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
NOTCH1	4851	broad.mit.edu	37	9	139412359	139412359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr9:139412359C>T	ENST00000277541.6	-	8	1361	c.1286G>A	c.(1285-1287)tGc>tAc	p.C429Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	429	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTGTTGATGCACTTGCCCGC	0.662000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			38	37					0	0	0.086207	0	0
ANKRD17	26057	broad.mit.edu	37	4	73984419	73984419	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr4:73984419C>G	ENST00000358602.4	-	22	4290	c.4174G>C	c.(4174-4176)Gca>Cca	p.A1392P	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1279P|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1141P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1392					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAAATGCTGCCATAAGAGGA	0.423000													47	19					0	0	0.139131	0	0
JAK1	3716	broad.mit.edu	37	1	65301898	65301898	+	Splice_Site	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:65301898C>T	ENST00000342505.4	-	23	3389	c.3140_splice	c.e23-1	p.W1047_splice		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1047	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CTGGAGCATACCTTGAAAGGA	0.403000			Mis		ALL								15	6					0	0	0.033300	0	0
C20orf26	26074	broad.mit.edu	37	20	20177278	20177278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr20:20177278G>A	ENST00000245957.5	+	16	1731	c.1655G>A	c.(1654-1656)cGc>cAc	p.R552H	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	552										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CACCACCAGCGCGAAGAACAC	0.463000													42	80					0	0	0.104719	0	0
NRCAM	4897	broad.mit.edu	37	7	107831704	107831704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:107831704C>T	ENST00000379028.3	-	19	2397	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I	NRCAM_ENST00000413765.2_Missense_Mutation_p.V624I|NRCAM_ENST00000379024.4_Missense_Mutation_p.V624I|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.V643I|NRCAM_ENST00000425651.2_Missense_Mutation_p.V643I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	643					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACCGTAAACGGGAGCTGGA	0.318000													9	15					0	0	0.093190	0	0
RYR1	6261	broad.mit.edu	37	19	39013683	39013683	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:39013683G>A	ENST00000355481.4	+	68	10406	c.10275G>A	c.(10273-10275)acG>acA	p.T3425T	RYR1_ENST00000360985.3_Silent_p.T3425T|RYR1_ENST00000359596.3_Silent_p.T3425T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3425					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGTGGCTGACGGAGCCGAATC	0.662000													12	8					0	0	0.080935	0	0
CABS1	85438	broad.mit.edu	37	4	71201892	71201892	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr4:71201892A>T	ENST00000273936.4	+	1	1195	c.1136A>T	c.(1135-1137)gAa>gTa	p.E379V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	379						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCACAACTGAAACGGATATC	0.398000													29	12					0	0	0.125774	0	0
SPATA17	128153	broad.mit.edu	37	1	217955658	217955658	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:217955658A>G	ENST00000366933.4	+	8	921	c.866A>G	c.(865-867)gAc>gGc	p.D289G	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	289						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AATGTAAATGACAATATGTGA	0.363000													15	27					0	0	0.033300	0	0
FAM134C	162427	broad.mit.edu	37	17	40734008	40734008	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:40734008C>A	ENST00000309428.5	-	9	1283	c.1224G>T	c.(1222-1224)ctG>ctT	p.L408L	FAM134C_ENST00000585894.1_Silent_p.L311L|FAM134C_ENST00000543197.1_Silent_p.L213L	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	408						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTGACAAGGCCAGCTGAATCA	0.622000													27	47					2.79863e-10	3.18688e-10	0.099896	1	0
KCNJ12	3768	broad.mit.edu	37	17	21319078	21319078	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:21319078A>T	ENST00000583088.1	+	3	1319	c.424A>T	c.(424-426)Acc>Tcc	p.T142S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T142S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGAGACGCAGACCACCATCGG	0.657000										Prostate(3;0.18)			13	63					0	0	0.119110	0	0
ITGB1	3688	broad.mit.edu	37	10	33199209	33199209	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:33199209A>C	ENST00000396033.2	-	14	2241	c.2106T>G	c.(2104-2106)taT>taG	p.Y702*	ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Y702*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	702					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				AATACGTAAAATAGAACCAAC	0.433000													17	8					0	0	0.049695	0	0
THADA	63892	broad.mit.edu	37	2	43819112	43819112	+	Silent	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:43819112T>C	ENST00000403856.1	-	4	297	c.150A>G	c.(148-150)tcA>tcG	p.S50S	THADA_ENST00000415080.2_5'UTR|THADA_ENST00000405975.2_Silent_p.S50S|THADA_ENST00000405006.4_Silent_p.S50S|THADA_ENST00000402360.2_Silent_p.S50S|THADA_ENST00000404790.1_Silent_p.S50S			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	50							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AATGGATTTGTGACACTCCAT	0.313000													5	2					0	0	0.029380	0	0
CREBBP	1387	broad.mit.edu	37	16	3788605	3788605	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:3788605T>C	ENST00000262367.5	-	26	5158	c.4349A>G	c.(4348-4350)tAc>tGc	p.Y1450C	CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1412C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1450	Cys/His-rich.		Y -> H (in RSTS1).		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Y1450C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GATCTCATGGTAAACGGCTGT	0.398000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						20	3					0	0	0.069288	0	0
CXorf22	170063	broad.mit.edu	37	X	35966561	35966561	+	Silent	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:35966561A>G	ENST00000297866.5	+	4	714	c.648A>G	c.(646-648)gaA>gaG	p.E216E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	216										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGTAGATGAAGAGGCAATGT	0.373000													37	9					0	0	0.098360	0	0
CCDC89	220388	broad.mit.edu	37	11	85396180	85396180	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:85396180G>A	ENST00000316398.3	-	1	1140	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	332						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCTACTTTGCGCTGAAGCTCC	0.498000													23	71					0	0	0.076483	0	0
ZNF440	126070	broad.mit.edu	37	19	11943141	11943141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:11943141C>T	ENST00000304060.5	+	4	1314	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGTTCCCTTCGATATCATGA	0.433000													27	22					0	0	0.091800	0	0
MUC17	140453	broad.mit.edu	37	7	100684754	100684754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:100684754G>A	ENST00000306151.4	+	3	10121	c.10057G>A	c.(10057-10059)Gtc>Atc	p.V3353I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3353	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACGCCAGTGGTCAGTTCTGA	0.483000													450	370					0	0	0.139131	0	0
KCNV1	27012	broad.mit.edu	37	8	110980617	110980617	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:110980617G>T	ENST00000524391.1	-	4	2235	c.1203C>A	c.(1201-1203)gaC>gaA	p.D401E	KCNV1_ENST00000297404.1_Missense_Mutation_p.D401E			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	401						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTGTGGTGGTGTCTGGTCTAA	0.478000													43	73					4.67007e-22	5.78618e-22	0.104719	1	0
TMEM147	10430	broad.mit.edu	37	19	36037859	36037859	+	Silent	SNP	A	A	G	rs35486099		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:36037859A>G	ENST00000392204.2	+	4	538	c.210A>G	c.(208-210)ctA>ctG	p.L70L	TMEM147_ENST00000222284.5_Silent_p.L119L|TMEM147_ENST00000392205.1_Silent_p.L119L	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	119						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATTCCCCTATGGGTCGGAG	0.562000													55	57					0	0	0.139131	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000269305.4_Missense_Mutation_p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	8					0	0	0.092188	0	0
AXIN1	8312	broad.mit.edu	37	16	343545	343545	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:343545G>C	ENST00000262320.3	-	8	2500	c.2129C>G	c.(2128-2130)gCg>gGg	p.A710G	AXIN1_ENST00000354866.3_Missense_Mutation_p.A710G	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	710	Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				ACGTCGGCGCGCCTCCTCCAG	0.667000													81	24					0	0	0.139131	0	0
OR8B4	283162	broad.mit.edu	37	11	124294456	124294456	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:124294456A>C	ENST00000356130.3	-	1	333	c.312T>G	c.(310-312)tgT>tgG	p.C104W		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGACAAAGAAACAGAAGAAAA	0.423000													16	51					0	0	0.038395	0	0
NLRP6	171389	broad.mit.edu	37	11	284488	284488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:284488G>A	ENST00000534750.1	+	7	2588	c.2383G>A	c.(2383-2385)Gac>Aac	p.D795N	NLRP6_ENST00000312165.5_Missense_Mutation_p.D796N	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	796						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACAGCTGCCTGACCCCCAGCG	0.697000													18	7					0	0	0.055883	0	0
MEN1	4221	broad.mit.edu	37	11	64577227	64577227	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:64577227T>A	ENST00000337652.1	-	2	858	c.355A>T	c.(355-357)Aag>Tag	p.K119*	MEN1_ENST00000394376.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.K119*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.K119*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.K119*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.K119*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.K119*	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	119			Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.K119del(2)|p.R115fs*60(1)|p.S114fs*60(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GAGACCTTCTTCACCAGCTCA	0.612000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				55	47					0	0	0.139131	0	0
IGSF11	152404	broad.mit.edu	37	3	118623581	118623581	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:118623581A>T	ENST00000354673.2	-	8	1145	c.765T>A	c.(763-765)ttT>ttA	p.F255L	IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000489689.1_Missense_Mutation_p.F232L|IGSF11_ENST00000425327.2_Missense_Mutation_p.F255L|IGSF11_ENST00000393775.2_Missense_Mutation_p.F256L|IGSF11_ENST00000441144.2_Missense_Mutation_p.F231L	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	256					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTGCAATGCAAAAAATGATAA	0.348000													81	137					0	0	0.139131	0	0
ZNF687	57592	broad.mit.edu	37	1	151259689	151259689	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:151259689G>T	ENST00000368879.2	+	2	1020	c.922G>T	c.(922-924)Ggg>Tgg	p.G308W		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCCTCTAGTGGGGCCGAGGC	0.572000													29	42					4.87955e-14	5.65454e-14	0.108266	1	0
ZNF157	7712	broad.mit.edu	37	X	47271931	47271931	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:47271931A>C	ENST00000377073.3	+	4	545	c.459A>C	c.(457-459)aaA>aaC	p.K153N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	153					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TTAGACGTAAAAGAACACCCA	0.383000													21	5					0	0	0.062417	0	0
PNPLA8	50640	broad.mit.edu	37	7	108154727	108154727	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:108154727C>T	ENST00000426128.2	-	3	1192	c.1067G>A	c.(1066-1068)aGg>aAg	p.R356K	PNPLA8_ENST00000388728.5_Missense_Mutation_p.R356K|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R356K|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R356K|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R356K|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R256K	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	356					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AATACTCACCCTTGCGATAAT	0.348000													157	156					0	0	0.139131	0	0
ENTPD4	9583	broad.mit.edu	37	8	23243522	23243522	+	Silent	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:23243522A>T	ENST00000356206.6	-	13	1870	c.1635T>A	c.(1633-1635)ggT>ggA	p.G545G	LOXL2_ENST00000389131.3_Intron			Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	0					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		gCTTTGGacaaccccctgagc	0.463000													39	14					0	0	0.117977	0	0
C17orf75	64149	broad.mit.edu	37	17	30668273	30668273	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:30668273G>A	ENST00000577809.1	-	2	220	c.171C>T	c.(169-171)gaC>gaT	p.D57D	C17orf75_ENST00000225805.4_Silent_p.D57D|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	57					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGGGCTTCCGTCCTCACTGT	0.478000													93	148					0	0	0.139131	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4498321	4498321	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:4498321A>G	ENST00000301284.4	+	12	1485	c.1421A>G	c.(1420-1422)aAg>aGg	p.K474R	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.K474R	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		474					transcription, DNA-dependent	nucleus	DNA binding|protein binding										GTGGAGGAGAAGCTGCAGAAG	0.647000													25	19					0	0	0.108266	0	0
SLC6A5	9152	broad.mit.edu	37	11	20652257	20652257	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:20652257G>A	ENST00000525748.1	+	10	1793	c.1520G>A	c.(1519-1521)tGc>tAc	p.C507Y	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	507					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ATTGTCACCTGCACCAACAGT	0.493000													5	115					0	0	0.021553	0	0
CBLB	868	broad.mit.edu	37	3	105572471	105572471	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:105572471T>C	ENST00000264122.4	-	3	527	c.206A>G	c.(205-207)aAt>aGt	p.N69S	CBLB_ENST00000394027.3_Missense_Mutation_p.N91S|CBLB_ENST00000405772.1_Missense_Mutation_p.N69S|CBLB_ENST00000545639.1_Missense_Mutation_p.N91S|CBLB_ENST00000403724.1_Missense_Mutation_p.N69S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	69	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGGTGGGCTATTTTTCAACTG	0.289000			Mis S		AML								58	6					0	0	0.139131	0	0
OR4D6	219983	broad.mit.edu	37	11	59224764	59224764	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:59224764G>T	ENST00000300127.2	+	1	354	c.331G>T	c.(331-333)Gat>Tat	p.D111Y		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	111			D -> A (in dbSNP:rs17500380).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGGTGGGGCAGATATTTTTTT	0.483000													50	139					3.76525e-18	4.49548e-18	0.139131	1	0
TPTE	7179	broad.mit.edu	37	21	10942773	10942773	+	Splice_Site	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:10942773A>G	ENST00000298232.7	-	12	981	c.612_splice	c.e12-1	p.V205_splice	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.V185_splice|TPTE_ENST00000361285.4_Splice_Site_p.V223_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	223					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTTTCTGAAACCTGACAGTT	0.348000													51	289					0	0	0.139131	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291170	5291170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:5291170G>A	ENST00000357006.4	-	4	1375	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	ZBTB14_ENST00000400143.3_Missense_Mutation_p.P346L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		CTTTAAGTCTGGGGCACGGAT	0.453000													48	76					0	0	0.139131	0	0
OR2L2	26246	broad.mit.edu	37	1	248202502	248202502	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:248202502A>C	ENST00000366479.2	+	1	1029	c.933A>C	c.(931-933)aaA>aaC	p.K311N	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTCAGTGAAAATGTAGACAT	0.443000													7	69					0	0	0.038147	0	0
