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	88	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TCCCGGACATGAACTCCCGCA	0.517000													33	62					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47545929	47545929	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr21:47545929C>T	ENST00000300527.4	+	26	2304	c.2200C>T	c.(2200-2202)Cgc>Tgc	p.R734C	COL6A2_ENST00000357838.4_Missense_Mutation_p.R734C|COL6A2_ENST00000397763.1_Missense_Mutation_p.R734C|COL6A2_ENST00000409416.1_Missense_Mutation_p.R734C|COL6A2_ENST00000310645.5_Missense_Mutation_p.R734C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	734	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CACGGACGGGCGCCACGACCC	0.637000													40	105					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													4	66					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104107482	104107482	+	Silent	SNP	C	C	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr12:104107482C>A	ENST00000388887.2	+	42	4677	c.4473C>A	c.(4471-4473)acC>acA	p.T1491T		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1491	EGF-like 12.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTAAGAGAACCACCCCAGGAA	0.542000													79	156					1.34917e-44	1.65881e-44	1	1	0
ATXN1	6310	broad.mit.edu	37	6	16327915	16327915	+	Missense_Mutation	SNP	A	A	C	rs11969612	by1000genomes	TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr6:16327915A>C	ENST00000244769.4	-	8	1563	c.627T>G	c.(625-627)caT>caG	p.H209Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.H209Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	209	Poly-Gln.		H -> Q (in dbSNP:rs11969612).		cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.H209delH(2)|p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgatgctgctgct	0.667000													3	28					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49772367	49772367	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr13:49772367A>G	ENST00000492622.2	+	22	3045	c.2740A>G	c.(2740-2742)Att>Gtt	p.I914V	FNDC3A_ENST00000398316.3_Missense_Mutation_p.I858V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.I914V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	914	Fibronectin type-III 7.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TACAAGCTATATTATCAACAA	0.363000													55	108					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120148383	120148383	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr12:120148383G>T	ENST00000392521.2	-	38	4952	c.4897C>A	c.(4897-4899)Cgt>Agt	p.R1633S	CIT_ENST00000261833.7_Missense_Mutation_p.R1591S|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1591	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATGTCTAGACGGTCATCACCT	0.483000													32	85					1.56738e-10	1.72872e-10	1	1	0
PDE12	201626	broad.mit.edu	37	3	57543283	57543283	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:57543283C>T	ENST00000311180.8	+	1	1280	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	PDE12_ENST00000487257.1_Missense_Mutation_p.L393F	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	393							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TAAGTTCAGCCTTCTTAGCCA	0.532000													24	32					0	0	1	0	0
PTGES2	80142	broad.mit.edu	37	9	130886072	130886072	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr9:130886072C>T	ENST00000338961.6	-	4	1339	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	PTGES2_ENST00000483625.1_5'UTR|PTGES2_ENST00000277462.5_Missense_Mutation_p.G8S	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	199					cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						ACCTCCTTGCCCTGCTCGTTC	0.577000													29	63					0	0	1	0	0
DBNL	28988	broad.mit.edu	37	7	44098509	44098509	+	Silent	SNP	C	C	T	rs148365536	byFrequency	TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr7:44098509C>T	ENST00000494774.1	+	9	786	c.765C>T	c.(763-765)gcC>gcT	p.A255A	DBNL_ENST00000468694.1_Silent_p.A263A|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Silent_p.A160A|DBNL_ENST00000440166.1_Silent_p.A151A|DBNL_ENST00000456905.1_Silent_p.A206A|DBNL_ENST00000452943.1_Silent_p.A230A|DBNL_ENST00000448521.1_Silent_p.A254A	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	254					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AGGAGTCTGCCGTGCACCCGA	0.612000													15	31					0	0	1	0	0
ZNF706	51123	broad.mit.edu	37	8	102213962	102213962	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr8:102213962C>G	ENST00000520347.1	-	2	2964	c.8G>C	c.(7-9)cGt>cCt	p.R3P	ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	3						intracellular	zinc ion binding	p.R3P(2)		large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGCTGTCCACGAGCCATATC	0.398000													7	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179401254	179401254	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:179401254T>C	ENST00000589042.1	-	357	100444	c.100220A>G	c.(100219-100221)gAt>gGt	p.D33407G	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D24534G|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D24467G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30839G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D24342G|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D31766G|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31766							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACACAAGAATCTTTTGTGAC	0.403000													24	61					0	0	1	0	0
