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
LOC649330	649330	broad.mit.edu	37	1	12908039	12908039	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:12908039G>A	uc010obf.2	-	1	330	c.104C>T	c.(103-105)gCg>gTg	p.A35V	LOC649330_uc009vno.2_Missense_Mutation_p.A35V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	35							nucleic acid binding|nucleotide binding										GGAAAAGATCGCCTCCACATC	0.473												
MST1P9	11223	broad.mit.edu	37	1	17084548	17084549	+	Frame_Shift_Ins	INS	-	-	CCAA			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:17084548_17084549insCCAA	uc010ock.2	-	11	1549_1550	c.1549_1550insTTGG	c.(1549-1551)ggcfs	p.G517fs	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Frame_Shift_Ins_p.G117fs					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GAACAGGGTGCCCAACCATACC	0.579												
CSMD2	114784	broad.mit.edu	37	1	34123559	34123559	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:34123559C>T	uc001bxm.1	-	26	4611	c.4434G>A	c.(4432-4434)ccG>ccA	p.P1478P	CSMD2_uc001bxn.1_Silent_p.P1438P|CSMD2_uc001bxo.1_Silent_p.P351P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1438	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCATGTTGGCGGGCTGGGCT	0.572												
TIE1	7075	broad.mit.edu	37	1	43774798	43774798	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:43774798T>A	uc001ciu.3	+	7	1361	c.1184T>A	c.(1183-1185)cTc>cAc	p.L395H	TIE1_uc010okd.2_Missense_Mutation_p.L395H|TIE1_uc010oke.2_Missense_Mutation_p.L350H|TIE1_uc009vwq.3_Missense_Mutation_p.L351H|TIE1_uc010okf.1_Missense_Mutation_p.L40H|TIE1_uc010okg.2_Missense_Mutation_p.L40H|TIE1_uc010okc.2_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	395	Ig-like C2-type 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCACTGTGCTCCTGGTCAGC	0.617												
C8A	731	broad.mit.edu	37	1	57341829	57341829	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:57341829C>T	uc001cyo.2	+	3	543	c.411C>T	c.(409-411)gaC>gaT	p.D137D		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	137	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGGCCATTGACGAAGACTGCA	0.532												
FLG	2312	broad.mit.edu	37	1	152275685	152275685	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:152275685C>A	uc001ezu.1	-	2	11713	c.11677G>T	c.(11677-11679)Gag>Tag	p.E3893*		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3893	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R3892L(1)|p.R3892Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGACTGCTCCCGAGAAGAT	0.537									Ichthyosis			
CD1D	912	broad.mit.edu	37	1	158153826	158153826	+	Splice_Site	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:158153826G>A	uc001frr.3	+	6	1485	c.986_splice	c.e6+1	p.T329_splice	CD1D_uc009wss.3_Splice_Site_p.T236_splice	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	329					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGAGGCAAACGTAAGTCTCCC	0.512												
SH3BP5L	80851	broad.mit.edu	37	1	249106332	249106332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:249106332C>A	uc001iew.1	-	6	1501	c.949G>T	c.(949-951)Gag>Tag	p.E317*	SH3BP5L_uc010pzp.1_Nonsense_Mutation_p.E210*|SH3BP5L_uc001iev.1_Nonsense_Mutation_p.E198*	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	317										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTGCCCTCCTCCAGCCCCGCA	0.731												
AGAP7	653268	broad.mit.edu	37	10	51465417	51465417	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr10:51465417C>T	uc001jio.3	-	6	1165	c.1039G>A	c.(1039-1041)Ggg>Agg	p.G347R	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	347	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G347W(2)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCACCCAGCCCGGTGTCCATG	0.552												
HPSE2	60495	broad.mit.edu	37	10	100249842	100249842	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr10:100249842G>A	uc001kpn.2	-	9	1505	c.1432C>T	c.(1432-1434)Cta>Tta	p.L478L	HPSE2_uc009xwc.2_Silent_p.L478L|HPSE2_uc001kpo.2_Silent_p.L420L|HPSE2_uc009xwd.2_Silent_p.L366L	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	478					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TAAATCCTTAGTTTGTCCCGG	0.577												
AP2A2	161	broad.mit.edu	37	11	926039	926039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:926039delG	uc001lst.2	+	0	231	c.18delG	c.(16-18)aagfs	p.K6fs	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Frame_Shift_Del_p.K6fs	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	6	Lipid-binding.				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCGTGTCCAAGGGGGACGGGA	0.771												