STXBP4	252983	broad.mit.edu	37	17	53120624	53120624	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:53120624G>A	ENST00000376352.2	+	11	1090	c.883G>A	c.(883-885)Gat>Aat	p.D295N	STXBP4_ENST00000405898.1_Missense_Mutation_p.D295N|STXBP4_ENST00000434978.2_Missense_Mutation_p.D295N|STXBP4_ENST00000299341.4_Missense_Mutation_p.D220N|STXBP4_ENST00000398391.2_Missense_Mutation_p.D220N	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	295						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTCAGAAGCAGATGAAATGGA	0.313000													5	9					0	0	0.014758	0	0
TAF1C	9013	broad.mit.edu	37	16	84214963	84214963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:84214963G>A	ENST00000567759.1	-	10	1395	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	TAF1C_ENST00000378541.4_Missense_Mutation_p.R405C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R312C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R73C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R312C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R379C	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	405					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						ACTCCGGTGCGGTCACCCACG	0.667000													15	4					0	0	0.132662	0	0
HSPA6	3310	broad.mit.edu	37	1	161495385	161495385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:161495385C>T	ENST00000309758.4	+	1	1350	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	313					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGACCTCTTCCGCAGCACCCT	0.632000													5	30					0	0	0.021553	0	0
PALB2	79728	broad.mit.edu	37	16	23646401	23646401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:23646401G>A	ENST00000261584.4	-	4	1618	c.1466C>T	c.(1465-1467)tCt>tTt	p.S489F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	489					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CCCAGCGGGAGAGCTGACTTT	0.468000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					21	163					0	0	0.062417	0	0
APOH	350	broad.mit.edu	37	17	64224252	64224252	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:64224252G>C	ENST00000205948.6	-	2	164	c.127C>G	c.(127-129)Cca>Gca	p.P43A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	43	Sushi 1.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCTTCTCCTGGCTCATAGAAT	0.483000													76	97					0	0	0.139131	0	0
ESPL1	9700	broad.mit.edu	37	12	53662897	53662897	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:53662897C>A	ENST00000257934.4	+	3	262	c.171C>A	c.(169-171)tgC>tgA	p.C57*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.C57*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	57					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGAGGGCTTGCAACCAGCAGC	0.572000													40	31					1.96642e-18	2.37659e-18	0.092188	1	0
SRPK2	6733	broad.mit.edu	37	7	104787081	104787081	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:104787081G>T	ENST00000357311.3	-	7	784	c.613C>A	c.(613-615)Cac>Aac	p.H205N	SRPK2_ENST00000393651.3_Missense_Mutation_p.H216N|SRPK2_ENST00000489828.1_Missense_Mutation_p.H205N	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	205	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CACTTACTGTGTAAGTAATCT	0.338000													10	37					3.03607e-14	3.53909e-14	0.093190	1	0
DRC1	92749	broad.mit.edu	37	2	26654844	26654844	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:26654844G>T	ENST00000288710.2	+	7	932	c.858G>T	c.(856-858)atG>atT	p.M286I	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		AATACAACATGATCAAGATCA	0.498000													34	43					2.85442e-18	3.42878e-18	0.045705	1	0
MYO1C	4641	broad.mit.edu	37	17	1386944	1386944	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:1386944G>A	ENST00000359786.5	-	3	631	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	MYO1C_ENST00000438665.2_Missense_Mutation_p.R84C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R79C|MYO1C_ENST00000575158.1_Missense_Mutation_p.R68C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R68C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	103	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)		CCACGGTAACGCTCCATATGC	0.627000													6	13					0	0	0.029380	0	0
TRANK1	9881	broad.mit.edu	37	3	36873305	36873305	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:36873305C>A	ENST00000301807.6	-	21	7884	c.5987G>T	c.(5986-5988)cGg>cTg	p.R1996L	TRANK1_ENST00000429976.2_Missense_Mutation_p.R2546L|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1996L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2546					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCAATCTCCCGGAAGTGGCG	0.582000													38	10					1.36161e-19	1.66607e-19	0.069456	1	0
CLVS1	157807	broad.mit.edu	37	8	62289235	62289235	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:62289235A>G	ENST00000519846.1	+	4	999	c.527A>G	c.(526-528)cAg>cGg	p.Q176R	CLVS1_ENST00000325897.4_Missense_Mutation_p.Q176R|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	176	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCGGAGCTTCAGATAAATGGC	0.448000													3	82					0	0	0.115264	0	0
OR5H15	403274	broad.mit.edu	37	3	97888085	97888085	+	Missense_Mutation	SNP	C	C	A	rs62266800		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:97888085C>A	ENST00000356526.2	+	1	542	c.542C>A	c.(541-543)aCt>aAt	p.T181N		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TACTGTGACACTATCCCATTG	0.313000													24	4					1.04121e-07	1.15235e-07	0.108266	1	0
AXIN1	8312	broad.mit.edu	37	16	343549	343549	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:343549C>T	ENST00000262320.3	-	8	2496	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	AXIN1_ENST00000354866.3_Missense_Mutation_p.E709K	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	709	Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGGCGCGCCTCCTCCAGCTGG	0.677000													86	25					0	0	0.139131	0	0
KRT32	3882	broad.mit.edu	37	17	39616390	39616390	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:39616390C>A	ENST00000225899.3	-	7	1422	c.1319G>T	c.(1318-1320)tGc>tTc	p.C440F		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	440	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCAGGGTGAGCAAGGCATGCC	0.647000													15	22					0.000422831	0.000450258	0.146539	1	0
S1PR4	8698	broad.mit.edu	37	19	3179935	3179935	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:3179935G>A	ENST00000246115.3	+	1	1200	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	382					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCCAGCGTGCGGAGCATCTGA	0.652000													50	55					0	0	0.139131	0	0
RINL	126432	broad.mit.edu	37	19	39361466	39361466	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:39361466C>T	ENST00000340740.3	-	8	813	c.426G>A	c.(424-426)gaG>gaA	p.E142E	CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000602238.1_5'UTR|RINL_ENST00000598904.1_Silent_p.E142E|RINL_ENST00000591812.1_Silent_p.E256E	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	142							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TGAGCACGTCCTCAGGGCCTT	0.617000													29	82					0	0	0.125774	0	0
GRN	2896	broad.mit.edu	37	17	42429495	42429495	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:42429495C>T	ENST00000053867.3	+	11	1354	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V	GRN_ENST00000589265.1_Missense_Mutation_p.A274V	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	431					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGATGCCTGCCCGCCGGGCT	0.667000													55	57					0	0	0.139131	0	0
UBE2M	9040	broad.mit.edu	37	19	59068277	59068277	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:59068277C>T	ENST00000253023.3	-	3	803	c.225G>A	c.(223-225)aaG>aaA	p.K75K		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	75					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGAACACAAACTTCCCACTCT	0.567000													25	10					0	0	0.099896	0	0
DGKG	1608	broad.mit.edu	37	3	185986617	185986617	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:185986617C>T	ENST00000265022.3	-	12	1628	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Silent_p.A363A|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	363					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGCAGTGCCGCGCGGTGACAC	0.612000													21	30					0	0	0.062417	0	0
TTN	7273	broad.mit.edu	37	2	179581995	179581995	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:179581995C>A	ENST00000589042.1	-	88	25690	c.25466G>T	c.(25465-25467)tGg>tTg	p.W8489L	TTN_ENST00000342992.6_Missense_Mutation_p.W7245L|TTN_ENST00000591111.1_Missense_Mutation_p.W8172L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8172	Ig-like 67.						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)			ATCTTTGGCCCAAGTGATTTT	0.428000													34	37					4.3181e-19	5.25102e-19	0.054565	1	0
KIF13A	63971	broad.mit.edu	37	6	17764996	17764996	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr6:17764996C>A	ENST00000378814.5	-	37	4618	c.4619G>T	c.(4618-4620)cGt>cTt	p.R1540L	KIF13A_ENST00000378843.2_Missense_Mutation_p.R1540L|KIF13A_ENST00000259711.6_Missense_Mutation_p.R1588L|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1553L|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1553L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1588					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTAGGGCTACGGGACACTTC	0.502000													11	6					3.86212e-05	4.15758e-05	0.069234	1	0
NCAM2	4685	broad.mit.edu	37	21	22881352	22881352	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:22881352T>A	ENST00000400546.1	+	16	2507	c.2258T>A	c.(2257-2259)cTc>cAc	p.L753H	NCAM2_ENST00000284894.7_Missense_Mutation_p.L611H	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	753					neuron cell-cell adhesion	integral to membrane|plasma membrane				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)		AGTAAAGAACTCGAAGAAGGA	0.463000													30	31					0	0	0.125774	0	0
ZNF687	57592	broad.mit.edu	37	1	151259690	151259690	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:151259690G>T	ENST00000368879.2	+	2	1021	c.923G>T	c.(922-924)gGg>gTg	p.G308V		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCTCTAGTGGGGCCGAGGCT	0.567000													31	43					7.26314e-15	8.5169e-15	0.125774	1	0
GGNBP2	79893	broad.mit.edu	37	17	34912940	34912940	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:34912940G>C	ENST00000304718.4	+	4	508	c.192G>C	c.(190-192)aaG>aaC	p.K64N		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	64					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTATGCTTAAGCAACAGGATC	0.443000													55	75					0	0	0.139131	0	0
CACNA1G	8913	broad.mit.edu	37	17	48699024	48699024	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:48699024C>A	ENST00000354983.4	+	33	6199	c.5827C>A	c.(5827-5829)Cct>Act	p.P1943T	CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1966T|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1977T|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1906T|CACNA1G_ENST00000442258.2_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1977					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTCTAGATCCCTCTAGCTGA	0.562000													13	28					9.31168e-06	1.00791e-05	0.105934	1	0
ADCY10	55811	broad.mit.edu	37	1	167865864	167865864	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:167865864G>A	ENST00000367848.1	-	7	929	c.432C>T	c.(430-432)ttC>ttT	p.F144F	ADCY10_ENST00000545172.1_Silent_p.F83F|ADCY10_ENST00000367851.4_Silent_p.F236F			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	236	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AATAATGCATGAAGGTCGTAC	0.368000													57	281					0	0	0.139131	0	0
ARID3A	1820	broad.mit.edu	37	19	971943	971943	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:971943G>C	ENST00000263620.3	+	9	1987	c.1660G>C	c.(1660-1662)Ggc>Cgc	p.G554R		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	554	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		Aggcggcggcggcggcggcag	0.667000													16	47					0	0	0.146539	0	0
DOCK6	57572	broad.mit.edu	37	19	11323947	11323947	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:11323947G>A	ENST00000294618.7	-	35	4407	c.4396C>T	c.(4396-4398)Ctc>Ttc	p.L1466F	DOCK6_ENST00000319867.7_Missense_Mutation_p.L805F|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1466					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TGTCGTAGGAGCCTCAGGCAC	0.652000													12	30					0	0	0.080935	0	0
XIST	7503	broad.mit.edu	37	X	73071310	73071310	+	RNA	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:73071310C>T	ENST00000429829.1	-	0	1278					NR_001564.2																						TTGAACACTGCGACAGAACTG	0.527000													113	24					0	0	0.139131	0	0
WNT11	7481	broad.mit.edu	37	11	75907652	75907652	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:75907652A>G	ENST00000322563.3	-	2	318	c.194T>C	c.(193-195)cTc>cCc	p.L65P		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	65					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CGTGTGCATGAGCTCCAGGTT	0.647000													40	26					0	0	0.092188	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Silent_p.L124L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			43	5					0	0	0.104719	0	0
TNRC18	84629	broad.mit.edu	37	7	5391493	5391493	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:5391493C>T	ENST00000399537.4	-	17	5775	c.5427G>A	c.(5425-5427)gcG>gcA	p.A1809A	TNRC18_ENST00000430969.1_Silent_p.A1809A			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1809							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGGAGGAACGCGCCTCGGCCT	0.592000													15	12					0	0	0.146539	0	0
PRB3	5544	broad.mit.edu	37	12	11421068	11421068	+	RNA	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:11421068G>A	ENST00000381842.3	-	0	152				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGTGGGCGTCGTCCTTCTGGC	0.547000													57	92					0	0	0.139131	0	0
KSR1	8844	broad.mit.edu	37	17	25783823	25783823	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:25783823A>T	ENST00000319524.6	+	1	154	c.154A>T	c.(154-156)Atc>Ttc	p.I52F	KSR1_ENST00000509603.2_Missense_Mutation_p.I52F			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	50					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGACATCTCCATCGGCAGCCT	0.716000													29	32					0	0	0.059317	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													4	21					0	0	0.014758	0	0
TMPO	7112	broad.mit.edu	37	12	98931317	98931317	+	Silent	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:98931317A>T	ENST00000556029.1	+	4	986	c.630A>T	c.(628-630)gtA>gtT	p.V210V	TMPO_ENST00000393053.2_Silent_p.V210V|TMPO_ENST00000343315.5_Silent_p.V210V|TMPO_ENST00000261210.5_Silent_p.V210V	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	210	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGACTCCAGTAACACTCAAGC	0.388000													7	14					0	0	0.029380	0	0
KIAA1958	158405	broad.mit.edu	37	9	115407987	115407987	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr9:115407987A>G	ENST00000337530.6	+	3	1525	c.1229A>G	c.(1228-1230)gAt>gGt	p.D410G	KIAA1958_ENST00000536272.1_Missense_Mutation_p.D438G	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	410										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GACTTGAATGATCTGTGTACC	0.383000													16	40					0	0	0.038395	0	0
BCAP29	55973	broad.mit.edu	37	7	107234422	107234422	+	Silent	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:107234422A>G	ENST00000379119.2	+	3	230	c.216A>G	c.(214-216)aaA>aaG	p.K72K	BCAP29_ENST00000445771.2_Silent_p.K72K|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379117.2_Silent_p.K72K|BCAP29_ENST00000005259.4_Silent_p.K72K|BCAP29_ENST00000465919.1_5'UTR	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	72					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AAGTAAGGAAATATTCCTCAG	0.353000													49	33					0	0	0.139131	0	0
VWA3A	146177	broad.mit.edu	37	16	22134933	22134933	+	Splice_Site	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:22134933G>T	ENST00000389397.4	+	16	1533		c.e16-1		VWA3A_ENST00000389398.5_Splice_Site			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A							extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CACTTCTGCAGCAACAGCTCA	0.572000													38	85					2.35968e-33	3.09905e-33	0.080422	1	0