DLST	1743	broad.mit.edu	37	14	75361079	75361079	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr14:75361079C>T	ENST00000334220.4	+	10	798	c.737C>T	c.(736-738)gCa>gTa	p.A246V	DLST_ENST00000334212.6_Missense_Mutation_p.A160V|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	246					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		AATACATGTGCAATGCTGACA	0.468000													49	50					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179545821	179545821	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr5:179545821G>T	ENST00000393371.2	-	8	1249	c.953C>A	c.(952-954)gCc>gAc	p.A318D	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.A318D|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.A167D			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	318	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCACTTTGGCCCAGGTCTT	0.627000													32	77					3.67414e-24	4.37398e-24	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46810308	46810308	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr11:46810308C>T	ENST00000529230.1	-	16	1937	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N	CKAP5_ENST00000312055.5_Missense_Mutation_p.D631N|CKAP5_ENST00000415402.1_Missense_Mutation_p.D631N|CKAP5_ENST00000354558.3_Missense_Mutation_p.D631N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	631					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCAGTTCGGTCCATTAGCTCA	0.368000													20	38					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079789	70079789	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr4:70079789G>T	ENST00000446444.1	-	1	660	c.652C>A	c.(652-654)Ctt>Att	p.L218I	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	218					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCAAAATAAAGCACATAGATC	0.338000													17	63					2.35188e-11	2.67259e-11	1	1	0
ALS2CL	259173	broad.mit.edu	37	3	46725326	46725326	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:46725326G>C	ENST00000318962.4	-	9	941	c.858C>G	c.(856-858)caC>caG	p.H286Q	ALS2CL_ENST00000415953.1_Missense_Mutation_p.H286Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	286					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCGTGAGGAGGTGAAACGTGC	0.617000													46	39					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426860	6426860	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr7:6426860G>T	ENST00000348035.4	+	2	266	c.53G>T	c.(52-54)tGc>tTc	p.C18F	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.C18F	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	18					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GGTAAAACTTGCCTACTGATC	0.338000													26	54					1.55811e-20	1.79782e-20	1	1	0
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508																											TGTCACGAATCTTGACAAATT	0.418000													4	53					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1471026	1471026	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chrX:1471026C>T	ENST00000331035.4	+	5	681	c.332C>T	c.(331-333)aCc>aTc	p.T111I	IL3RA_ENST00000381469.2_Missense_Mutation_p.T33I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	111						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GAGAATCTGACCTGCTGGATT	0.617000													18	30					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77921098	77921098	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr11:77921098G>A	ENST00000529308.1	+	10	2458	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	USP35_ENST00000526425.1_Missense_Mutation_p.E464K|USP35_ENST00000441408.2_Missense_Mutation_p.E319K|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.E301K	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	733					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ggaaaaggaagaagaCAGCCT	0.607000													13	35					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1374583	1374583	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr17:1374583G>A	ENST00000359786.5	-	20	2393	c.2069C>T	c.(2068-2070)cCg>cTg	p.P690L	MYO1C_ENST00000575158.1_Missense_Mutation_p.P655L|MYO1C_ENST00000361007.2_Missense_Mutation_p.P655L|MYO1C_ENST00000545534.2_Missense_Mutation_p.P666L|MYO1C_ENST00000438665.2_Missense_Mutation_p.P671L	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	690	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCATCCTGCGGCCGTCCTGC	0.667000													15	37					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9466668	9466668	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr11:9466668G>C	ENST00000379719.3	+	25	3186	c.3044G>C	c.(3043-3045)gGa>gCa	p.G1015A		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	1015					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GAGAAGCATGGAGGATACAAA	0.378000													14	61					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39284101	39284101	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr6:39284101C>T	ENST00000373229.5	-	5	792	c.779G>A	c.(778-780)aGa>aAa	p.R260K	KCNK16_ENST00000437525.2_Missense_Mutation_p.R260K|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000425054.2_Intron|KCNK16_ENST00000373227.4_Intron	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	260						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CTGGCAGCATCTGTGCAGAAG	0.637000													3	7					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25326454	25326454	+	RNA	SNP	A	A	G			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr15:25326454A>G	ENST00000546682.1	+	0	71				SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TGACTTCCATATATACATTCC	0.463000													23	151					0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185655648	185655648	+	Translation_Start_Site	SNP	T	T	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:185655648T>C	ENST00000453386.2	-	1	276	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TRA2B_ENST00000382191.4_5'UTR|TRA2B_ENST00000342294.4_Start_Codon_SNP_p.M1V	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	1					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CTGTCGCTCATGACTCCTGGC	0.632000													25	44					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109697937	109697937	+	Silent	SNP	G	G	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr12:109697937G>T	ENST00000543201.1	+	20	2563	c.2562G>T	c.(2560-2562)ggG>ggT	p.G854G	ACACB_ENST00000377848.3_Intron|ACACB_ENST00000377854.5_Intron|ACACB_ENST00000338432.7_Intron			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	0					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGCACATTGGGGAAGGATCAG	0.493000													49	147					4.18559e-23	4.90499e-23	1	1	0