MUC6	4588	broad.mit.edu	37	11	1025025	1025025	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:1025025G>A	uc001lsw.2	-	23	3095	c.3044C>T	c.(3043-3045)aCg>aTg	p.T1015M		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1015	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGCTGCGCGTCTCGAAGTC	0.637												
NAV2	89797	broad.mit.edu	37	11	19955730	19955730	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:19955730C>T	uc010rdm.2	+	7	2370	c.2009C>T	c.(2008-2010)aCc>aTc	p.T670I	NAV2_uc001mpp.3_Missense_Mutation_p.T583I|NAV2_uc001mpr.4_Missense_Mutation_p.T647I|NAV2_uc021qew.1_Missense_Mutation_p.T647I	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	670						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCACCCAGACCACAGGAAGC	0.582												
CHRDL2	25884	broad.mit.edu	37	11	74429781	74429781	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:74429781C>T	uc001ovh.3	-	1	432	c.179G>A	c.(178-180)cGc>cAc	p.R60H	CHRDL2_uc001ovg.3_5'UTR|CHRDL2_uc001ovi.3_Missense_Mutation_p.R60H|CHRDL2_uc001ovk.1_Missense_Mutation_p.R60H	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	60	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GCAGGTACAGCGCAGGCAGTA	0.597												
PIK3C2G	5288	broad.mit.edu	37	12	18658397	18658397	+	Splice_Site	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:18658397T>C	uc001rdt.3	+	23	3316	c.3200_splice	c.e23+2	p.R1067_splice	PIK3C2G_uc010sia.2_Splice_Site|PIK3C2G_uc010sib.2_Splice_Site_p.R1108_splice|PIK3C2G_uc010sic.2_Splice_Site_p.R886_splice	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1067	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GATAAAAAGGTCAGTGCACAA	0.368												
KRT6B	3854	broad.mit.edu	37	12	52841112	52841112	+	Silent	SNP	A	A	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:52841112A>G	uc001sak.3	-	8	1605	c.1557T>C	c.(1555-1557)agT>agC	p.S519S		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	519	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CGCCAAGACCACTGCCATAGG	0.622												
GPR182	11318	broad.mit.edu	37	12	57389618	57389618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:57389618G>T	uc021qzf.1	+	0	625	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	GPR182_uc001smk.3_Nonsense_Mutation_p.E209*	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	209						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GGCACCTTTTGAAACGTACAG	0.617												
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:57485446T>C	uc001smz.3	+	1	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	208					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.F208L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716												
RASSF9	9182	broad.mit.edu	37	12	86199112	86199112	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:86199112C>G	uc001taf.1	-	1	1015	c.676G>C	c.(676-678)Gat>Cat	p.D226H		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	226					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTTCTCCATCATTTTCTACT	0.398												
NR2C1	7181	broad.mit.edu	37	12	95445680	95445680	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:95445680C>A	uc001tdm.4	-	7	1079	c.823G>T	c.(823-825)Gtg>Ttg	p.V275L	NR2C1_uc010suu.1_Missense_Mutation_p.V275L|NR2C1_uc001tdn.4_Missense_Mutation_p.V275L|NR2C1_uc001tdo.4_Missense_Mutation_p.V275L	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	275					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GATGTAACCACATTGGCCAAT	0.303												
NOS1	4842	broad.mit.edu	37	12	117710328	117710328	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:117710328G>A	uc001twn.2	-	9	2412	c.1701C>T	c.(1699-1701)taC>taT	p.Y567Y	NOS1_uc021ren.1_Silent_p.Y231Y|NOS1_uc021reo.1_Silent_p.Y231Y|NOS1_uc001twm.2_Silent_p.Y567Y	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	567					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGGGGAGGCCGTACCACTTCA	0.612												
HCAR3	8843	broad.mit.edu	37	12	123200222	123200222	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:123200222G>A	uc001ucy.4	-	0	1218	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	355						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	AGATAAGAGGGGCTCCATGGC	0.537												