LRP1B	53353	broad.mit.edu	37	2	141359067	141359067	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:141359067A>T	ENST00000389484.3	-	42	7912	c.6941T>A	c.(6940-6942)aTg>aAg	p.M2314K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2314					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCTTCTGACATGGTGATGAC	0.428000										TSP Lung(27;0.18)			13	36					0	0	0.119110	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055160	9055160	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:9055160C>A	ENST00000383836.3	-	17	2406	c.1979G>T	c.(1978-1980)gGg>gTg	p.G660V	SRGAP3_ENST00000360413.3_Missense_Mutation_p.G636V	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	660	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GAGGGTAGGCCCGAAGCAGAT	0.527000			T	RAF1	pilocytic astrocytoma								8	36					5.18039e-06	5.66965e-06	0.038147	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	134					0	0	0.115264	0	0
PRRX1	5396	broad.mit.edu	37	1	170695536	170695536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:170695536C>G	ENST00000239461.6	+	3	906	c.593C>G	c.(592-594)cCg>cGg	p.P198R	PRRX1_ENST00000367760.3_Missense_Mutation_p.P198R|PRRX1_ENST00000497230.2_Missense_Mutation_p.P198R|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAGCGTCTCCGTACAGGTGA	0.562000													25	37					0	0	0.116897	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864434	22864434	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:22864434C>T	ENST00000251822.6	+	5	1213	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.R233W|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.R248W	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	226					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAATGTGCAGCGGCCTCTGCT	0.662000													52	19					0	0	0.139131	0	0
ANKK1	255239	broad.mit.edu	37	11	113266828	113266828	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:113266828G>C	ENST00000303941.3	+	5	816	c.722G>C	c.(721-723)gGc>gCc	p.G241A		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	241	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GTGGCGGCAGGCATGCGGCCC	0.597000													22	52					0	0	0.083992	0	0
USP16	10600	broad.mit.edu	37	21	30419482	30419482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:30419482C>A	ENST00000334352.4	+	15	2082	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	USP16_ENST00000535828.1_Missense_Mutation_p.F246L|USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	617					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAACTGCTTTCTGTACTCTTG	0.363000													62	13					9.4991e-31	1.23929e-30	0.139131	1	0
TNRC6B	23112	broad.mit.edu	37	22	40658079	40658079	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr22:40658079G>T	ENST00000454349.2	+	4	570	c.359G>T	c.(358-360)gGt>gTt	p.G120V	TNRC6B_ENST00000301923.9_Missense_Mutation_p.G156V|TNRC6B_ENST00000402203.1_Missense_Mutation_p.G156V|TNRC6B_ENST00000335727.8_Missense_Mutation_p.G120V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	120					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CTCCTTGGGGGTGGGGCAGGG	0.632000													8	1					0.00448238	0.00469696	0.047766	1	0
GIMAP6	474344	broad.mit.edu	37	7	150325295	150325295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:150325295G>A	ENST00000328902.5	-	3	607	c.391C>T	c.(391-393)Caa>Taa	p.Q131*	GIMAP6_ENST00000493969.1_Missense_Mutation_p.T56I	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	131							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCCCAGTTGTGTCACCAGG	0.632000													17	89					0	0	0.033300	0	0
COL1A2	1278	broad.mit.edu	37	7	94038122	94038122	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:94038122C>A	ENST00000297268.6	+	16	1250	c.779C>A	c.(778-780)gCc>gAc	p.A260D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	260					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)	TTCCCAGGTGCCCCTGGCCCC	0.433000										HNSCC(75;0.22)			7	63					1.26484e-09	1.42385e-09	0.038147	1	0
USP32P2	220594	broad.mit.edu	37	17	18420772	18420772	+	RNA	SNP	G	G	A	rs28569074	by1000genomes	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:18420772G>A	ENST00000425211.1	-	0	1705																											AATTGAAATCGCTTAAGGTGA	0.343000													5	65					0	0	0.069234	0	0
OR51A4	401666	broad.mit.edu	37	11	4967665	4967665	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:4967665G>C	ENST00000380373.2	-	1	691	c.666C>G	c.(664-666)atC>atG	p.I222M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTCTTGAGGATCAGGGTGT	0.433000													23	13					0	0	0.076483	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140734960	140734960	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:140734960C>T	ENST00000571252.1	+	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTCCGCATCGTCTC	0.647000													51	23					0	0	0.139131	0	0
MIR519A2	574500	broad.mit.edu	37	19	54265626	54265626	+	RNA	SNP	C	C	T	rs142071806	by1000genomes	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:54265626C>T	ENST00000384990.1	+	0	29					NR_030222.1																						TACAGGGAAGCGCTTTCTGTT	0.408000													65	60					0	0	0.139131	0	0
FOXR2	139628	broad.mit.edu	37	X	55650824	55650824	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:55650824C>T	ENST00000339140.3	+	1	992	c.680C>T	c.(679-681)cCc>cTc	p.P227L		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	227					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CAGCATTTCCCCTTTTTCTGG	0.498000													52	7					0	0	0.139131	0	0
SLC6A4	6532	broad.mit.edu	37	17	28534763	28534763	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:28534763G>C	ENST00000401766.2	-	12	2149	c.1637C>G	c.(1636-1638)cCt>cGt	p.P546R	SLC6A4_ENST00000261707.3_Missense_Mutation_p.P546R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	546					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GAGAAACAGAGGGCTGATGGC	0.562000													13	32					0	0	0.146539	0	0
SH3GL1	6455	broad.mit.edu	37	19	4365608	4365608	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:4365608G>A	ENST00000269886.3	-	4	380	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	SH3GL1_ENST00000417295.2_Intron|SH3GL1_ENST00000598564.1_Silent_p.L68L	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	68	BAR.|Required for dimerization upon membrane association (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AGCATGGTCAGCTTAGCCCGC	0.662000			T	MLL	AL								40	47					0	0	0.111260	0	0
RBP3	5949	broad.mit.edu	37	10	48388214	48388214	+	Silent	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:48388214G>T	ENST00000224600.4	-	1	2777	c.2664C>A	c.(2662-2664)ccC>ccA	p.P888P		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	888	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ATGCATATAAGGGGCTGCTGC	0.647000													18	13					6.94344e-10	7.86125e-10	0.038395	1	0
MUC17	140453	broad.mit.edu	37	7	100676474	100676474	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:100676474A>G	ENST00000306151.4	+	3	1841	c.1777A>G	c.(1777-1779)Act>Gct	p.T593A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	593	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCAACAACTCCTGCTGA	0.478000													8	665					0	0	0.038147	0	0
PCF11	51585	broad.mit.edu	37	11	82881002	82881002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:82881002C>A	ENST00000298281.4	+	8	4077	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1209					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TATACCTGCTCCAATGACAGT	0.348000													12	14					3.07112e-06	3.37994e-06	0.080935	1	0
ANK3	288	broad.mit.edu	37	10	61819590	61819590	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:61819590G>T	ENST00000373827.2	-	40	5083	c.4913C>A	c.(4912-4914)tCc>tAc	p.S1638Y	ANK3_ENST00000280772.1_Intron|ANK3_ENST00000503366.1_Missense_Mutation_p.S1645Y|ANK3_ENST00000355288.2_Missense_Mutation_p.S778Y|RP11-388P9.2_ENST00000414383.1_RNA	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3705	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCATCTGCGGAATGCTCTAT	0.468000													50	19					6.87076e-12	7.91544e-12	0.139131	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84582032	84582032	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:84582032C>A	ENST00000286744.5	+	16	2113	c.1889C>A	c.(1888-1890)gCc>gAc	p.A630D	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A630D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	630						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGAGCCCGGCCTCCCGAGAG	0.612000													58	14					6.60958e-23	8.29355e-23	0.139131	1	0
CD300E	342510	broad.mit.edu	37	17	72613588	72613588	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:72613588C>T	ENST00000392619.1	-	2	173	c.138G>A	c.(136-138)aaG>aaA	p.K46K	CD300E_ENST00000328630.3_Silent_p.K19K|CD300E_ENST00000426295.2_Silent_p.K60K	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	19	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCCGGGGCCCTTCAGAGACA	0.552000													25	18					0	0	0.091800	0	0
KIF21B	23046	broad.mit.edu	37	1	200967679	200967679	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:200967679G>A	ENST00000332129.2	-	14	2226	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	KIF21B_ENST00000422435.2_Missense_Mutation_p.A637V|KIF21B_ENST00000461742.2_Missense_Mutation_p.A637V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A637V	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	637					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTCAGGTCGGCCAGGTCCGC	0.587000													31	44					0	0	0.059317	0	0
HYAL4	23553	broad.mit.edu	37	7	123508362	123508362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:123508362G>A	ENST00000223026.4	+	3	673	c.35G>A	c.(34-36)tGt>tAt	p.C12Y	HYAL4_ENST00000476325.1_Missense_Mutation_p.C12Y	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	12					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTAAAGCTTTGTGTTGTTCAA	0.348000													42	75					0	0	0.111260	0	0
NELL2	4753	broad.mit.edu	37	12	44917184	44917184	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:44917184A>T	ENST00000429094.2	-	17	2392	c.1888T>A	c.(1888-1890)Tgt>Agt	p.C630S	NELL2_ENST00000452445.2_Missense_Mutation_p.C630S|NELL2_ENST00000437801.2_Missense_Mutation_p.C680S|NELL2_ENST00000551601.1_Missense_Mutation_p.C582S|NELL2_ENST00000395487.2_Missense_Mutation_p.C629S|NELL2_ENST00000549027.1_Missense_Mutation_p.C629S|NELL2_ENST00000333837.4_Missense_Mutation_p.C653S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	630	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCATGAGGACATCGACAATCA	0.448000													30	92					0	0	0.116897	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													3	119					0	0	0.115264	0	0
DCAF4	26094	broad.mit.edu	37	14	73404779	73404779	+	Splice_Site	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:73404779G>A	ENST00000553457.1	+	1	82		c.e1+1		DCAF4_ENST00000510612.1_Splice_Site|DCAF4_ENST00000394234.2_Intron|DCAF4_ENST00000353777.3_Splice_Site|DCAF4_ENST00000509153.1_Splice_Site|DCAF4_ENST00000358377.2_Splice_Site|DCAF4_ENST00000555042.1_Splice_Site			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4							CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CTGAAGACAGGCAAGTGTGCC	0.527000													64	33					0	0	0.139131	0	0
ADCY1	107	broad.mit.edu	37	7	45614734	45614734	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:45614734G>T	ENST00000297323.7	+	1	614	c.592G>T	c.(592-594)Gtc>Ttc	p.V198F	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	198					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCACTTGCTGGTCACAGCCAC	0.642000													17	27					2.5808e-16	3.04441e-16	0.038395	1	0
LIG4	3981	broad.mit.edu	37	13	108861972	108861972	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr13:108861972T>A	ENST00000356922.4	-	2	1917	c.1645A>T	c.(1645-1647)Att>Ttt	p.I549F	LIG4_ENST00000405925.1_Missense_Mutation_p.I549F|LIG4_ENST00000442234.1_Missense_Mutation_p.I549F	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	549					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAAGGTTCAATGTATACTTCT	0.403000								Non-homologous end-joining					34	13					0	0	0.059317	0	0
FAM102B	284611	broad.mit.edu	37	1	109170788	109170788	+	Splice_Site	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:109170788G>C	ENST00000370035.3	+	7	896		c.e7-1		FAM102B_ENST00000405454.1_Splice_Site	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B											autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		ACATATTACAGATCTTTCAGC	0.378000													25	10					0	0	0.091800	0	0
BAGE2	85319	broad.mit.edu	37	21	11098870	11098870	+	RNA	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:11098870C>A	ENST00000470054.1	-	0	55									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaactcccccttctcctggt	0.622000													11	14					5.50884e-06	5.99581e-06	0.093190	1	0
CDK13	8621	broad.mit.edu	37	7	40037230	40037230	+	Missense_Mutation	SNP	C	C	G	rs34775357	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:40037230C>G	ENST00000181839.4	+	3	2614	c.2009C>G	c.(2008-2010)aCa>aGa	p.T670R	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.T670R	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	670			T -> R (in dbSNP:rs34775357).		alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.T670R(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GAAAAGAAAACAGCAACACAG	0.433000													3	123					0	0	0.115264	0	0
OSBPL3	26031	broad.mit.edu	37	7	24874174	24874174	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:24874174G>A	ENST00000313367.2	-	15	2128	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L	OSBPL3_ENST00000431825.2_Silent_p.L492L|OSBPL3_ENST00000352860.1_Silent_p.L528L|OSBPL3_ENST00000396431.1_Silent_p.L528L|OSBPL3_ENST00000409069.1_Silent_p.L492L|OSBPL3_ENST00000396429.1_Silent_p.L523L|OSBPL3_ENST00000353930.1_Silent_p.L523L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	559					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCTCCTCGCAGAGCCTCTGCA	0.617000													44	68					0	0	0.139131	0	0
HDAC9	9734	broad.mit.edu	37	7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:18625006G>A	ENST00000406451.3	+	3	275	c.125G>A	c.(124-126)cGt>cAt	p.R42H	HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000476135.1_3'UTR	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493000													48	87					0	0	0.139131	0	0
SNHG14	104472715	broad.mit.edu	37	15	25444646	25444646	+	RNA	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:25444646A>T	ENST00000424208.1	+	0	1811				SNORD115-16_ENST00000363887.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ATGACTTAAAAATCATGCTCA	0.478000													7	348					0	0	0.047766	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217266	26217266	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr6:26217266G>A	ENST00000303910.2	+	1	102	c.64G>A	c.(64-66)Gcc>Acc	p.A22T		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	22					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TTCTTCCAGGGCCGGTCTTCA	0.577000													22	12					0	0	0.055883	0	0
THEM5	284486	broad.mit.edu	37	1	151820766	151820766	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:151820766A>C	ENST00000368817.5	-	4	598	c.467T>G	c.(466-468)tTt>tGt	p.F156C	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	156							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGTGAGCAAACCTGGGGGT	0.602000													13	26					0	0	0.083992	0	0
PADI4	23569	broad.mit.edu	37	1	17668883	17668883	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:17668883G>A	ENST00000375448.4	+	8	947	c.921G>A	c.(919-921)gaG>gaA	p.E307E	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	307					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCCCGCAGGAGGTGTACGCGT	0.632000													15	7					0	0	0.146539	0	0
TTC39C	125488	broad.mit.edu	37	18	21703803	21703803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:21703803C>T	ENST00000540918.2	+	4	521	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	TTC39C_ENST00000317571.3_Nonsense_Mutation_p.Q398*|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.Q337*			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	398							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TACAGTTTGTCAGGGAGCCAC	0.368000													12	22					0	0	0.105934	0	0
OR4C6	219432	broad.mit.edu	37	11	55432771	55432771	+	Silent	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:55432771T>C	ENST00000314259.3	+	1	158	c.129T>C	c.(127-129)atT>atC	p.I43I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATCTACTTATTGTGGTAACTA	0.408000													82	66					0	0	0.139131	0	0