SH2D3C	10044	broad.mit.edu	37	9	130504111	130504111	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr9:130504111T>C	ENST00000314830.8	-	9	2157	c.2044A>G	c.(2044-2046)Atg>Gtg	p.M682V	SH2D3C_ENST00000429553.1_Missense_Mutation_p.M328V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.M524V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.M614V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.M522V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.M525V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	682	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAGCTGAACATGTTGCCCATA	0.672000													18	35					0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219204600	219204600	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:219204600A>C	ENST00000273077.4	+	3	382	c.331A>C	c.(331-333)Acc>Ccc	p.T111P	AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Missense_Mutation_p.T51P|PNKD_ENST00000258362.3_Missense_Mutation_p.T87P	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	111						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	p.T111P(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACTCGAAAACCCAGCCCCG	0.637000													4	8					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181765843	181765843	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr1:181765843G>A	ENST00000526775.1	+	45	6227	c.6062G>A	c.(6061-6063)cGg>cAg	p.R2021Q	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1647Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2040Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2034Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2064Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1972Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2083Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2083					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCAGGGAGCGGGGACGATCA	0.552000													4	30					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51751183	51751183	+	Missense_Mutation	SNP	C	C	T	rs142431103		TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr12:51751183C>T	ENST00000543196.2	-	9	1757	c.1552G>A	c.(1552-1554)Ggg>Agg	p.G518R	GALNT6_ENST00000356317.3_Missense_Mutation_p.G518R			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	518	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCTTCCCCCCGCGGTTGTTC	0.612000													11	40					0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11600120	11600120	+	Silent	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:11600120G>A	ENST00000273038.3	-	6	1148	c.783C>T	c.(781-783)agC>agT	p.S261S	VGLL4_ENST00000430365.2_Silent_p.S267S|VGLL4_ENST00000404339.1_Silent_p.S266S|VGLL4_ENST00000451674.2_Silent_p.S181S|VGLL4_ENST00000424529.2_Silent_p.S177S|VGLL4_ENST00000413604.1_Silent_p.S202S	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ACTCAGGGCTGCTGGATGCTC	0.657000													32	66					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814582	137814582	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:137814582G>T	ENST00000409968.1	+	3	910	c.732G>T	c.(730-732)aaG>aaT	p.K244N	THSD7B_ENST00000413152.2_Missense_Mutation_p.K213N|THSD7B_ENST00000272643.3_Missense_Mutation_p.K244N|THSD7B_ENST00000543459.1_Missense_Mutation_p.K103N					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTAGCCTTAAGGTTGGACCAT	0.423000													79	100					2.94884e-30	3.56714e-30	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94057678	94057678	+	Silent	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr7:94057678C>T	ENST00000297268.6	+	50	4071	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1200	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTCTACTGGCGAAACCTGTA	0.428000										HNSCC(75;0.22)			30	81					0	0	1	0	0
LOC653712	653712	broad.mit.edu	37	3	128580701	128580701	+	RNA	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:128580701C>T	ENST00000498297.1	-	0	752				RP11-723O4.2_ENST00000480931.1_RNA	NR_034179.1																						GAGGTTGCCTCCTCCCGAGAA	0.577000													13	31					0	0	1	0	0
CLN6	54982	broad.mit.edu	37	15	68504043	68504043	+	Silent	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr15:68504043G>A	ENST00000249806.5	-	4	613	c.456C>T	c.(454-456)ccC>ccT	p.P152P	CLN6_ENST00000564752.1_Silent_p.P152P|CLN6_ENST00000418702.2_Intron|CLN6_ENST00000538696.1_Silent_p.P184P|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Intron|CLN6_ENST00000565471.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	152					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCTTGATGATGGGGTTCTCAC	0.582000													65	135					0	0	1	0	0