EML5	161436	broad.mit.edu	37	14	89130847	89130847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr14:89130847C>T	uc021ryf.1	-	22	3648	c.3399G>A	c.(3397-3399)tgG>tgA	p.W1133*	EML5_uc001xxf.3_5'UTR|EML5_uc021ryg.1_Nonsense_Mutation_p.W1133*|EML5_uc001xxh.1_Nonsense_Mutation_p.W272*	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1133						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTCTAATATCCCAATCAATAT	0.308												
HS3ST4	9951	broad.mit.edu	37	16	26147153	26147153	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr16:26147153C>T	uc002dof.3	+	1	1347	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	319					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CTTCAAAAACCGGACCCTCGG	0.552												
ZNF48	197407	broad.mit.edu	37	16	30409831	30409831	+	Silent	SNP	G	G	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr16:30409831G>C	uc002dya.2	+	1	1636	c.1260G>C	c.(1258-1260)tcG>tcC	p.S420S	ZNF48_uc021tgi.1_Silent_p.S420S|ZNF48_uc021tgj.1_Silent_p.S297S|ZNF48_uc021tgk.1_Silent_p.S420S	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	420	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S420S(2)|p.S420L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CCTCACACTCGGGTGAGCCTT	0.692												
SHPK	23729	broad.mit.edu	37	17	3524530	3524530	+	Splice_Site	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:3524530C>T	uc002fvz.1	-	5	926	c.823_splice	c.e5+1	p.V275_splice		NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	Homo sapiens sedoheptulokinase (SHPK), mRNA.	275					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GAAAAACTTACCTGCATCTGT	0.522												
ACACA	31	broad.mit.edu	37	17	35631152	35631152	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:35631152G>A	uc002hnm.3	-	8	1020	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C	ACACA_uc002hnk.3_Missense_Mutation_p.R199C|ACACA_uc002hnl.3_Missense_Mutation_p.R219C|ACACA_uc002hnn.3_Missense_Mutation_p.R277C|ACACA_uc002hno.3_Missense_Mutation_p.R314C|ACACA_uc010cuz.3_Missense_Mutation_p.R277C|ACACA_uc002hnq.2_Missense_Mutation_p.R199C	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	277	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTAAGATACGTTTTGAAAAA	0.408												
AOC2	314	broad.mit.edu	37	17	40997352	40997352	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:40997352G>A	uc002ibu.3	+	0	744	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	AOC2_uc002ibt.3_Missense_Mutation_p.V237M	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	237					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCTTCACCCCGTGGGGCTGGA	0.612												
MYO5B	4645	broad.mit.edu	37	18	47463738	47463738	+	Silent	SNP	A	A	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr18:47463738A>G	uc002leb.2	-	14	2070	c.1782T>C	c.(1780-1782)gaT>gaC	p.D594D	MYO5B_uc021ukb.1_Silent_p.D593D	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	594	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGTCCTTGTCATCATGAAACA	0.507												
MIDN	90007	broad.mit.edu	37	19	1257154	1257154	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:1257154T>G	uc002lrp.3	+	7	1805	c.1290T>G	c.(1288-1290)agT>agG	p.S430R		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	430						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GCGACAGCAGTAGCAGCGGGG	0.682												
ZNF492	57615	broad.mit.edu	37	19	22846866	22846866	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:22846866C>T	uc002nqw.3	+	3	639	c.395C>T	c.(394-396)aCg>aTg	p.T132M		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	132					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)				AACAGACATACGATAAGACAT	0.308												
PAK4	10298	broad.mit.edu	37	19	39660357	39660357	+	Missense_Mutation	SNP	A	A	C	rs112229040		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:39660357A>C	uc002okj.1	+	3	625	c.164A>C	c.(163-165)gAc>gCc	p.D55A	PAK4_uc002okl.1_Missense_Mutation_p.D55A|PAK4_uc002okn.1_Missense_Mutation_p.D55A|PAK4_uc002okm.1_Missense_Mutation_p.D55A|PAK4_uc002oko.1_Missense_Mutation_p.D55A|PAK4_uc002okp.1_Missense_Mutation_p.D55A	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	55	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D55A(4)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCCCTCGTCGACCCCGCCTGC	0.716												