TOP3B	8940	broad.mit.edu	37	22	22318364	22318364	+	Missense_Mutation	SNP	G	G	A	rs143308485	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr22:22318364G>A	ENST00000398793.2	-	11	1569	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	TOP3B_ENST00000413067.2_Missense_Mutation_p.R108W|TOP3B_ENST00000357179.5_Missense_Mutation_p.R379W	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	379					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TGGCCTTTCCGCGGGCGGTTG	0.607000													49	10					0	0	0.139131	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857639	101857639	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:101857639A>T	ENST00000604957.1	+	1	3192	c.570A>T	c.(568-570)gaA>gaT	p.E190D	ARMCX5_ENST00000536530.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000541409.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000537008.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000372742.1_Missense_Mutation_p.E190D|RP4-769N13.6_ENST00000476910.1_RNA|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.E190D	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	190							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCCTGAAGAAGAGACCTCTC	0.448000													74	12					0	0	0.139131	0	0
ASNS	440	broad.mit.edu	37	7	97488686	97488686	+	Missense_Mutation	SNP	G	G	A	rs138299423		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:97488686G>A	ENST00000175506.4	-	6	1040	c.512C>T	c.(511-513)gCg>gTg	p.A171V	ASNS_ENST00000437628.1_Missense_Mutation_p.A88V|ASNS_ENST00000394309.3_Missense_Mutation_p.A171V|ASNS_ENST00000455086.1_Missense_Mutation_p.A88V|ASNS_ENST00000394308.3_Missense_Mutation_p.A171V|ASNS_ENST00000444334.1_Missense_Mutation_p.A150V|ASNS_ENST00000422745.1_Missense_Mutation_p.A150V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	171	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAAGGGAGTCGCGGAGTGCTT	0.368000													39	63					0	0	0.080422	0	0
VPS13D	55187	broad.mit.edu	37	1	12304644	12304644	+	Silent	SNP	C	C	A	rs34489138	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:12304644C>A	ENST00000358136.3	+	5	547	c.417C>A	c.(415-417)tcC>tcA	p.S139S	VPS13D_ENST00000356315.4_Silent_p.S139S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	139					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTACCGCCTCCGTAGTTACAA	0.413000													35	19					2.32173e-10	2.6592e-10	0.074837	1	0
PROK1	84432	broad.mit.edu	37	1	110996644	110996644	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:110996644G>A	ENST00000271331.3	+	2	151	c.134G>A	c.(133-135)cGa>cAa	p.R45Q		NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	45					angiogenesis|positive regulation of cell division	extracellular region	growth factor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGTGGCTTCGAGGGCTGCGG	0.622000													24	14					0	0	0.083992	0	0
ISLR2	57611	broad.mit.edu	37	15	74425610	74425610	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:74425610C>A	ENST00000361742.3	+	4	1284	c.515C>A	c.(514-516)gCg>gAg	p.A172E	ISLR2_ENST00000565159.1_Missense_Mutation_p.A172E|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172E|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172E|ISLR2_ENST00000435464.1_Missense_Mutation_p.A172E|ISLR2_ENST00000419208.1_Missense_Mutation_p.A172E|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172E|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	172					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCGCTTAGCGCGCTGTCACAC	0.667000													81	10					1.15773e-35	1.53069e-35	0.139131	1	0
PPP2R5C	5527	broad.mit.edu	37	14	102391561	102391561	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:102391561G>C	ENST00000422945.2	+	16	1716	c.1620G>C	c.(1618-1620)ttG>ttC	p.L540F	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.L470F|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.L509F|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.L525F	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	509					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAAAGCCTTGGAAGCTCACT	0.637000													64	27					0	0	0.139131	0	0
ACBD3	64746	broad.mit.edu	37	1	226340302	226340302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:226340302G>C	ENST00000366812.5	-	7	1163	c.1109C>G	c.(1108-1110)gCa>gGa	p.A370G	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	370					steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GGATGGAGCTGCTATTACTGG	0.448000													76	139					0	0	0.139131	0	0
HECW1	23072	broad.mit.edu	37	7	43503399	43503399	+	Splice_Site	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:43503399G>A	ENST00000395891.1	+	14	3396		c.e14+1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCCAGCTTAGGTATTGGAGGA	0.602000													61	82					0	0	0.139131	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128796153	128796153	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:128796153C>T	ENST00000274487.4	+	1	196	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ADAMTS19-AS1_ENST00000502827.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	17					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGCTGGGGTTCCTGTCGAATG	0.622000													56	19					0	0	0.139131	0	0
PON3	5446	broad.mit.edu	37	7	94996800	94996800	+	Splice_Site	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:94996800T>C	ENST00000265627.5	-	5	378	c.367_splice	c.e5-1	p.D123_splice	PON3_ENST00000427422.1_Splice_Site_p.D123_splice|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			CACAGTATTGTCTACATGGAA	0.338000													85	63					0	0	0.139131	0	0
CTC1	80169	broad.mit.edu	37	17	8138161	8138161	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:8138161G>A	ENST00000315684.8	-	9	1530	c.1523C>T	c.(1522-1524)gCt>gTt	p.A508V		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	508					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAGGGTAGGAGCCAGGAGTTG	0.567000													51	84					0	0	0.139131	0	0
NEURL2	140825	broad.mit.edu	37	20	44519288	44519288	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr20:44519288T>C	ENST00000372518.4	-	1	638	c.343A>G	c.(343-345)Atc>Gtc	p.I115V		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	115	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGGCGCGTGATGGCGAAGACC	0.706000													46	9					0	0	0.139131	0	0
ARMC4	55130	broad.mit.edu	37	10	28270429	28270429	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:28270429T>C	ENST00000305242.5	-	7	994	c.902A>G	c.(901-903)aAa>aGa	p.K301R	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.K158R|ARMC4_ENST00000537576.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	301							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTTGGTGATTTTTCTCTTAA	0.294000													42	9					0	0	0.092188	0	0
GIT2	9815	broad.mit.edu	37	12	110427583	110427583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:110427583C>T	ENST00000360185.4	-	3	375	c.211G>A	c.(211-213)Ggt>Agt	p.G71S	GIT2_ENST00000553118.1_Missense_Mutation_p.G71S|GIT2_ENST00000547815.1_Missense_Mutation_p.G71S|GIT2_ENST00000355312.3_Missense_Mutation_p.G71S|GIT2_ENST00000457474.2_Missense_Mutation_p.G71S|GIT2_ENST00000551209.1_Missense_Mutation_p.G71S|GIT2_ENST00000338373.5_Missense_Mutation_p.G71S|GIT2_ENST00000361006.5_Missense_Mutation_p.G71S|GIT2_ENST00000354574.4_Missense_Mutation_p.G71S|GIT2_ENST00000343646.5_Missense_Mutation_p.G71S|GIT2_ENST00000320063.9_Missense_Mutation_p.G71S|GIT2_ENST00000356259.4_Missense_Mutation_p.G71S			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	71	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GAGTTAGCACCGTTATTATAC	0.398000													20	47					0	0	0.069288	0	0
ATP2A3	489	broad.mit.edu	37	17	3854894	3854894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:3854894G>A	ENST00000309890.7	-	4	455	c.305C>T	c.(304-306)gCc>gTc	p.A102V	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397043.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000352011.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A102V	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	102					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCCCACAATGGCGTTGGCCAC	0.687000													10	12					0	0	0.058154	0	0
TMEM255A	55026	broad.mit.edu	37	X	119421060	119421060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:119421060G>T	ENST00000371369.4	-	5	598	c.372C>A	c.(370-372)taC>taA	p.Y124*	TMEM255A_ENST00000440464.1_Nonsense_Mutation_p.Y124*|TMEM255A_ENST00000309720.5_Nonsense_Mutation_p.Y124*	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		ACCGGTTAGCGTAGAGTGGTT	0.448000													6	173					2.7689e-08	3.09928e-08	0.029380	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102292953	102292953	+	RNA	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:102292953T>C	ENST00000561463.1	+	0	999																											GGCACAGCGGTGCGACGAGAT	0.587000													5	18					0	0	0.047766	0	0
PLD1	5337	broad.mit.edu	37	3	171431702	171431702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:171431702G>A	ENST00000356327.5	-	9	962	c.892C>T	c.(892-894)Cga>Tga	p.R298*	PLD1_ENST00000340989.4_Nonsense_Mutation_p.R298*|PLD1_ENST00000351298.4_Nonsense_Mutation_p.R298*|PLD1_ENST00000342215.6_Nonsense_Mutation_p.R298*	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	298	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTATCAATTCGGATTCCATAT	0.338000													86	9					0	0	0.139131	0	0
NRAP	4892	broad.mit.edu	37	10	115384664	115384664	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:115384664T>A	ENST00000369358.4	-	22	2538	c.2294A>T	c.(2293-2295)cAg>cTg	p.Q765L	NRAP_ENST00000359988.3_Missense_Mutation_p.Q757L|NRAP_ENST00000369360.3_Missense_Mutation_p.Q730L|NRAP_ENST00000360478.3_Missense_Mutation_p.Q722L			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	757						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATGGACAGACTGCTCATTTCC	0.567000													39	12					0	0	0.086207	0	0
SRGAP1	57522	broad.mit.edu	37	12	64505580	64505580	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:64505580A>G	ENST00000355086.3	+	17	2482	c.1958A>G	c.(1957-1959)tAt>tGt	p.Y653C	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.Y630C|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Y590C	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	653	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATGGACCCTTATAACCTGGCC	0.378000													21	55					0	0	0.076483	0	0
KLF14	136259	broad.mit.edu	37	7	130418557	130418557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:130418557C>T	ENST00000310992.4	-	1	331	c.304G>A	c.(304-306)Gag>Aag	p.E102K		NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					CCCGAGTTCTCCCAGGAGCCC	0.771000													4	5					0	0	0.021553	0	0
LTBP1	4052	broad.mit.edu	37	2	33482371	33482371	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:33482371C>A	ENST00000404816.2	+	12	2541	c.2188C>A	c.(2188-2190)Cct>Act	p.P730T	LTBP1_ENST00000418533.2_Missense_Mutation_p.P404T|LTBP1_ENST00000390003.4_Missense_Mutation_p.P404T|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000407925.1_Missense_Mutation_p.P404T|LTBP1_ENST00000354476.3_Missense_Mutation_p.P730T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	730					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGAAATCTGTCCTGGTGGAAT	0.393000													29	39					5.97227e-30	7.74037e-30	0.045705	1	0
PIK3C2A	5286	broad.mit.edu	37	11	17139063	17139063	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:17139063C>T	ENST00000265970.7	-	18	3190	c.3191G>A	c.(3190-3192)aGg>aAg	p.R1064K	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R684K|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1064					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	ACTAGCCTGCCTTACTTTTTC	0.393000													51	13					0	0	0.139131	0	0
SPANXD	64648	broad.mit.edu	37	X	140785697	140785697	+	Silent	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:140785697T>C	ENST00000370515.3	-	2	552	c.219A>G	c.(217-219)cgA>cgG	p.R73R		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTCTGTTCTTTCGGGCGTGGT	0.433000													178	49					0	0	0.139131	0	0
SRSF2	6427	broad.mit.edu	37	17	74732524	74732524	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:74732524G>C	ENST00000392485.2	-	2	557	c.385C>G	c.(385-387)Cga>Gga	p.R129G	MFSD11_ENST00000586622.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000588460.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.R117G|SRSF2_ENST00000359995.5_Missense_Mutation_p.R129G	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	129	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	p.R129*(1)|p.R109*(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTCCGGGATCGGCTGCGGCGA	0.711000			Mis		"""MDS, CLL"""								12	85					0	0	0.093190	0	0
APCDD1L	164284	broad.mit.edu	37	20	57045686	57045686	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr20:57045686T>G	ENST00000371149.3	-	2	397	c.167A>C	c.(166-168)aAt>aCt	p.N56T	APCDD1L_ENST00000439429.1_Missense_Mutation_p.N67T	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	56						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CCAAGGTCCATTAAGGCGTGG	0.617000													7	10					0	0	0.038147	0	0
AFF3	3899	broad.mit.edu	37	2	100368683	100368683	+	Splice_Site	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:100368683C>A	ENST00000317233.4	-	8	1237	c.1002_splice	c.e8+1	p.K334_splice	AFF3_ENST00000356421.2_Splice_Site_p.K359_splice|AFF3_ENST00000409579.1_Splice_Site_p.K359_splice|AFF3_ENST00000409236.1_Splice_Site_p.K334_splice	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	334					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AAGATCTCACCTTATTTGGAA	0.443000													20	44					8.10497e-08	9.02079e-08	0.055883	1	0
DHRS4L2	317749	broad.mit.edu	37	14	24464313	24464313	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:24464313A>C	ENST00000335125.6	+	3	505	c.379A>C	c.(379-381)Atg>Ctg	p.M127L	DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.M127L|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.M125L|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.M26L|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.M127L	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	74							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TGGAAGCCTAATGGATGTCAC	0.522000													9	686					0	0	0.069234	0	0
TECRL	253017	broad.mit.edu	37	4	65274963	65274963	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr4:65274963A>G	ENST00000381210.3	-	1	217	c.107T>C	c.(106-108)tTg>tCg	p.L36S	TECRL_ENST00000507440.1_Missense_Mutation_p.L36S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	36					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAGTTTTGACAAAAAGTGAAA	0.413000													12	40					0	0	0.105934	0	0
EBF3	253738	broad.mit.edu	37	10	131640476	131640476	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:131640476C>A	ENST00000368648.3	-	13	1321	c.1249G>T	c.(1249-1251)Ggc>Tgc	p.G417C	EBF3_ENST00000355311.5_Missense_Mutation_p.G426C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	426					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGGTTGTTGCCCAGGGTGGGG	0.597000													64	41					1.42676e-28	1.83707e-28	0.139131	1	0
ZNF347	84671	broad.mit.edu	37	19	53644453	53644453	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:53644453C>T	ENST00000452676.2	-	5	2057	c.1631G>A	c.(1630-1632)tGt>tAt	p.C544Y	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.C544Y|ZNF347_ENST00000334197.7_Missense_Mutation_p.C543Y	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCACTCATTACACATATAAGG	0.398000													60	51					0	0	0.139131	0	0
ZNF85	7639	broad.mit.edu	37	19	21132175	21132175	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:21132175C>A	ENST00000601023.1	+	2	1324	c.678C>A	c.(676-678)ccC>ccA	p.P226P	ZNF85_ENST00000345030.6_Silent_p.P252P|ZNF85_ENST00000328178.8_Silent_p.P285P			Q03923	ZNF85_HUMAN	zinc finger protein 85	285						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAGAAACCCTACAAATGTA	0.353000													13	15					0.00185496	0.00195415	0.105934	1	0