ZFAND5	7763	broad.mit.edu	37	9	74975552	74975552	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr9:74975552C>T	ENST00000237937.3	-	2	700	c.143G>A	c.(142-144)aGc>aAc	p.S48N	ZFAND5_ENST00000376962.5_Missense_Mutation_p.S48N|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.S48N|ZFAND5_ENST00000343431.2_Missense_Mutation_p.S48N	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	48							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						ACCCATTGGGCTCATTCTGCC	0.413000													66	134					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175446127	175446127	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:175446127G>C	ENST00000392547.2	-	3	191	c.92C>G	c.(91-93)gCt>gGt	p.A31G	WIPF1_ENST00000272746.5_Missense_Mutation_p.A31G|WIPF1_ENST00000359761.3_Missense_Mutation_p.A31G|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.A31G|WIPF1_ENST00000392546.2_Missense_Mutation_p.A31G|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.A31G|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.A31G	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	31					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ATTTCTCCCAGCCTGCTCTGT	0.418000													52	116					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167645514	167645514	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr5:167645514G>C	ENST00000519204.1	+	22	4373	c.4255G>C	c.(4255-4257)Gat>Cat	p.D1419H	TENM2_ENST00000545108.1_Missense_Mutation_p.D1539H|TENM2_ENST00000403607.2_Missense_Mutation_p.D1364H|TENM2_ENST00000518659.1_Missense_Mutation_p.D1540H|TENM2_ENST00000520394.1_Missense_Mutation_p.D1301H					teneurin transmembrane protein 2																		CTACGCGACTGATGCCATCTT	0.498000													79	163					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40376881	40376881	+	Silent	SNP	C	C	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr17:40376881C>A	ENST00000293328.3	-	4	459	c.291G>T	c.(289-291)acG>acT	p.T97T		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	97					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	AGCGGTCATACGTGTTCTGAA	0.542000													3	37					0.00909568	0.00934488	1	1	0
USP9Y	8287	broad.mit.edu	37	Y	14885611	14885611	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chrY:14885611C>G	ENST00000338981.3	+	17	3028	c.2083C>G	c.(2083-2085)Cgt>Ggt	p.R695G	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	695					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCTTTGTGATCGTGAAGCCTG	0.398000													38	13					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134494851	134494851	+	Silent	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chrX:134494851G>A	ENST00000339249.4	+	5	1547	c.1407G>A	c.(1405-1407)ggG>ggA	p.G469G		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	469					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATTATTGTGGGAAAAGTTTTA	0.388000													86	36					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106779	168106779	+	Silent	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:168106779G>A	ENST00000409195.1	+	9	8966	c.8877G>A	c.(8875-8877)tcG>tcA	p.S2959S	XIRP2_ENST00000295237.9_Silent_p.S2959S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.S2737S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2784					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATTTTGTCGAGAGTGAAAC	0.383000													35	87					0	0	1	0	0
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	RNA	DEL	G	G	-			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303													3	3	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113332168	113332168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr8:113332168delT	ENST00000297405.5	-	46	7452	c.7208delA	c.(7207-7209)atfs	p.N2403fs	CSMD3_ENST00000343508.3_Frame_Shift_Del_p.N2363fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.N2299fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.N2333fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2403	Sushi 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTTCAGCATTGGGCACAGG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			45	68	---	---	---	---					
SPATA31D5P	347127	broad.mit.edu	37	9	84528612	84528614	+	RNA	DEL	TTG	TTG	-			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr9:84528612_84528614delTTG	ENST00000527857.1	+	0	221					NR_026851.1																						AGATTCCCTCTTGTTGTTTCCCA	0.389													3	3	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455													41	141	---	---	---	---					
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518	by1000genomes	TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gca>gAGAca	p.152_152A>ET		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	152										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.520													5	1	---	---	---	---					
TRAF3	7187	broad.mit.edu	37	14	103352585	103352585	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr14:103352585delC	ENST00000560371.1	+	6	847	c.630delC	c.(628-630)gtfs	p.V210fs	TRAF3_ENST00000347662.4_Frame_Shift_Del_p.V210fs|TRAF3_ENST00000392745.2_Frame_Shift_Del_p.V210fs|TRAF3_ENST00000351691.5_Frame_Shift_Del_p.V210fs|TRAF3_ENST00000539721.1_Intron	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	210					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGTGCAGCGTCCAGACTCTCC	0.607													10	9	---	---	---	---					
MAP2K1	5604	broad.mit.edu	37	15	66729094	66729099	+	In_Frame_Del	DEL	TGGAGA	TGGAGA	-			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr15:66729094_66729099delTGGAGA	ENST00000307102.5	+	3	833_838	c.302_307delTGGAGA	c.(301-309)ctc>c	p.LEI101del		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	101	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CTAATTCATCTGGAGATCAAACCCGC	0.447													24	56	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													5	2	---	---	---	---					