LTBP4	8425	broad.mit.edu	37	19	41129963	41129963	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:41129963G>C	uc002ooh.1	+	29	4006	c.4006G>C	c.(4006-4008)Gtc>Ctc	p.V1336L	LTBP4_uc002oog.1_Missense_Mutation_p.V1299L|LTBP4_uc002ooi.1_Missense_Mutation_p.V1269L|LTBP4_uc002ooj.1_Missense_Mutation_p.V210L|LTBP4_uc002ook.1_Missense_Mutation_p.V471L|LTBP4_uc002ool.1_Missense_Mutation_p.V349L|LTBP4_uc010xvp.1_Missense_Mutation_p.V97L	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1337	EGF-like 14; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGCCGCTGCGTCTCCAACGA	0.682												
SP3	6670	broad.mit.edu	37	2	174820235	174820235	+	Silent	SNP	A	A	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:174820235A>G	uc002uig.3	-	3	1536	c.1005T>C	c.(1003-1005)tcT>tcC	p.S335S	SP3_uc002uie.3_Silent_p.S267S|SP3_uc002uif.3_Silent_p.S282S|SP3_uc010zel.2_Silent_p.S332S	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	335					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACTGTGATGAAGAGGATGTTG	0.378												
GPR1	2825	broad.mit.edu	37	2	207041266	207041266	+	Nonsense_Mutation	SNP	G	G	A	rs34685097		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:207041266G>A	uc021vvl.1	-	0	706	c.706C>T	c.(706-708)Cga>Tga	p.R236*	GPR1_uc002vbl.4_Nonsense_Mutation_p.R236*|GPR1_uc010fue.3_Nonsense_Mutation_p.R236*|GPR1_uc010fuf.3_Nonsense_Mutation_p.R236*	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	236						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AGGATGCTTCGCTTCTTCACC	0.438												
COPS7B	64708	broad.mit.edu	37	2	232653347	232653347	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:232653347A>T	uc002vsh.1	+	1	170	c.67A>T	c.(67-69)Agt>Tgt	p.S23C	COPS7B_uc010fxy.1_Intron|COPS7B_uc002vsg.1_Missense_Mutation_p.S23C|COPS7B_uc002vsi.1_5'UTR|COPS7B_uc002vsj.1_5'Flank			Q9H9Q2	CSN7B_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.	23					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAAAGGTACCAGTGGCTCAGC	0.493												
TGM3	7053	broad.mit.edu	37	20	2298127	2298127	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:2298127G>A	uc002wfx.4	+	6	1076	c.979G>A	c.(979-981)Gta>Ata	p.V327I		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	327					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TAGTGATAGCGTATGGTAAGT	0.507												
CRNKL1	51340	broad.mit.edu	37	20	20033098	20033098	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:20033098C>T	uc002wrs.3	-	1	404	c.372G>A	c.(370-372)ccG>ccA	p.P124P	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Silent_p.P112P	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	124					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ATCTCGGAACCGGAAGCGGAA	0.592												
CD93	22918	broad.mit.edu	37	20	23065129	23065129	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:23065129G>A	uc002wsv.3	-	0	1849	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	567					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGTGGCCACGGAGGAGTCCC	0.637												
BPIFB2	80341	broad.mit.edu	37	20	31596448	31596448	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:31596448C>T	uc002wyj.3	+	1	262	c.68C>T	c.(67-69)cCa>cTa	p.P23L		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	23						extracellular region	lipid binding										GCCTCCACGCCAGGCACCGTG	0.622												
PREX1	57580	broad.mit.edu	37	20	47262489	47262489	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:47262489T>C	uc002xtw.1	-	25	3435	c.3412A>G	c.(3412-3414)Agg>Ggg	p.R1138G	PREX1_uc002xtv.1_Missense_Mutation_p.R435G	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1138					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGTCACTCCTGTCCATCTCG	0.617												
PRIC285	85441	broad.mit.edu	37	20	62197056	62197056	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:62197056G>A	uc002yfm.2	-	8	4011	c.3119C>T	c.(3118-3120)gCg>gTg	p.A1040V	PRIC285_uc002yfl.1_Missense_Mutation_p.A471V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1040	Ala-rich.				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGCTCCTGCCGCACAGGCCCC	0.687												
IL17RA	23765	broad.mit.edu	37	22	17586805	17586805	+	Missense_Mutation	SNP	G	G	A	rs138404135		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:17586805G>A	uc002zly.3	+	10	1137	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	336					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGTGGGCTCCGTCATCCTGCT	0.607												