PKP4	8502	broad.mit.edu	37	2	159519912	159519912	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:159519912A>T	ENST00000389757.3	+	15	2657	c.2532A>T	c.(2530-2532)gaA>gaT	p.E844D	PKP4_ENST00000389759.3_Missense_Mutation_p.E844D|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	844					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCACCTTGGAAGGCTCTGCAG	0.493000										HNSCC(62;0.18)			34	54					0	0	0.059317	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368478	20368478	+	RNA	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:20368478C>T	ENST00000593655.1	-	0	199																											AACGGCAGGGCGGCAGCGGCT	0.453000													11	10					0	0	0.069234	0	0
RIMBP2	23504	broad.mit.edu	37	12	130892304	130892304	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:130892304G>T	ENST00000261655.4	-	16	3055	c.2892C>A	c.(2890-2892)gaC>gaA	p.D964E		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	964	SH3 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTTCTCTGGGGTCGTAGTCAT	0.552000													109	218					4.95557e-46	6.59627e-46	0.139131	1	0
OR8I2	120586	broad.mit.edu	37	11	55861497	55861497	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:55861497C>A	ENST00000302124.2	+	1	745	c.714C>A	c.(712-714)tcC>tcA	p.S238S	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGGCCTTCTCCACCTGCGCAT	0.493000													62	66					4.60343e-24	5.8888e-24	0.139131	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36207835	36207835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:36207835C>T	ENST00000258840.6	-	12	1861	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D491N|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	491					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGAACATGATCAGCAGTATTG	0.388000													5	133					0	0	0.014758	0	0
EPHB6	2051	broad.mit.edu	37	7	142568363	142568363	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:142568363G>T	ENST00000392957.2	+	19	3669	c.2882G>T	c.(2881-2883)gGa>gTa	p.G961V	EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.G961V|EPHB6_ENST00000411471.2_Missense_Mutation_p.G684V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	961	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCAGCCATTGGACTGGAGTGC	0.597000													36	127					9.17885e-22	1.13015e-21	0.059317	1	0
OR8J3	81168	broad.mit.edu	37	11	55904545	55904545	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:55904545G>T	ENST00000301529.1	-	1	649	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATTGAAATAAGATACTAGAAC	0.363000													26	42					2.41591e-17	2.86707e-17	0.099896	1	0
PLEKHM2	23207	broad.mit.edu	37	1	16058487	16058487	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:16058487A>G	ENST00000375799.3	+	17	2796	c.2569A>G	c.(2569-2571)Agc>Ggc	p.S857G	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.S837G|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	857	Interaction with sifA.|PH.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AAGTGCCGAGAGCGAGGCCGA	0.667000													10	8					0	0	0.069234	0	0
TMEM132E	124842	broad.mit.edu	37	17	32963160	32963160	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:32963160C>G	ENST00000321639.5	+	9	2170	c.1842C>G	c.(1840-1842)agC>agG	p.S614R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	614						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCCTGGGAGCAGCCACACCA	0.632000													7	20					0	0	0.029380	0	0
TRHR	7201	broad.mit.edu	37	8	110099852	110099852	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:110099852C>A	ENST00000518632.1	+	2	462	c.111C>A	c.(109-111)ggC>ggA	p.G37G	TRHR_ENST00000311762.2_Silent_p.G37G			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	37						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTATTTGTGGCCTGGGCATTG	0.507000													38	53					3.21399e-22	4.00732e-22	0.074837	1	0
SERPINE1	5054	broad.mit.edu	37	7	100771855	100771855	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:100771855G>A	ENST00000223095.4	+	2	338	c.181G>A	c.(181-183)Ggg>Agg	p.G61R	SERPINE1_ENST00000445463.2_Missense_Mutation_p.G46R	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	61					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CTCACCCTATGGGGTGGCCTC	0.592000													37	37					0	0	0.069456	0	0
EP400	57634	broad.mit.edu	37	12	132491260	132491260	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:132491260C>T	ENST00000333577.4	+	16	3359	c.3250C>T	c.(3250-3252)Cca>Tca	p.P1084S	EP400_ENST00000389562.2_Missense_Mutation_p.P1047S|EP400_ENST00000389561.2_Missense_Mutation_p.P1048S|EP400_ENST00000330386.6_Missense_Mutation_p.P1048S|EP400_ENST00000332482.4_Missense_Mutation_p.P1011S			Q96L91	EP400_HUMAN	E1A binding protein p400	1084	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTTTAATGCTCCATCTTTGTT	0.398000													20	21					0	0	0.055883	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458669	90458669	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:90458669T>A	ENST00000603238.1	+	2	345	c.345T>A	c.(343-345)ccT>ccA	p.115_115insP																								ACAGTACCCCTCCCACAGCGT	0.517000													33	610					0	0	0.059317	0	0
PLXNA2	5362	broad.mit.edu	37	1	208216455	208216455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:208216455C>T	ENST00000367033.3	-	21	4725	c.3968G>A	c.(3967-3969)cGa>cAa	p.R1323Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1323					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAACAGGACTCGCATAGCGTA	0.607000													29	32					0	0	0.134883	0	0
FLNC	2318	broad.mit.edu	37	7	128488731	128488731	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:128488731C>G	ENST00000325888.8	+	27	4958	c.4697C>G	c.(4696-4698)gCa>gGa	p.A1566G	FLNC_ENST00000346177.6_Missense_Mutation_p.A1566G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1566					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACCATCGACGCACGGGACGCG	0.662000													41	133					0	0	0.139131	0	0
ADCK4	79934	broad.mit.edu	37	19	41206235	41206235	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:41206235T>G	ENST00000324464.3	-	11	1316	c.1015A>C	c.(1015-1017)Agc>Cgc	p.S339R	ADCK4_ENST00000243583.6_Missense_Mutation_p.S298R|ADCK4_ENST00000450541.1_Missense_Mutation_p.S298R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	339	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AGGTCCTGGCTTAGGCCCTGG	0.672000													17	47					0	0	0.146539	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412359	139412359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr9:139412359C>T	ENST00000277541.6	-	8	1361	c.1286G>A	c.(1285-1287)tGc>tAc	p.C429Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	429	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTGTTGATGCACTTGCCCGC	0.662000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			38	37					0	0	0.086207	0	0
ANKRD17	26057	broad.mit.edu	37	4	73984419	73984419	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr4:73984419C>G	ENST00000358602.4	-	22	4290	c.4174G>C	c.(4174-4176)Gca>Cca	p.A1392P	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1279P|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1141P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1392					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAAATGCTGCCATAAGAGGA	0.423000													47	19					0	0	0.139131	0	0
NRCAM	4897	broad.mit.edu	37	7	107831704	107831704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:107831704C>T	ENST00000379028.3	-	19	2397	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I	NRCAM_ENST00000413765.2_Missense_Mutation_p.V624I|NRCAM_ENST00000379022.4_Missense_Mutation_p.V643I|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.V643I|NRCAM_ENST00000379024.4_Missense_Mutation_p.V624I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	643					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACCGTAAACGGGAGCTGGA	0.318000													9	15					0	0	0.093190	0	0
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1006	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587000													6	16					0	0	0.029380	0	0
RYR1	6261	broad.mit.edu	37	19	39013683	39013683	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:39013683G>A	ENST00000355481.4	+	68	10406	c.10275G>A	c.(10273-10275)acG>acA	p.T3425T	RYR1_ENST00000359596.3_Silent_p.T3425T|RYR1_ENST00000360985.3_Silent_p.T3425T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3425					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGTGGCTGACGGAGCCGAATC	0.662000													12	8					0	0	0.080935	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89104958	89104958	+	RNA	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:89104958A>G	ENST00000393525.3	+	0	4898																											AATTCAAATCATTGATTTCTG	0.289000													2	3					0	0	0.009096	0	0
CABS1	85438	broad.mit.edu	37	4	71201892	71201892	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr4:71201892A>T	ENST00000273936.4	+	1	1195	c.1136A>T	c.(1135-1137)gAa>gTa	p.E379V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	379						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCACAACTGAAACGGATATC	0.398000													29	12					0	0	0.125774	0	0
SPATA17	128153	broad.mit.edu	37	1	217955658	217955658	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:217955658A>G	ENST00000366933.4	+	8	921	c.866A>G	c.(865-867)gAc>gGc	p.D289G	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	289						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AATGTAAATGACAATATGTGA	0.363000													15	27					0	0	0.033300	0	0
CD300E	342510	broad.mit.edu	37	17	72613588	72613588	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:72613588C>T	ENST00000392619.1	-	2	173	c.138G>A	c.(136-138)aaG>aaA	p.K46K	CD300E_ENST00000426295.2_Silent_p.K60K|CD300E_ENST00000328630.3_Silent_p.K19K	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	19	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCCGGGGCCCTTCAGAGACA	0.552000													25	18					0	0	0.091800	0	0
TMEM132E	124842	broad.mit.edu	37	17	32963160	32963160	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:32963160C>G	ENST00000321639.5	+	9	2170	c.1842C>G	c.(1840-1842)agC>agG	p.S614R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	614						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCCTGGGAGCAGCCACACCA	0.632000													7	20					0	0	0.029380	0	0
ITGB1	3688	broad.mit.edu	37	10	33199209	33199209	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr10:33199209A>C	ENST00000396033.2	-	14	2241	c.2106T>G	c.(2104-2106)taT>taG	p.Y702*	ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Y702*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	702					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				AATACGTAAAATAGAACCAAC	0.433000													17	8					0	0	0.049695	0	0
CCDC89	220388	broad.mit.edu	37	11	85396180	85396180	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:85396180G>A	ENST00000316398.3	-	1	1140	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	332						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCTACTTTGCGCTGAAGCTCC	0.498000													23	71					0	0	0.076483	0	0
ZNF440	126070	broad.mit.edu	37	19	11943141	11943141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:11943141C>T	ENST00000304060.5	+	4	1314	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGTTCCCTTCGATATCATGA	0.433000													27	22					0	0	0.091800	0	0
KCNV1	27012	broad.mit.edu	37	8	110980617	110980617	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr8:110980617G>T	ENST00000524391.1	-	4	2235	c.1203C>A	c.(1201-1203)gaC>gaA	p.D401E	KCNV1_ENST00000297404.1_Missense_Mutation_p.D401E			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	401						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTGTGGTGGTGTCTGGTCTAA	0.478000													43	73					4.67007e-22	5.95989e-22	0.104719	1	0
TMEM147	10430	broad.mit.edu	37	19	36037859	36037859	+	Silent	SNP	A	A	G	rs35486099		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:36037859A>G	ENST00000392204.2	+	4	538	c.210A>G	c.(208-210)ctA>ctG	p.L70L	TMEM147_ENST00000222284.5_Silent_p.L119L|TMEM147_ENST00000392205.1_Silent_p.L119L	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	119						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATTCCCCTATGGGTCGGAG	0.562000													55	57					0	0	0.139131	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000269305.4_Missense_Mutation_p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	8					0	0	0.092188	0	0
OR8B4	283162	broad.mit.edu	37	11	124294456	124294456	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:124294456A>C	ENST00000356130.3	-	1	333	c.312T>G	c.(310-312)tgT>tgG	p.C104W		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGACAAAGAAACAGAAGAAAA	0.423000													16	51					0	0	0.038395	0	0
NLRP6	171389	broad.mit.edu	37	11	284488	284488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:284488G>A	ENST00000534750.1	+	7	2588	c.2383G>A	c.(2383-2385)Gac>Aac	p.D795N	NLRP6_ENST00000312165.5_Missense_Mutation_p.D796N	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	796						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACAGCTGCCTGACCCCCAGCG	0.697000													18	7					0	0	0.055883	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368478	20368478	+	RNA	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:20368478C>T	ENST00000593655.1	-	0	199																											AACGGCAGGGCGGCAGCGGCT	0.453000													11	10					0	0	0.069234	0	0
ZNF687	57592	broad.mit.edu	37	1	151259689	151259689	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:151259689G>T	ENST00000368879.2	+	2	1020	c.922G>T	c.(922-924)Ggg>Tgg	p.G308W		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCCTCTAGTGGGGCCGAGGC	0.572000													29	42					4.87955e-14	5.83804e-14	0.108266	1	0
SERPINE1	5054	broad.mit.edu	37	7	100771855	100771855	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:100771855G>A	ENST00000223095.4	+	2	338	c.181G>A	c.(181-183)Ggg>Agg	p.G61R	SERPINE1_ENST00000445463.2_Missense_Mutation_p.G46R	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	61					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CTCACCCTATGGGGTGGCCTC	0.592000													37	37					0	0	0.069456	0	0
ENTPD4	9583	broad.mit.edu	37	8	23243522	23243522	+	Silent	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr8:23243522A>T	ENST00000356206.6	-	13	1870	c.1635T>A	c.(1633-1635)ggT>ggA	p.G545G	LOXL2_ENST00000389131.3_Intron			Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	0					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		gCTTTGGacaaccccctgagc	0.463000													39	14					0	0	0.117977	0	0
C17orf75	64149	broad.mit.edu	37	17	30668273	30668273	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:30668273G>A	ENST00000577809.1	-	2	220	c.171C>T	c.(169-171)gaC>gaT	p.D57D	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Silent_p.D57D	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	57					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGGGCTTCCGTCCTCACTGT	0.478000													93	148					0	0	0.139131	0	0
SLC6A5	9152	broad.mit.edu	37	11	20652257	20652257	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:20652257G>A	ENST00000525748.1	+	10	1793	c.1520G>A	c.(1519-1521)tGc>tAc	p.C507Y	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	507					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ATTGTCACCTGCACCAACAGT	0.493000													5	115					0	0	0.021553	0	0
CBLB	868	broad.mit.edu	37	3	105572471	105572471	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr3:105572471T>C	ENST00000264122.4	-	3	527	c.206A>G	c.(205-207)aAt>aGt	p.N69S	CBLB_ENST00000405772.1_Missense_Mutation_p.N69S|CBLB_ENST00000403724.1_Missense_Mutation_p.N69S|CBLB_ENST00000394027.3_Missense_Mutation_p.N91S|CBLB_ENST00000545639.1_Missense_Mutation_p.N91S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	69	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGGTGGGCTATTTTTCAACTG	0.289000			Mis S		AML								58	6					0	0	0.139131	0	0
TMEM259	91304	broad.mit.edu	37	19	1011795	1011795	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:1011795C>T	ENST00000356663.3	-	7	1066	c.945G>A	c.(943-945)acG>acA	p.T315T	TMEM259_ENST00000333175.5_Silent_p.T315T	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		ACACGCTCAGCGTCTGCAAGG	0.711000													3	5					0	0	0.009096	0	0
TAF1C	9013	broad.mit.edu	37	16	84214963	84214963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr16:84214963G>A	ENST00000567759.1	-	10	1395	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	TAF1C_ENST00000378541.4_Missense_Mutation_p.R405C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R312C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R379C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R312C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R73C	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	405					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						ACTCCGGTGCGGTCACCCACG	0.667000													15	4					0	0	0.132662	0	0
