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
KDM1A	23028	broad.mit.edu	37	1	23376958	23376958	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:23376958T>C	ENST00000400181.4	+	4	760	c.656T>C	c.(655-657)aTt>aCt	p.I219T	KDM1A_ENST00000542151.1_Missense_Mutation_p.I219T|KDM1A_ENST00000356634.3_Missense_Mutation_p.I199T|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	199	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTTCCAGATATTATCAGTGGA	0.433													5	44	---	---	---	---
CDC7	8317	broad.mit.edu	37	1	91977213	91977213	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr1:91977213T>C	ENST00000428239.1	+	5	654	c.395T>C	c.(394-396)aTt>aCt	p.I132T	CDC7_ENST00000234626.6_Missense_Mutation_p.I132T|CDC7_ENST00000430031.2_Missense_Mutation_p.I104T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	132	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CATGTAGTTATTGCTATGCCA	0.323													5	82	---	---	---	---
APOB	338	broad.mit.edu	37	2	21249774	21249774	+	Silent	SNP	A	A	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:21249774A>G	ENST00000233242.1	-	15	2257	c.2130T>C	c.(2128-2130)ttT>ttC	p.F710F	APOB_ENST00000399256.4_Silent_p.F710F	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	710					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTCTGGGAAAAATCCTTGCT	0.423													9	42	---	---	---	---
IMP4	92856	broad.mit.edu	37	2	131103658	131103658	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:131103658C>T	ENST00000259239.3	+	7	1370	c.662C>T	c.(661-663)gCa>gTa	p.A221V	IMP4_ENST00000409935.1_Missense_Mutation_p.A221V	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	221	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					ATCACCTTCGCAAACCAGGAC	0.572													7	22	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141571318	141571318	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:141571318G>A	ENST00000389484.3	-	32	6238	c.5267C>T	c.(5266-5268)aCc>aTc	p.T1756I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1756					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)		TCTATTTATGGTTCCATTCCC	0.348										TSP Lung(27;0.18)			3	55	---	---	---	---
PER2	8864	broad.mit.edu	37	2	239157852	239157852	+	Splice_Site	SNP	T	T	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr2:239157852T>G	ENST00000254657.3	-	22	3748	c.3469A>C	c.(3469-3471)Aat>Cat	p.N1157H	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1157	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCTTCTAAATTTCTTCGCAAG	0.393													3	71	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151164494	151164494	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr3:151164494G>A	ENST00000282466.3	-	4	3274	c.3275C>T	c.(3274-3276)gCt>gTt	p.A1092V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1092					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAATGTCAGCTTTGGGGAA	0.483													10	81	---	---	---	---
PRDM5	11107	broad.mit.edu	37	4	121702371	121702371	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr4:121702371C>T	ENST00000264808.3	-	12	1610	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K	PRDM5_ENST00000428209.2_Missense_Mutation_p.R426K|PRDM5_ENST00000515109.1_Missense_Mutation_p.R426K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	457					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTCTTGTGTCTTTCATGAAC	0.393													11	41	---	---	---	---
C6	729	broad.mit.edu	37	5	41201771	41201771	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr5:41201771C>G	ENST00000263413.3	-	3	453	c.189G>C	c.(187-189)caG>caC	p.Q63H	C6_ENST00000337836.5_Missense_Mutation_p.Q63H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	63	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCTGCAAATCTGTTCACAAA	0.423													3	55	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89981695	89981695	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr5:89981695C>T	ENST00000405460.2	+	29	6469	c.6373C>T	c.(6373-6375)Cca>Tca	p.P2125S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2125					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTCTCAGCACCAATTGTCCG	0.433													3	16	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156590508	156590508	+	Silent	SNP	C	C	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr5:156590508C>G	ENST00000302938.4	-	2	863	c.768G>C	c.(766-768)ggG>ggC	p.G256G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	256	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCAGCAGCCCCTGGAGTGC	0.582													7	48	---	---	---	---