MYO18B	84700	broad.mit.edu	37	22	26159232	26159232	+	Missense_Mutation	SNP	C	C	T	rs79294358	by1000genomes	TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:26159232C>T	uc003abz.1	+	2	324	c.74C>T	c.(73-75)tCg>tTg	p.S25L	MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	25						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACCATCCTCGCCCCCTCCT	0.542												
FAM109B	150368	broad.mit.edu	37	22	42473575	42473575	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:42473575C>G	uc003bbz.3	+	2	465	c.278C>G	c.(277-279)gCc>gGc	p.A93G	FAM109B_uc021wqi.1_Missense_Mutation_p.A93G|C22orf32_uc003bca.3_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	Homo sapiens family with sequence similarity 109, member B (FAM109B), mRNA.	93	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						TGCTTTGATGCCCCTGGAGTG	0.682												
CNTN6	27255	broad.mit.edu	37	3	1339608	1339608	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:1339608C>T	uc003boz.3	+	6	961	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	CNTN6_uc010hbo.2_Missense_Mutation_p.R227C|CNTN6_uc011asj.2_Missense_Mutation_p.R160C|CNTN6_uc003bpa.3_Missense_Mutation_p.R232C	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	232	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GATTGAAGTGCGTTTTCCTGA	0.358												
FBLN2	2199	broad.mit.edu	37	3	13613045	13613045	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:13613045C>A	uc011avc.2	+	1	1572	c.1190C>A	c.(1189-1191)gCc>gAc	p.A397D	FBLN2_uc011auz.2_Missense_Mutation_p.A423D|FBLN2_uc011avb.2_Missense_Mutation_p.A397D|FBLN2_uc011ava.2_Missense_Mutation_p.A397D	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	397	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCTGATGCAGCCTGGATCCCA	0.622												
TRH	7200	broad.mit.edu	37	3	129696024	129696024	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:129696024C>T	uc003enc.3	+	2	1255	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	232					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCCTGGTCGGCGGGCAGCCTG	0.622												
HLTF	6596	broad.mit.edu	37	3	148768105	148768105	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:148768105C>T	uc003ewq.1	-	14	1749	c.1531G>A	c.(1531-1533)Ggt>Agt	p.G511S	HLTF_uc003ewr.1_Missense_Mutation_p.G511S|HLTF_uc003ews.1_Missense_Mutation_p.G510S|HLTF_uc010hve.1_Missense_Mutation_p.G510S	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	511	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CGATCAGGACCATAATAAACA	0.299												
ASIC5	51802	broad.mit.edu	37	4	156764907	156764907	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr4:156764907C>A	uc003ipe.1	-	4	834	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	263						integral to membrane|plasma membrane											AACTGTGGCACCTTCTTTGGT	0.453												
TAS2R1	50834	broad.mit.edu	37	5	9629468	9629468	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:9629468G>A	uc003jem.1	-	0	996	c.677C>T	c.(676-678)gCg>gTg	p.A226V		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	226					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.A226S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGACAGCAACGCGCTGATGGG	0.498												
ITGA2	3673	broad.mit.edu	37	5	52344242	52344242	+	Missense_Mutation	SNP	C	C	T	rs148042733		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:52344242C>T	uc003joy.3	+	4	580	c.437C>T	c.(436-438)aCg>aTg	p.T146M	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.T70M|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	146					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TATTACACAACGGGTGTGTGT	0.438												
ACTBL2	345651	broad.mit.edu	37	5	56778423	56778423	+	Missense_Mutation	SNP	G	G	A	rs78342986	byFrequency	TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:56778423G>A	uc003jrm.3	-	0	214	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	38						cytoplasm|cytoskeleton	ATP binding	p.R38C(4)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TGTCGAGGACGCCCTATCATG	0.592												
RGNEF	64283	broad.mit.edu	37	5	73148496	73148496	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:73148496C>T	uc010izf.3	+	13	1945	c.1769C>T	c.(1768-1770)tCg>tTg	p.S590L	RGNEF_uc011csq.2_Missense_Mutation_p.S590L|RGNEF_uc003kcy.1_3'UTR|RGNEF_uc021yam.1_Missense_Mutation_p.S590L|RGNEF_uc011csr.2_Missense_Mutation_p.S277L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	590					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TACAGCTTATCGGAGCCACCA	0.378												