HSPA6	3310	broad.mit.edu	37	1	161495385	161495385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:161495385C>T	ENST00000309758.4	+	1	1350	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	313					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGACCTCTTCCGCAGCACCCT	0.632000													5	30					0	0	0.021553	0	0
PALB2	79728	broad.mit.edu	37	16	23646401	23646401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr16:23646401G>A	ENST00000261584.4	-	4	1618	c.1466C>T	c.(1465-1467)tCt>tTt	p.S489F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	489					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CCCAGCGGGAGAGCTGACTTT	0.468000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					21	163					0	0	0.062417	0	0
APOH	350	broad.mit.edu	37	17	64224252	64224252	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:64224252G>C	ENST00000205948.6	-	2	164	c.127C>G	c.(127-129)Cca>Gca	p.P43A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	43	Sushi 1.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCTTCTCCTGGCTCATAGAAT	0.483000													76	97					0	0	0.139131	0	0
ESPL1	9700	broad.mit.edu	37	12	53662897	53662897	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr12:53662897C>A	ENST00000257934.4	+	3	262	c.171C>A	c.(169-171)tgC>tgA	p.C57*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.C57*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	57					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGAGGGCTTGCAACCAGCAGC	0.572000													40	31					1.96642e-18	2.43982e-18	0.092188	1	0
SRPK2	6733	broad.mit.edu	37	7	104787081	104787081	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:104787081G>T	ENST00000357311.3	-	7	784	c.613C>A	c.(613-615)Cac>Aac	p.H205N	SRPK2_ENST00000489828.1_Missense_Mutation_p.H205N|SRPK2_ENST00000393651.3_Missense_Mutation_p.H216N	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	205	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CACTTACTGTGTAAGTAATCT	0.338000													10	37					3.03607e-14	3.66517e-14	0.093190	1	0
MYO1C	4641	broad.mit.edu	37	17	1386944	1386944	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:1386944G>A	ENST00000359786.5	-	3	631	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	MYO1C_ENST00000575158.1_Missense_Mutation_p.R68C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R68C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R79C|MYO1C_ENST00000438665.2_Missense_Mutation_p.R84C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	103	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)		CCACGGTAACGCTCCATATGC	0.627000													6	13					0	0	0.029380	0	0
CLVS1	157807	broad.mit.edu	37	8	62289235	62289235	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr8:62289235A>G	ENST00000519846.1	+	4	999	c.527A>G	c.(526-528)cAg>cGg	p.Q176R	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.Q176R			Q8IUQ0	CLVS1_HUMAN	clavesin 1	176	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCGGAGCTTCAGATAAATGGC	0.448000													3	82					0	0	0.115264	0	0
OR5H15	403274	broad.mit.edu	37	3	97888085	97888085	+	Missense_Mutation	SNP	C	C	A	rs62266800		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr3:97888085C>A	ENST00000356526.2	+	1	542	c.542C>A	c.(541-543)aCt>aAt	p.T181N		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TACTGTGACACTATCCCATTG	0.313000													24	4					1.04121e-07	1.20278e-07	0.108266	1	0
KRT32	3882	broad.mit.edu	37	17	39616390	39616390	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:39616390C>A	ENST00000225899.3	-	7	1422	c.1319G>T	c.(1318-1320)tGc>tTc	p.C440F		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	440	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCAGGGTGAGCAAGGCATGCC	0.647000													15	22					0.000422831	0.000460646	0.146539	1	0
S1PR4	8698	broad.mit.edu	37	19	3179935	3179935	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:3179935G>A	ENST00000246115.3	+	1	1200	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	382					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCCAGCGTGCGGAGCATCTGA	0.652000													50	55					0	0	0.139131	0	0
GRN	2896	broad.mit.edu	37	17	42429495	42429495	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:42429495C>T	ENST00000053867.3	+	11	1354	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V	GRN_ENST00000589265.1_Missense_Mutation_p.A274V	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	431					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGATGCCTGCCCGCCGGGCT	0.667000													55	57					0	0	0.139131	0	0
UBE2M	9040	broad.mit.edu	37	19	59068277	59068277	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:59068277C>T	ENST00000253023.3	-	3	803	c.225G>A	c.(223-225)aaG>aaA	p.K75K		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	75					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGAACACAAACTTCCCACTCT	0.567000													25	10					0	0	0.099896	0	0
OR2L2	26246	broad.mit.edu	37	1	248202502	248202502	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:248202502A>C	ENST00000366479.2	+	1	1029	c.933A>C	c.(931-933)aaA>aaC	p.K311N	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTCAGTGAAAATGTAGACAT	0.443000													7	69					0	0	0.038147	0	0
TTN	7273	broad.mit.edu	37	2	179581995	179581995	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:179581995C>A	ENST00000589042.1	-	88	25690	c.25466G>T	c.(25465-25467)tGg>tTg	p.W8489L	TTN_ENST00000342992.6_Missense_Mutation_p.W7245L|TTN_ENST00000591111.1_Missense_Mutation_p.W8172L|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8172	Ig-like 67.						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)			ATCTTTGGCCCAAGTGATTTT	0.428000													34	37					4.3181e-19	5.40771e-19	0.054565	1	0
KIF13A	63971	broad.mit.edu	37	6	17764996	17764996	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr6:17764996C>A	ENST00000378814.5	-	37	4618	c.4619G>T	c.(4618-4620)cGt>cTt	p.R1540L	KIF13A_ENST00000259711.6_Missense_Mutation_p.R1588L|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1553L|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1540L|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1553L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1588					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTAGGGCTACGGGACACTTC	0.502000													11	6					3.86212e-05	4.27706e-05	0.069234	1	0
CACNA1G	8913	broad.mit.edu	37	17	48699024	48699024	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:48699024C>A	ENST00000354983.4	+	33	6199	c.5827C>A	c.(5827-5829)Cct>Act	p.P1943T	CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1977T|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1966T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1906T|CACNA1G_ENST00000358244.5_Intron	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1977					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTCTAGATCCCTCTAGCTGA	0.562000													13	28					9.31168e-06	1.0398e-05	0.105934	1	0
DOCK6	57572	broad.mit.edu	37	19	11323947	11323947	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:11323947G>A	ENST00000294618.7	-	35	4407	c.4396C>T	c.(4396-4398)Ctc>Ttc	p.L1466F	DOCK6_ENST00000319867.7_Missense_Mutation_p.L805F|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1466					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TGTCGTAGGAGCCTCAGGCAC	0.652000													12	30					0	0	0.080935	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			43	5					0	0	0.104719	0	0
TNRC18	84629	broad.mit.edu	37	7	5391493	5391493	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:5391493C>T	ENST00000399537.4	-	17	5775	c.5427G>A	c.(5425-5427)gcG>gcA	p.A1809A	TNRC18_ENST00000430969.1_Silent_p.A1809A			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1809							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGGAGGAACGCGCCTCGGCCT	0.592000													15	12					0	0	0.146539	0	0
KSR1	8844	broad.mit.edu	37	17	25783823	25783823	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:25783823A>T	ENST00000319524.6	+	1	154	c.154A>T	c.(154-156)Atc>Ttc	p.I52F	KSR1_ENST00000509603.2_Missense_Mutation_p.I52F			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	50					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGACATCTCCATCGGCAGCCT	0.716000													29	32					0	0	0.059317	0	0
TMPO	7112	broad.mit.edu	37	12	98931317	98931317	+	Silent	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr12:98931317A>T	ENST00000556029.1	+	4	986	c.630A>T	c.(628-630)gtA>gtT	p.V210V	TMPO_ENST00000393053.2_Silent_p.V210V|TMPO_ENST00000261210.5_Silent_p.V210V|TMPO_ENST00000343315.5_Silent_p.V210V	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	210	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGACTCCAGTAACACTCAAGC	0.388000													7	14					0	0	0.029380	0	0
KIAA1958	158405	broad.mit.edu	37	9	115407987	115407987	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr9:115407987A>G	ENST00000337530.6	+	3	1525	c.1229A>G	c.(1228-1230)gAt>gGt	p.D410G	KIAA1958_ENST00000536272.1_Missense_Mutation_p.D438G	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	410										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GACTTGAATGATCTGTGTACC	0.383000													16	40					0	0	0.038395	0	0
BCAP29	55973	broad.mit.edu	37	7	107234422	107234422	+	Silent	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:107234422A>G	ENST00000379119.2	+	3	230	c.216A>G	c.(214-216)aaA>aaG	p.K72K	BCAP29_ENST00000465919.1_5'UTR|BCAP29_ENST00000005259.4_Silent_p.K72K|BCAP29_ENST00000379117.2_Silent_p.K72K|BCAP29_ENST00000445771.2_Silent_p.K72K|BCAP29_ENST00000494086.1_3'UTR	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	72					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AAGTAAGGAAATATTCCTCAG	0.353000													49	33					0	0	0.139131	0	0
VWA3A	146177	broad.mit.edu	37	16	22134933	22134933	+	Splice_Site	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr16:22134933G>T	ENST00000389397.4	+	16	1533		c.e16-1		VWA3A_ENST00000389398.5_Splice_Site			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A							extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CACTTCTGCAGCAACAGCTCA	0.572000													38	85					2.35968e-33	3.19392e-33	0.080422	1	0
HDGFRP2	84717	broad.mit.edu	37	19	4498321	4498321	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:4498321A>G	ENST00000301284.4	+	12	1485	c.1421A>G	c.(1420-1422)aAg>aGg	p.K474R	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.K474R	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		474					transcription, DNA-dependent	nucleus	DNA binding|protein binding										GTGGAGGAGAAGCTGCAGAAG	0.647000													25	19					0	0	0.108266	0	0
LRP1B	53353	broad.mit.edu	37	2	141359067	141359067	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:141359067A>T	ENST00000389484.3	-	42	7912	c.6941T>A	c.(6940-6942)aTg>aAg	p.M2314K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2314					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCTTCTGACATGGTGATGAC	0.428000										TSP Lung(27;0.18)			13	36					0	0	0.119110	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055160	9055160	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr3:9055160C>A	ENST00000383836.3	-	17	2406	c.1979G>T	c.(1978-1980)gGg>gTg	p.G660V	SRGAP3_ENST00000360413.3_Missense_Mutation_p.G636V	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	660	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GAGGGTAGGCCCGAAGCAGAT	0.527000			T	RAF1	pilocytic astrocytoma								8	36					5.18039e-06	5.88282e-06	0.038147	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	134					0	0	0.115264	0	0
PRRX1	5396	broad.mit.edu	37	1	170695536	170695536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:170695536C>G	ENST00000239461.6	+	3	906	c.593C>G	c.(592-594)cCg>cGg	p.P198R	PRRX1_ENST00000497230.2_Missense_Mutation_p.P198R|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_Missense_Mutation_p.P198R	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAGCGTCTCCGTACAGGTGA	0.562000													25	37					0	0	0.116897	0	0
USP16	10600	broad.mit.edu	37	21	30419482	30419482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr21:30419482C>A	ENST00000334352.4	+	15	2082	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L|USP16_ENST00000535828.1_Missense_Mutation_p.F246L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	617					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAACTGCTTTCTGTACTCTTG	0.363000													62	13					9.4991e-31	1.27288e-30	0.139131	1	0
TNRC6B	23112	broad.mit.edu	37	22	40658079	40658079	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr22:40658079G>T	ENST00000454349.2	+	4	570	c.359G>T	c.(358-360)gGt>gTt	p.G120V	TNRC6B_ENST00000335727.8_Missense_Mutation_p.G120V|TNRC6B_ENST00000402203.1_Missense_Mutation_p.G156V|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G156V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	120					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CTCCTTGGGGGTGGGGCAGGG	0.632000													8	1					0.00448238	0.00480511	0.047766	1	0
GIMAP6	474344	broad.mit.edu	37	7	150325295	150325295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:150325295G>A	ENST00000328902.5	-	3	607	c.391C>T	c.(391-393)Caa>Taa	p.Q131*	GIMAP6_ENST00000493969.1_Missense_Mutation_p.T56I	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	131							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCCCAGTTGTGTCACCAGG	0.632000													17	89					0	0	0.033300	0	0
COL1A2	1278	broad.mit.edu	37	7	94038122	94038122	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:94038122C>A	ENST00000297268.6	+	16	1250	c.779C>A	c.(778-780)gCc>gAc	p.A260D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	260					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)	TTCCCAGGTGCCCCTGGCCCC	0.433000										HNSCC(75;0.22)			7	63					1.26484e-09	1.4999e-09	0.038147	1	0
STXBP4	252983	broad.mit.edu	37	17	53120624	53120624	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:53120624G>A	ENST00000376352.2	+	11	1090	c.883G>A	c.(883-885)Gat>Aat	p.D295N	STXBP4_ENST00000398391.2_Missense_Mutation_p.D220N|STXBP4_ENST00000299341.4_Missense_Mutation_p.D220N|STXBP4_ENST00000434978.2_Missense_Mutation_p.D295N|STXBP4_ENST00000405898.1_Missense_Mutation_p.D295N	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	295						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTCAGAAGCAGATGAAATGGA	0.313000													5	9					0	0	0.014758	0	0
OR51A4	401666	broad.mit.edu	37	11	4967665	4967665	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:4967665G>C	ENST00000380373.2	-	1	691	c.666C>G	c.(664-666)atC>atG	p.I222M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTCTTGAGGATCAGGGTGT	0.433000													23	13					0	0	0.076483	0	0
MUC17	140453	broad.mit.edu	37	7	100676474	100676474	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:100676474A>G	ENST00000306151.4	+	3	1841	c.1777A>G	c.(1777-1779)Act>Gct	p.T593A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	593	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCAACAACTCCTGCTGA	0.478000													8	665					0	0	0.038147	0	0
PCF11	51585	broad.mit.edu	37	11	82881002	82881002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:82881002C>A	ENST00000298281.4	+	8	4077	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1209					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TATACCTGCTCCAATGACAGT	0.348000													12	14					3.07112e-06	3.51735e-06	0.080935	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84582032	84582032	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr15:84582032C>A	ENST00000286744.5	+	16	2113	c.1889C>A	c.(1888-1890)gCc>gAc	p.A630D	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A630D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	630						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGAGCCCGGCCTCCCGAGAG	0.612000													58	14					6.60958e-23	8.59887e-23	0.139131	1	0