RSPO3	84870	broad.mit.edu	37	6	127471649	127471649	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr6:127471649G>A	ENST00000356698.4	+	3	957	c.368G>A	c.(367-369)gGa>gAa	p.G123E	RSPO3_ENST00000368317.3_Missense_Mutation_p.G123E|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	123						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TTACACCTTGGAAAGTGCCTT	0.373													4	51	---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122626638	122626638	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr8:122626638G>A	ENST00000303924.4	-	4	1907	c.1370C>T	c.(1369-1371)aCa>aTa	p.T457I		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	457						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTGTTTATTGTTGCAATTGC	0.428													9	216	---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32541842	32541842	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:32541842T>C	ENST00000360538.2	-	3	2797	c.2681A>G	c.(2680-2682)aAg>aGg	p.K894R	TOPORS_ENST00000379858.1_Missense_Mutation_p.K829R	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	894	Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATGGTGTttcttatgcttctt	0.373													19	94	---	---	---	---
SEMA4D	10507	broad.mit.edu	37	9	91994252	91994252	+	Silent	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:91994252G>A	ENST00000450295.1	-	16	2732	c.1956C>T	c.(1954-1956)ccC>ccT	p.P652P	SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000356444.2_Silent_p.P652P|SEMA4D_ENST00000438547.2_Silent_p.P652P|SEMA4D_ENST00000422704.2_Silent_p.P652P|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	652					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	p.P652P(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGGCCACTACGGGCTTTGGAA	0.557													8	137	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107547843	107547843	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr9:107547843C>T	ENST00000374736.3	-	49	6873	c.6479G>A	c.(6478-6480)gGa>gAa	p.G2160E		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2160					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAATGCAAGTCCAAAGAAATC	0.438													4	82	---	---	---	---
KCNC1	3746	broad.mit.edu	37	11	17793787	17793787	+	Silent	SNP	G	G	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr11:17793787G>A	ENST00000379472.3	+	2	1176	c.1146G>A	c.(1144-1146)acG>acA	p.T382T	KCNC1_ENST00000265969.6_Silent_p.T382T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	382						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T382T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GTGAGCACACGCACTTTAAGA	0.602													3	37	---	---	---	---
MTMR2	8898	broad.mit.edu	37	11	95571268	95571268	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr11:95571268C>G	ENST00000393223.3	-	15	2029	c.1367G>C	c.(1366-1368)aGa>aCa	p.R456T	MTMR2_ENST00000346299.5_Missense_Mutation_p.R528T|MTMR2_ENST00000409459.1_Missense_Mutation_p.R456T|MTMR2_ENST00000352297.7_Missense_Mutation_p.R456T	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	528	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTCTTTTCCTCTCTGTTGTTC	0.368													6	53	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518235	108518235	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr13:108518235C>T	ENST00000375915.2	-	1	848	c.710G>A	c.(709-711)gGg>gAg	p.G237E		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	237						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ACTGGACAACCCCGAGAACAA	0.537													3	49	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74385943	74385943	+	RNA	SNP	T	T	A			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr16:74385943T>A	ENST00000429810.2	-	0	809																											CTCACCATTTTGGGAGGCAGC	0.512													8	39	---	---	---	---
DAPK3	1613	broad.mit.edu	37	19	3964647	3964647	+	Silent	SNP	G	G	T	rs144975421	byFrequency	TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr19:3964647G>T	ENST00000545797.2	-	3	648	c.405C>A	c.(403-405)atC>atA	p.I135I	DAPK3_ENST00000301264.3_Silent_p.I135I			O43293	DAPK3_HUMAN	death-associated protein kinase 3	135	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAAGTGTGCGATGCGCTTAG	0.642													13	74	---	---	---	---
ZNF558	148156	broad.mit.edu	37	19	8931882	8931882	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chr19:8931882T>C	ENST00000601372.1	-	7	932	c.221A>G	c.(220-222)gAg>gGg	p.E74G	ZNF558_ENST00000444186.2_Missense_Mutation_p.E3G|ZNF558_ENST00000301475.1_Missense_Mutation_p.E74G			Q96NG5	ZN558_HUMAN	zinc finger protein 558	74	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCTGCAGTTCTCCAGCATCAC	0.512													4	28	---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12937492	12937492	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A8MG-01A-11D-A364-08	TCGA-V1-A8MG-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c1166ce-10f5-4e3d-93b6-bfdf96fddc4e	335eea2f-41a0-419e-9da3-316bb8514aa2	g.chrX:12937492delA	ENST00000218032.6	+	2	420	c.333delA	c.(331-333)tcafs	p.S111fs	TLR8_ENST00000311912.5_Frame_Shift_Del_p.S129fs	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	111					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTATACAATCAAATGGCTTGA	0.418													22	46	---	---	---	---