SLC27A6	28965	broad.mit.edu	37	5	128368954	128368954	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:128368954G>T	uc003kuy.3	+	10	2235	c.1839G>T	c.(1837-1839)atG>atT	p.M613I	SLC27A6_uc003kuz.3_Missense_Mutation_p.M613I	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	613					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATCAAATAATGTTAGGGGAAA	0.318												
HLA-DOA	3111	broad.mit.edu	37	6	32975124	32975124	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:32975124G>A	uc003ocr.3	-	2	653	c.577C>T	c.(577-579)Cac>Tac	p.H193Y	HLA-DOA_uc010juj.3_Missense_Mutation_p.H163Y|HLA-DOA_uc010jui.3_Missense_Mutation_p.H193Y	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	193	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.H193Q(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGGCCCCAGTGCTCCACCTGG	0.597												
VPS52	6293	broad.mit.edu	37	6	33238055	33238055	+	Silent	SNP	A	A	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:33238055A>C	uc003odm.1	-	1	306	c.96T>G	c.(94-96)ggT>ggG	p.G32G	VPS52_uc003odn.1_5'UTR|VPS52_uc003odo.1_5'UTR|VPS52_uc011dqy.1_5'UTR|VPS52_uc011dqz.1_5'UTR|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	32					protein transport	endosome membrane|Golgi apparatus		p.A31A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GCCCAGGACCACCCGCCTGGA	0.483												
TBX18	9096	broad.mit.edu	37	6	85446874	85446874	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:85446874C>T	uc003pkl.1	-	7	1353	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	451					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GAGTCCTGGGCGGGGCAAAGG	0.612												
TPD52L1	7164	broad.mit.edu	37	6	125541243	125541243	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:125541243G>A	uc003pzu.1	+	1	258	c.39G>A	c.(37-39)ccG>ccA	p.P13P	TPD52L1_uc003pzv.1_Silent_p.P13P|TPD52L1_uc003pzw.1_Silent_p.P13P|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.	13					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		AGACTGAACCGTTGCAAGGAA	0.413												
SYNJ2	8871	broad.mit.edu	37	6	158454502	158454502	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:158454502C>T	uc003qqx.2	+	3	607	c.501C>T	c.(499-501)caC>caT	p.H167H	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Silent_p.H167H|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_Silent_p.H116H|SYNJ2_uc010kjo.1_Silent_p.H116H	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	167	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGCTGTTGCACGTGCCCTTGA	0.572												
SYNJ2	8871	broad.mit.edu	37	6	158483049	158483049	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:158483049C>T	uc003qqx.2	+	7	1086	c.980C>T	c.(979-981)gCg>gTg	p.A327V	SYNJ2_uc011efm.2_Intron|SYNJ2_uc003qqw.2_Missense_Mutation_p.A327V|SYNJ2_uc003qqy.2_Missense_Mutation_p.A90V|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Missense_Mutation_p.A276V|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	327	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.A327V(2)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTTGCCACGCGGGCGACACG	0.562												
AGPAT4	56895	broad.mit.edu	37	6	161587289	161587289	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:161587289C>T	uc003qtr.1	-	2	566	c.339G>A	c.(337-339)ggG>ggA	p.G113G	AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Silent_p.G113G|AGPAT4_uc011egd.1_Silent_p.G51G|AGPAT4_uc011ege.1_Intron	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	113					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCCCTAACAGCCCAAAGCGTT	0.507												
TYW1	55253	broad.mit.edu	37	7	66532361	66532361	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:66532361G>A	uc003tvn.3	+	9	1394	c.1245G>A	c.(1243-1245)gcG>gcA	p.A415A	TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Silent_p.A29A	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	415					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CGAGCTTGGCGTGTGCTAATA	0.458												
NYAP1	222950	broad.mit.edu	37	7	100086489	100086489	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:100086489C>T	uc003uvd.1	+	3	1304	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M	NYAP1_uc003uve.1_Missense_Mutation_p.T164M	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	382	Pro-rich.																GAGCGGGAGACGCCTCCCCCA	0.706												