KIF21B	23046	broad.mit.edu	37	1	200967679	200967679	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:200967679G>A	ENST00000332129.2	-	14	2226	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	KIF21B_ENST00000461742.2_Missense_Mutation_p.A637V|KIF21B_ENST00000422435.2_Missense_Mutation_p.A637V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A637V	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	637					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTCAGGTCGGCCAGGTCCGC	0.587000													31	44					0	0	0.059317	0	0
HYAL4	23553	broad.mit.edu	37	7	123508362	123508362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:123508362G>A	ENST00000223026.4	+	3	673	c.35G>A	c.(34-36)tGt>tAt	p.C12Y	HYAL4_ENST00000476325.1_Missense_Mutation_p.C12Y	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	12					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTAAAGCTTTGTGTTGTTCAA	0.348000													42	75					0	0	0.111260	0	0
ADCY1	107	broad.mit.edu	37	7	45614734	45614734	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:45614734G>T	ENST00000297323.7	+	1	614	c.592G>T	c.(592-594)Gtc>Ttc	p.V198F	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	198					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCACTTGCTGGTCACAGCCAC	0.642000													17	27					2.5808e-16	3.14388e-16	0.038395	1	0
LIG4	3981	broad.mit.edu	37	13	108861972	108861972	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr13:108861972T>A	ENST00000356922.4	-	2	1917	c.1645A>T	c.(1645-1647)Att>Ttt	p.I549F	LIG4_ENST00000405925.1_Missense_Mutation_p.I549F|LIG4_ENST00000442234.1_Missense_Mutation_p.I549F	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	549					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAAGGTTCAATGTATACTTCT	0.403000								Non-homologous end-joining					34	13					0	0	0.059317	0	0
BAGE2	85319	broad.mit.edu	37	21	11098870	11098870	+	RNA	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr21:11098870C>A	ENST00000470054.1	-	0	55									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaactcccccttctcctggt	0.622000													11	14					5.50884e-06	6.20323e-06	0.093190	1	0
CDK13	8621	broad.mit.edu	37	7	40037230	40037230	+	Missense_Mutation	SNP	C	C	G	rs34775357	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:40037230C>G	ENST00000181839.4	+	3	2614	c.2009C>G	c.(2008-2010)aCa>aGa	p.T670R	CDK13_ENST00000340829.5_Missense_Mutation_p.T670R|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	670			T -> R (in dbSNP:rs34775357).		alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.T670R(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GAAAAGAAAACAGCAACACAG	0.433000													3	123					0	0	0.115264	0	0
HDAC9	9734	broad.mit.edu	37	7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:18625006G>A	ENST00000406451.3	+	3	275	c.125G>A	c.(124-126)cGt>cAt	p.R42H	HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493000													48	87					0	0	0.139131	0	0
SNHG14	104472715	broad.mit.edu	37	15	25444646	25444646	+	RNA	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr15:25444646A>T	ENST00000424208.1	+	0	1811				SNHG14_ENST00000424333.1_RNA|SNORD115-16_ENST00000363887.1_RNA	NR_003305.1																						ATGACTTAAAAATCATGCTCA	0.478000													7	348					0	0	0.047766	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217266	26217266	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr6:26217266G>A	ENST00000303910.2	+	1	102	c.64G>A	c.(64-66)Gcc>Acc	p.A22T		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	22					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TTCTTCCAGGGCCGGTCTTCA	0.577000													22	12					0	0	0.055883	0	0
THEM5	284486	broad.mit.edu	37	1	151820766	151820766	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:151820766A>C	ENST00000368817.5	-	4	598	c.467T>G	c.(466-468)tTt>tGt	p.F156C	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	156							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGTGAGCAAACCTGGGGGT	0.602000													13	26					0	0	0.083992	0	0
PADI4	23569	broad.mit.edu	37	1	17668883	17668883	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:17668883G>A	ENST00000375448.4	+	8	947	c.921G>A	c.(919-921)gaG>gaA	p.E307E	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	307					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCCCGCAGGAGGTGTACGCGT	0.632000													15	7					0	0	0.146539	0	0
TTC39C	125488	broad.mit.edu	37	18	21703803	21703803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr18:21703803C>T	ENST00000540918.2	+	4	521	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	TTC39C_ENST00000317571.3_Nonsense_Mutation_p.Q398*|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.Q337*			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	398							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TACAGTTTGTCAGGGAGCCAC	0.368000													12	22					0	0	0.105934	0	0
OR4C6	219432	broad.mit.edu	37	11	55432771	55432771	+	Silent	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:55432771T>C	ENST00000314259.3	+	1	158	c.129T>C	c.(127-129)atT>atC	p.I43I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATCTACTTATTGTGGTAACTA	0.408000													82	66					0	0	0.139131	0	0
ASNS	440	broad.mit.edu	37	7	97488686	97488686	+	Missense_Mutation	SNP	G	G	A	rs138299423		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:97488686G>A	ENST00000175506.4	-	6	1040	c.512C>T	c.(511-513)gCg>gTg	p.A171V	ASNS_ENST00000437628.1_Missense_Mutation_p.A88V|ASNS_ENST00000394308.3_Missense_Mutation_p.A171V|ASNS_ENST00000394309.3_Missense_Mutation_p.A171V|ASNS_ENST00000444334.1_Missense_Mutation_p.A150V|ASNS_ENST00000422745.1_Missense_Mutation_p.A150V|ASNS_ENST00000455086.1_Missense_Mutation_p.A88V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	171	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAAGGGAGTCGCGGAGTGCTT	0.368000													39	63					0	0	0.080422	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319078	21319078	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:21319078A>T	ENST00000583088.1	+	3	1319	c.424A>T	c.(424-426)Acc>Tcc	p.T142S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T142S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGAGACGCAGACCACCATCGG	0.657000										Prostate(3;0.18)			13	63					0	0	0.119110	0	0
ARID3A	1820	broad.mit.edu	37	19	971943	971943	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:971943G>C	ENST00000263620.3	+	9	1987	c.1660G>C	c.(1660-1662)Ggc>Cgc	p.G554R		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	554	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		Aggcggcggcggcggcggcag	0.667000													16	47					0	0	0.146539	0	0
ISLR2	57611	broad.mit.edu	37	15	74425610	74425610	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr15:74425610C>A	ENST00000361742.3	+	4	1284	c.515C>A	c.(514-516)gCg>gAg	p.A172E	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A172E|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172E|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172E|ISLR2_ENST00000419208.1_Missense_Mutation_p.A172E|ISLR2_ENST00000435464.1_Missense_Mutation_p.A172E|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172E	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	172					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCGCTTAGCGCGCTGTCACAC	0.667000													81	10					1.15773e-35	1.58302e-35	0.139131	1	0
PPP2R5C	5527	broad.mit.edu	37	14	102391561	102391561	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr14:102391561G>C	ENST00000422945.2	+	16	1716	c.1620G>C	c.(1618-1620)ttG>ttC	p.L540F	PPP2R5C_ENST00000328724.5_Missense_Mutation_p.L525F|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.L470F|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.L509F	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	509					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAAAGCCTTGGAAGCTCACT	0.637000													64	27					0	0	0.139131	0	0
ACBD3	64746	broad.mit.edu	37	1	226340302	226340302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:226340302G>C	ENST00000366812.5	-	7	1163	c.1109C>G	c.(1108-1110)gCa>gGa	p.A370G	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	370					steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GGATGGAGCTGCTATTACTGG	0.448000													76	139					0	0	0.139131	0	0
HECW1	23072	broad.mit.edu	37	7	43503399	43503399	+	Splice_Site	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:43503399G>A	ENST00000395891.1	+	14	3396		c.e14+1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCCAGCTTAGGTATTGGAGGA	0.602000													61	82					0	0	0.139131	0	0
NEURL2	140825	broad.mit.edu	37	20	44519288	44519288	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr20:44519288T>C	ENST00000372518.4	-	1	638	c.343A>G	c.(343-345)Atc>Gtc	p.I115V		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	115	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGGCGCGTGATGGCGAAGACC	0.706000													46	9					0	0	0.139131	0	0
ATP2A3	489	broad.mit.edu	37	17	3854894	3854894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:3854894G>A	ENST00000309890.7	-	4	455	c.305C>T	c.(304-306)gCc>gTc	p.A102V	ATP2A3_ENST00000397043.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A102V	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	102					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCCCACAATGGCGTTGGCCAC	0.687000													10	12					0	0	0.058154	0	0
TMEM255A	55026	broad.mit.edu	37	X	119421060	119421060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chrX:119421060G>T	ENST00000371369.4	-	5	598	c.372C>A	c.(370-372)taC>taA	p.Y124*	TMEM255A_ENST00000309720.5_Nonsense_Mutation_p.Y124*|TMEM255A_ENST00000440464.1_Nonsense_Mutation_p.Y124*	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		ACCGGTTAGCGTAGAGTGGTT	0.448000													6	173					2.7689e-08	3.25467e-08	0.029380	1	0
NRAP	4892	broad.mit.edu	37	10	115384664	115384664	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr10:115384664T>A	ENST00000369358.4	-	22	2538	c.2294A>T	c.(2293-2295)cAg>cTg	p.Q765L	NRAP_ENST00000360478.3_Missense_Mutation_p.Q722L|NRAP_ENST00000359988.3_Missense_Mutation_p.Q757L|NRAP_ENST00000369360.3_Missense_Mutation_p.Q730L			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	757						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATGGACAGACTGCTCATTTCC	0.567000													39	12					0	0	0.086207	0	0
SRGAP1	57522	broad.mit.edu	37	12	64505580	64505580	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr12:64505580A>G	ENST00000355086.3	+	17	2482	c.1958A>G	c.(1957-1959)tAt>tGt	p.Y653C	SRGAP1_ENST00000357825.3_Missense_Mutation_p.Y630C|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Y590C|RP11-196H14.4_ENST00000535806.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	653	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATGGACCCTTATAACCTGGCC	0.378000													21	55					0	0	0.076483	0	0
LTBP1	4052	broad.mit.edu	37	2	33482371	33482371	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:33482371C>A	ENST00000404816.2	+	12	2541	c.2188C>A	c.(2188-2190)Cct>Act	p.P730T	LTBP1_ENST00000418533.2_Missense_Mutation_p.P404T|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000390003.4_Missense_Mutation_p.P404T|LTBP1_ENST00000407925.1_Missense_Mutation_p.P404T|LTBP1_ENST00000354476.3_Missense_Mutation_p.P730T|LTBP1_ENST00000404525.1_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	730					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGAAATCTGTCCTGGTGGAAT	0.393000													29	39					5.97227e-30	7.9236e-30	0.045705	1	0
SRSF2	6427	broad.mit.edu	37	17	74732524	74732524	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:74732524G>C	ENST00000392485.2	-	2	557	c.385C>G	c.(385-387)Cga>Gga	p.R129G	MFSD11_ENST00000588460.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.R117G|SRSF2_ENST00000359995.5_Missense_Mutation_p.R129G|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	129	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	p.R129*(1)|p.R109*(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTCCGGGATCGGCTGCGGCGA	0.711000			Mis		"""MDS, CLL"""								12	85					0	0	0.093190	0	0
APCDD1L	164284	broad.mit.edu	37	20	57045686	57045686	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr20:57045686T>G	ENST00000371149.3	-	2	397	c.167A>C	c.(166-168)aAt>aCt	p.N56T	APCDD1L_ENST00000439429.1_Missense_Mutation_p.N67T	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	56						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CCAAGGTCCATTAAGGCGTGG	0.617000													7	10					0	0	0.038147	0	0
AFF3	3899	broad.mit.edu	37	2	100368683	100368683	+	Splice_Site	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:100368683C>A	ENST00000317233.4	-	8	1237	c.1002_splice	c.e8+1	p.K334_splice	AFF3_ENST00000356421.2_Splice_Site_p.K359_splice|AFF3_ENST00000409236.1_Splice_Site_p.K334_splice|AFF3_ENST00000409579.1_Splice_Site_p.K359_splice	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	334					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AAGATCTCACCTTATTTGGAA	0.443000													20	44					8.10497e-08	9.44406e-08	0.055883	1	0
BPIFA3	128861	broad.mit.edu	37	20	31813043	31813043	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr20:31813043A>C	ENST00000375454.3	+	4	736	c.526A>C	c.(526-528)Atc>Ctc	p.I176L	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.I140L	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	176						extracellular region	lipid binding										CCATGTGGCCATCCTCACTGA	0.582000													4	141					0	0	0.009096	0	0
TECRL	253017	broad.mit.edu	37	4	65274963	65274963	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr4:65274963A>G	ENST00000381210.3	-	1	217	c.107T>C	c.(106-108)tTg>tCg	p.L36S	TECRL_ENST00000507440.1_Missense_Mutation_p.L36S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	36					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAGTTTTGACAAAAAGTGAAA	0.413000													12	40					0	0	0.105934	0	0
ZNF85	7639	broad.mit.edu	37	19	21132175	21132175	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:21132175C>A	ENST00000601023.1	+	2	1324	c.678C>A	c.(676-678)ccC>ccA	p.P226P	ZNF85_ENST00000345030.6_Silent_p.P252P|ZNF85_ENST00000328178.8_Silent_p.P285P			Q03923	ZNF85_HUMAN	zinc finger protein 85	285						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAGAAACCCTACAAATGTA	0.353000													13	15					0.00185496	0.00200455	0.105934	1	0
PKP4	8502	broad.mit.edu	37	2	159519912	159519912	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:159519912A>T	ENST00000389757.3	+	15	2657	c.2532A>T	c.(2530-2532)gaA>gaT	p.E844D	PKP4_ENST00000389759.3_Missense_Mutation_p.E844D|PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	844					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCACCTTGGAAGGCTCTGCAG	0.493000										HNSCC(62;0.18)			34	54					0	0	0.059317	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36207835	36207835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr14:36207835C>T	ENST00000258840.6	-	12	1861	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D491N			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	491					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGAACATGATCAGCAGTATTG	0.388000													5	133					0	0	0.014758	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628268	29628268	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr20:29628268A>T	ENST00000278882.3	+	6	650	c.270A>T	c.(268-270)agA>agT	p.R90S	FRG1B_ENST00000439954.2_Missense_Mutation_p.R95S|FRG1B_ENST00000358464.4_Missense_Mutation_p.R90S																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCTTTATTAGATGCAATGAAG	0.358000													3	51					0	0	0.021553	0	0
PLXNA2	5362	broad.mit.edu	37	1	208216455	208216455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:208216455C>T	ENST00000367033.3	-	21	4725	c.3968G>A	c.(3967-3969)cGa>cAa	p.R1323Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1323					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAACAGGACTCGCATAGCGTA	0.607000													29	32					0	0	0.134883	0	0
EPHB6	2051	broad.mit.edu	37	7	142568363	142568363	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:142568363G>T	ENST00000392957.2	+	19	3669	c.2882G>T	c.(2881-2883)gGa>gTa	p.G961V	EPHB6_ENST00000411471.2_Missense_Mutation_p.G684V|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.G961V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	961	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCAGCCATTGGACTGGAGTGC	0.597000													36	127					9.17885e-22	1.16035e-21	0.059317	1	0