RELN	5649	broad.mit.edu	37	7	103341383	103341383	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:103341383C>T	uc022ajr.1	-	8	1036	c.876G>A	c.(874-876)gcG>gcA	p.A292A	RELN_uc022ajq.1_Silent_p.A292A|RELN_uc010liz.3_Silent_p.A292A	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	292					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATCCAGTCCGCAGAGTTAT	0.358												
SPAM1	6677	broad.mit.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:123595133G>A	uc003vle.3	+	3	1476	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_uc011koa.1_Missense_Mutation_p.R2Q|SPAM1_uc003vld.3_Missense_Mutation_p.R346Q|SPAM1_uc022aks.1_Missense_Mutation_p.R346Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R346Q|SPAM1_uc010lku.3_Missense_Mutation_p.R346Q	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	346					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R346Q(3)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGTATAATGCGAAGTATGGTA	0.338												
CHRM2	1129	broad.mit.edu	37	7	136700700	136700700	+	Missense_Mutation	SNP	G	G	A	rs147228075		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:136700700G>A	uc003vtf.1	+	3	1711	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	CHRM2_uc003vtg.1_Missense_Mutation_p.R363H|CHRM2_uc003vti.1_Missense_Mutation_p.R363H|CHRM2_uc003vtm.1_Missense_Mutation_p.R363H|CHRM2_uc003vtj.1_Missense_Mutation_p.R363H|CHRM2_uc003vtk.1_Missense_Mutation_p.R363H|CHRM2_uc003vtl.1_Missense_Mutation_p.R363H|CHRM2_uc003vtn.1_Missense_Mutation_p.R363H|CHRM2_uc003vto.1_Missense_Mutation_p.R363H|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.R363H	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	363					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.A362A(1)|p.A362T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATTGTAGCCCGCAAGATTGTG	0.468												
EIF3E	3646	broad.mit.edu	37	8	109240547	109240547	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr8:109240547T>C	uc003ymu.3	-	6	699	c.671A>G	c.(670-672)aAt>aGt	p.N224S	EIF3E_uc003ymt.3_Missense_Mutation_p.N175S	NM_001568	NP_001559	P60228	EIF3E_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.	224					negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TTTGGGGTGATTGAAGAAAAC	0.348												
BAI1	575	broad.mit.edu	37	8	143558906	143558906	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr8:143558906C>T	uc003ywm.3	+	4	1566	c.1383C>T	c.(1381-1383)tgC>tgT	p.C461C		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	461	TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TTGCCCTGTGCCCTGGTAGGT	0.657												
METTL11A	28989	broad.mit.edu	37	9	132394975	132394975	+	Translation_Start_Site	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr9:132394975G>A	uc004byd.1	+	1					METTL11A_uc011mbs.1_5'UTR|METTL11A_uc010myw.1_Non-coding_Transcript	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	Homo sapiens methyltransferase like 11A (METTL11A), mRNA.						chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7						GCCGTGGTTGGTGACAGCATG	0.577												
TUBBP5	643224	broad.mit.edu	37	9	141070969	141070969	+	Silent	SNP	A	A	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr9:141070969A>G	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.A196A(1)									TAGAAAACGCAGATGAGACCT	0.517												
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	Silent	SNP	A	A	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr9:141071110A>G	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597												
USP51	158880	broad.mit.edu	37	X	55514642	55514642	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chrX:55514642T>C	uc022bxu.1	-	0	731	c.731A>G	c.(730-732)aAc>aGc	p.N244S	USP51_uc004dun.2_Missense_Mutation_p.N244S	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	244					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GTGGAGTCTGTTCATATGGGT	0.448												
POF1B	79983	broad.mit.edu	37	X	84562214	84562214	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chrX:84562214G>A	uc004eer.2	-	10	1265	c.1119C>T	c.(1117-1119)taC>taT	p.Y373Y	POF1B_uc004ees.3_Silent_p.Y373Y	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	373							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGAGTTCTTCGTACTCTTTTA	0.333