OR8J3	81168	broad.mit.edu	37	11	55904545	55904545	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:55904545G>T	ENST00000301529.1	-	1	649	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATTGAAATAAGATACTAGAAC	0.363000													26	42					2.41591e-17	2.97002e-17	0.099896	1	0
CXorf22	170063	broad.mit.edu	37	X	35966561	35966561	+	Silent	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chrX:35966561A>G	ENST00000297866.5	+	4	714	c.648A>G	c.(646-648)gaA>gaG	p.E216E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	216										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGTAGATGAAGAGGCAATGT	0.373000													37	9					0	0	0.098360	0	0
TRHR	7201	broad.mit.edu	37	8	110099852	110099852	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr8:110099852C>A	ENST00000518632.1	+	2	462	c.111C>A	c.(109-111)ggC>ggA	p.G37G	TRHR_ENST00000311762.2_Silent_p.G37G			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	37						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTATTTGTGGCCTGGGCATTG	0.507000													38	53					3.21399e-22	4.14111e-22	0.074837	1	0
DHRS4L2	317749	broad.mit.edu	37	14	24464313	24464313	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr14:24464313A>C	ENST00000335125.6	+	3	505	c.379A>C	c.(379-381)Atg>Ctg	p.M127L	DHRS4L2_ENST00000545240.1_Missense_Mutation_p.M127L|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.M26L|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.M127L|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.M125L	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	74							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TGGAAGCCTAATGGATGTCAC	0.522000													9	686					0	0	0.069234	0	0
EP400	57634	broad.mit.edu	37	12	132491260	132491260	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr12:132491260C>T	ENST00000333577.4	+	16	3359	c.3250C>T	c.(3250-3252)Cca>Tca	p.P1084S	EP400_ENST00000330386.6_Missense_Mutation_p.P1048S|EP400_ENST00000332482.4_Missense_Mutation_p.P1011S|EP400_ENST00000389562.2_Missense_Mutation_p.P1047S|EP400_ENST00000389561.2_Missense_Mutation_p.P1048S			Q96L91	EP400_HUMAN	E1A binding protein p400	1084	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTTTAATGCTCCATCTTTGTT	0.398000													20	21					0	0	0.055883	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458669	90458669	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:90458669T>A	ENST00000603238.1	+	2	345	c.345T>A	c.(343-345)ccT>ccA	p.115_115insP																								ACAGTACCCCTCCCACAGCGT	0.517000													33	610					0	0	0.059317	0	0
ADCK4	79934	broad.mit.edu	37	19	41206235	41206235	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:41206235T>G	ENST00000324464.3	-	11	1316	c.1015A>C	c.(1015-1017)Agc>Cgc	p.S339R	ADCK4_ENST00000450541.1_Missense_Mutation_p.S298R|ADCK4_ENST00000243583.6_Missense_Mutation_p.S298R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	339	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AGGTCCTGGCTTAGGCCCTGG	0.672000													17	47					0	0	0.146539	0	0
FAM102B	284611	broad.mit.edu	37	1	109170788	109170788	+	Splice_Site	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:109170788G>C	ENST00000370035.3	+	7	896		c.e7-1		FAM102B_ENST00000405454.1_Splice_Site	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B											autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		ACATATTACAGATCTTTCAGC	0.378000													25	10					0	0	0.091800	0	0
ADCK3	56997	broad.mit.edu	37	1	227152980	227152993	+	Frame_Shift_Del	DEL	TTCTCTGCCATGGG	TTCTCTGCCATGGG	-	rs147812454		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:227152980_227152993delTTCTCTGCCATGGG	ENST00000366779.1	+	8	3228_3241	c.457_470delTTCTCTGCCATGGG	c.(457-471)cfs	p.FSAMG153fs	ADCK3_ENST00000366778.1_Frame_Shift_Del_p.FSAMG101fs|ADCK3_ENST00000366776.1_Frame_Shift_Del_p.FSAMG78fs|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Frame_Shift_Del_p.FSAMG153fs|ADCK3_ENST00000366775.1_Start_Codon_Del|ADCK3_ENST00000458507.2_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	153					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	p.G157D(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CAGAGACTCATTCTCTGCCATGGGCTTTCAGCGA	0.636													9	40	---	---	---	---					
NUP133	55746	broad.mit.edu	37	1	229625736	229625736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:229625736delG	ENST00000261396.3	-	9	1251	c.1160delC	c.(1159-1161)atfs	p.T387fs	NUP133_ENST00000366679.1_Frame_Shift_Del_p.T387fs|NUP133_ENST00000537506.1_Frame_Shift_Del_p.T371fs	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	387					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GACTTCTACAGTAACTGCATC	0.348													15	24	---	---	---	---					
ZFP36L2	678	broad.mit.edu	37	2	43452544	43452545	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:43452544_43452545insT	ENST00000282388.3	-	2	691_692	c.398_399insA	c.(397-399)cctfs	p.P133fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	133					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGTGCAGGAGGTGCTGGCTGCG	0.658													20	27	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400639	195400641	+	RNA	DEL	GTG	GTG	-	rs145880653		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284																											AGGTGGGCTTGTGGAGGAATGGG	0.552													2	4	---	---	---	---					
SCAMP1	9522	broad.mit.edu	37	5	77714718	77714718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:77714718delT	ENST00000538629.1	+	5	620	c.463delT	c.(463-465)tgfs	p.L155fs	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	155					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TATGTACTACTTGTGGATGTG	0.338													9	8	---	---	---	---					
APC	324	broad.mit.edu	37	5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:112175951_112175952insA	ENST00000457016.1	+	16	5040_5041	c.4660_4661insA	c.(4660-4662)aaafs	p.K1554fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.K1554fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Ins_p.K1554fs			P25054	APC_HUMAN	adenomatous polyposis coli	1554	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.T1556fs*3(42)|p.E1554fs*5(2)|p.E1554fs*3(1)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAGAGGCAGAAAAAACTATT	0.342		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			33	14	---	---	---	---					
DOCK2	1794	broad.mit.edu	37	5	169472903	169472904	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:169472903_169472904insA	ENST00000256935.8	+	39	4040_4041	c.3960_3961insA	c.(3958-3963)caacctfs	p.P1321fs	DOCK2_ENST00000540750.1_Frame_Shift_Ins_p.P382fs|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Ins_p.P813fs	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1321	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.N1321fs*10(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCTCAGCCAGAACCTGGTAAG	0.584													20	59	---	---	---	---					
GOLGA6L4	643707	broad.mit.edu	37	15	82934841	82934841	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:82934841delC	ENST00000559949.1	-	6	798	c.739delG	c.(739-741)agfs	p.E248fs	RP13-996F3.5_ENST00000560844.1_5'UTR																NS(1)	1						AGCCTCTCCTCCTGTTCACGT	0.557													2	4	---	---	---	---					
SCNN1B	6338	broad.mit.edu	37	16	23391989	23391989	+	Frame_Shift_Del	DEL	G	G	-	rs140945152		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:23391989delG	ENST00000343070.2	+	13	1966	c.1790delG	c.(1789-1791)ccfs	p.R597fs	SCNN1B_ENST00000307331.5_Frame_Shift_Del_p.R642fs|SCNN1B_ENST00000568923.1_Frame_Shift_Del_p.R570fs|SCNN1B_ENST00000568085.1_Frame_Shift_Del_p.R561fs	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	597			R -> H.		excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACGGCCCCCCGCAGCCCCAAC	0.711													23	40	---	---	---	---					
LAT	27040	broad.mit.edu	37	16	29000849	29000849	+	Splice_Site	DEL	G	G	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:29000849delG	ENST00000395456.2	+	9	817	c.493_splice	c.e9-1	p.M165_splice	RP11-264B17.5_ENST00000561471.1_RNA|LAT_ENST00000564277.1_Splice_Site_p.M164_splice|LAT_ENST00000454369.2_Splice_Site_p.M164_splice|LAT_ENST00000395461.3_Splice_Site_p.M201_splice|LAT_ENST00000360872.5_Splice_Site_p.M194_splice|LAT_ENST00000354453.4_Splice_Site_p.M184_splice|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_Splice_Site_p.M193_splice	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	194					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				TTTCCACAGTGGAGTCCATTG	0.622													39	54	---	---	---	---					
HP	3240	broad.mit.edu	37	16	72094177	72094178	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:72094177_72094178delTC	ENST00000355906.5	+	7	667_668	c.609_610delTC	c.(607-612)aatcfs	p.NL203fs	HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Frame_Shift_Del_p.NL144fs|HP_ENST00000570083.1_Frame_Shift_Del_p.NL144fs|HP_ENST00000398131.2_Frame_Shift_Del_p.NL144fs|HP_ENST00000562526.1_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	203	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CGGCTAAAAATCTCTTCCTGAA	0.465													43	16	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44248899	44248899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:44248899delC	ENST00000262419.6	-	2	1081	c.611delG	c.(610-612)gtfs	p.G204fs	KANSL1_ENST00000574590.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.G204fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	204						MLL1 complex	protein binding										ATTGGTCATACCCCCCTTCAA	0.458													53	266	---	---	---	---					
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58090681	58090681	+	RNA	DEL	T	T	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:58090681delT	ENST00000407042.3	-	0	609																											CTCTGAATGATTTTTTTTTTT	0.458													3	5	---	---	---	---					
ADCYAP1	116	broad.mit.edu	37	18	909477	909478	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:909477_909478delCG	ENST00000579794.1	+	4	650_651	c.372_373delCG	c.(370-375)gacgfs	p.DA124fs	ADCYAP1_ENST00000450565.3_Frame_Shift_Del_p.DA124fs	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	124					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGGGGACGACGCGGAGCCGCT	0.668													67	93	---	---	---	---					
ABHD3	171586	broad.mit.edu	37	18	19239184	19239191	+	Frame_Shift_Del	DEL	GTTCAGTG	GTTCAGTG	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:19239184_19239191delGTTCAGTG	ENST00000578270.1	-	5	1137_1144	c.197_204delCACTGAAC	c.(196-204)cfs	p.PLN66fs	ABHD3_ENST00000289119.2_Frame_Shift_Del_p.PLN261fs|ABHD3_ENST00000580981.1_Frame_Shift_Del_p.PLN208fs			Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	261						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						AAAGTAGCCAGTTCAGTGGTTTTTCCAA	0.447													24	92	---	---	---	---					
SETBP1	26040	broad.mit.edu	37	18	42643322	42643322	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:42643322delA	ENST00000282030.5	+	6	4746	c.4450delA	c.(4450-4452)aafs	p.K1484fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1484						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCTGCCCAGCAAAAGAGGCCA	0.637									Schinzel-Giedion syndrome				2	4	---	---	---	---					
ZNF492	57615	broad.mit.edu	37	19	22836811	22836811	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:22836811delC	ENST00000456783.2	+	3	368	c.124delC	c.(124-126)ccfs	p.P43fs		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGTAGCTGAACCCCCAGGTAG	0.413													67	62	---	---	---	---					
ZNF404	342908	broad.mit.edu	37	19	44377859	44377881	+	Frame_Shift_Del	DEL	TACAAATGCTTTTCCACATTCAT	TACAAATGCTTTTCCACATTCAT	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:44377859_44377881delTACAAATGCTTTTCCACATTCAT	ENST00000587539.1	-	3	484_506	c.485_507delATGAATGTGGAAAAGCATTTGTA	c.(484-507)afs	p.NECGKAFV162fs	ZNF404_ENST00000324394.6_Frame_Shift_Del_p.NECGKAFV160fs	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GCTGGAAAACTACAAATGCTTTTCCACATTCATTACATTCATA	0.350													22	54	---	---	---	---					
LILRA6	79168	broad.mit.edu	37	19	54746172	54746173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:54746172_54746173insT	ENST00000440558.2	-	3	132_133	c.84_85insA	c.(82-87)aaccacfs	p.NH28fs	LILRB3_ENST00000407860.2_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000245621.5_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000396365.2_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000391735.3_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000419410.2_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000270464.5_Frame_Shift_Ins_p.NH28fs					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGAGGGTGGGTTTGGGGAAGG	0.619													23	55	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	RNA	INS	-	-	TT	rs57730437		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:121137698_121137699insTT	ENST00000437515.1	-	0	329																											CTACTTACATCTTTTTGTCTTT	0.441													11	38	---	---	---	---					
ADCK3	56997	broad.mit.edu	37	1	227152980	227152993	+	Frame_Shift_Del	DEL	TTCTCTGCCATGGG	TTCTCTGCCATGGG	-	rs147812454		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:227152980_227152993delTTCTCTGCCATGGG	ENST00000366779.1	+	8	3228_3241	c.457_470delTTCTCTGCCATGGG	c.(457-471)cfs	p.FSAMG153fs	ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366777.3_Frame_Shift_Del_p.FSAMG153fs|ADCK3_ENST00000366776.1_Frame_Shift_Del_p.FSAMG78fs|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366778.1_Frame_Shift_Del_p.FSAMG101fs|ADCK3_ENST00000366775.1_Start_Codon_Del			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	153					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	p.G157D(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CAGAGACTCATTCTCTGCCATGGGCTTTCAGCGA	0.636													9	40	---	---	---	---					
NUP133	55746	broad.mit.edu	37	1	229625736	229625736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:229625736delG	ENST00000261396.3	-	9	1251	c.1160delC	c.(1159-1161)atfs	p.T387fs	NUP133_ENST00000366679.1_Frame_Shift_Del_p.T387fs|NUP133_ENST00000537506.1_Frame_Shift_Del_p.T371fs	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	387					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GACTTCTACAGTAACTGCATC	0.348													15	24	---	---	---	---					
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400639	195400641	+	RNA	DEL	GTG	GTG	-	rs145880653		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284																											AGGTGGGCTTGTGGAGGAATGGG	0.552													2	4	---	---	---	---					
SCAMP1	9522	broad.mit.edu	37	5	77714718	77714718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr5:77714718delT	ENST00000538629.1	+	5	620	c.463delT	c.(463-465)tgfs	p.L155fs	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	155					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TATGTACTACTTGTGGATGTG	0.338													9	8	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086381	20086382	+	RNA	INS	-	-	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr14:20086381_20086382insT	ENST00000548261.1	+	0	135																											GTCTTACAAGGTAAAAAAAATG	0.312													3	3	---	---	---	---					
SCNN1B	6338	broad.mit.edu	37	16	23391989	23391989	+	Frame_Shift_Del	DEL	G	G	-	rs140945152		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr16:23391989delG	ENST00000343070.2	+	13	1966	c.1790delG	c.(1789-1791)ccfs	p.R597fs	SCNN1B_ENST00000307331.5_Frame_Shift_Del_p.R642fs|SCNN1B_ENST00000568923.1_Frame_Shift_Del_p.R570fs|SCNN1B_ENST00000568085.1_Frame_Shift_Del_p.R561fs	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	597			R -> H.		excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACGGCCCCCCGCAGCCCCAAC	0.711													23	40	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44248899	44248899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:44248899delC	ENST00000262419.6	-	2	1081	c.611delG	c.(610-612)gtfs	p.G204fs	KANSL1_ENST00000432791.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.G204fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	204						MLL1 complex	protein binding										ATTGGTCATACCCCCCTTCAA	0.458													53	266	---	---	---	---					
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chrY:10037863delC	ENST00000515896.1	+	0	100																											ATCGACACTTCGAACGCACTT	0.552													5	10	---	---	---	---					
