Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MYOM2	9172	broad.mit.edu	37	8	2040223	2040223	+	Silent	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr8:2040223G>A	uc003wpx.4	+	15	2016	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	MYOM2_uc011kwi.2_Silent_p.T51T	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	626	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACACCAAGACGTCGGTGGTGG	0.572000													6	218					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184856	130184856	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:130184856C>A	uc009zyl.1	-	1	795	c.467G>T	c.(466-468)tGg>tTg	p.W156L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	156						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCGGTCGTCCCAGTCTCTGCC	0.607000													13	35					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78322341	78322341	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr5:78322341A>C	uc003kfs.3	-	12	2102	c.2096T>G	c.(2095-2097)aTg>aGg	p.M699R	DMGDH_uc011cte.1_Missense_Mutation_p.M549R|DMGDH_uc011ctf.1_Missense_Mutation_p.M498R|DMGDH_uc011ctg.1_Missense_Mutation_p.M319R	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	699					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.M699I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GCCTGCATTCATGATAGCGTC	0.512000													4	96					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466799	56466799	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:56466799G>A	uc002qmh.3	+	2	1446	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	NLRP8_uc010etg.3_Missense_Mutation_p.A459T	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	459	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACTTGGCCGCAGACAGCAT	0.498000													4	118					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137323832	137323832	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr9:137323832C>T	uc004cfb.2	+	7	1287	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	RXRA_uc004cfc.1_Silent_p.L278L	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	375	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCATCGTCCTCTTTAACCCTG	0.627000													22	24					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263440	34263440	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:34263440C>T	uc002nus.4	+	4	1252	c.747C>T	c.(745-747)agC>agT	p.S249S	CHST8_uc002nut.4_Silent_p.S249S|CHST8_uc002nuu.3_Silent_p.S249S	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	249					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACCGTCTCAGCACCTACACCA	0.602000													8	108					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47470042	47470042	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr3:47470042T>A	uc003crh.1	-	3	626	c.371A>T	c.(370-372)cAa>cTa	p.Q124L	SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	124					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTCCACCAGTTGGAATGCCCG	0.527000													7	201					0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31141896	31141896	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:31141896T>C	uc002eax.3	+	8	1144	c.1126T>C	c.(1126-1128)Ttc>Ctc	p.F376L	KAT8_uc002eay.3_Missense_Mutation_p.F376L|KAT8_uc002eaz.3_Missense_Mutation_p.F218L|KAT8_uc002eba.3_Missense_Mutation_p.F160L	NM_182958	NP_892003	Q9H7Z6	MYST1_HUMAN	Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 2, mRNA.	376					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										CCTGCGGGACTTCCGGGGCAC	0.647000													17	39					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131355261	131355261	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr9:131355261G>A	uc004bvm.4	+	23	3298	c.3156_splice	c.e23-1	p.Q1052_splice	SPTAN1_uc011mbg.2_Intron|SPTAN1_uc011mbh.2_Splice_Site_p.Q1064_splice|SPTAN1_uc004bvl.4_Splice_Site_p.Q1052_splice|SPTAN1_uc004bvn.4_Intron	NM_001130438	NP_001123910	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 1, mRNA.	1052					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCTCTGTGCAGGACACGCATA	0.532000													3	13					0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83857237	83857237	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr4:83857237G>C	uc003hnx.3	-	10	2120	c.1742C>G	c.(1741-1743)cCt>cGt	p.P581R	LIN54_uc003hnz.3_Missense_Mutation_p.P360R|LIN54_uc003hny.3_Missense_Mutation_p.P180R|LIN54_uc010ijt.2_Missense_Mutation_p.P492R|LIN54_uc010iju.2_Missense_Mutation_p.P180R|LIN54_uc010ijv.2_Missense_Mutation_p.P360R	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	581					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCCTATCTTAGGCTTAAAGGC	0.378000													17	94					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38137432	38137432	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr21:38137432G>C	uc010gnb.3	-	8	2975	c.1561C>G	c.(1561-1563)Ctt>Gtt	p.L521V	HLCS_uc021wjb.1_Missense_Mutation_p.L521V|HLCS_uc002yvs.3_Missense_Mutation_p.L521V	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	521					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGAGTAGAAAGAGCACATCCC	0.572000													4	75					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18513180	18513180	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr8:18513180T>C	uc003wza.3	-	9	2291	c.2188A>G	c.(2188-2190)Atc>Gtc	p.I730V	PSD3_uc003wyx.4_Missense_Mutation_p.I59V|PSD3_uc003wyy.3_Missense_Mutation_p.I196V|PSD3_uc003wyz.3_Missense_Mutation_p.I31V	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	731	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCATTCTTGATTGAGTTGTAC	0.373000													3	88					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060967	12060967	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr19:12060967G>A	uc010xme.2	+	4	2373	c.2182G>A	c.(2182-2184)Gga>Aga	p.G728R	ZNF700_uc002msu.3_Missense_Mutation_p.G710R|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TAAGGAATGCGGAAAAGCATT	0.383000													3	58					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71519144	71519144	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:71519144C>A	uc001swk.1	-	11	1237	c.684G>T	c.(682-684)atG>atT	p.M228I	TSPAN8_uc009zrt.1_Missense_Mutation_p.M228I|TSPAN8_uc001swj.1_Missense_Mutation_p.M228I	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	228					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AATACAGGACCATAGAAAACA	0.353000													49	73					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58560012	58560012	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:58560012G>A	uc002env.3	-	44	6777	c.6484C>T	c.(6484-6486)Ccc>Tcc	p.P2162S	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P2157S|CNOT1_uc002ent.3_Missense_Mutation_p.P100S|CNOT1_uc010vik.2_Missense_Mutation_p.P1119S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2162					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGAATCCGGGGAGCAATGTTA	0.378000													32	94					0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21646063	21646063	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr18:21646063G>A	uc002kuw.3	+	2	756	c.304G>A	c.(304-306)Gct>Act	p.A102T	TTC39C_uc002kuu.3_Missense_Mutation_p.A41T	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	102							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AAGTGAAGAGGCTGGAGTAAT	0.358000													12	41					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170802927	170802927	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr3:170802927T>A	uc003fhh.2	-	24	3323	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	TNIK_uc003fhi.2_Missense_Mutation_p.D938V|TNIK_uc003fhj.2_Missense_Mutation_p.D964V|TNIK_uc003fhk.2_Missense_Mutation_p.D985V|TNIK_uc003fhl.2_Missense_Mutation_p.D909V|TNIK_uc003fhm.2_Missense_Mutation_p.D930V|TNIK_uc003fhn.2_Missense_Mutation_p.D956V|TNIK_uc003fho.2_Missense_Mutation_p.D901V|TNIK_uc003fhg.2_Missense_Mutation_p.D171V|TNIK_uc003fhp.3_5'Flank	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	993	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGATTCCTCATCCTCTTCATC	0.478000													5	18					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70732321	70732321	+	Silent	SNP	A	A	G			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr12:70732321A>G	uc001svv.3	+	9	1581	c.999A>G	c.(997-999)aaA>aaG	p.K333K	CNOT2_uc009zro.3_Silent_p.K333K|CNOT2_uc009zrp.3_Silent_p.K313K|CNOT2_uc009zrq.3_Silent_p.K333K|CNOT2_uc001svw.1_Silent_p.K73K	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	333					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AGCAGAAAAAAGGGATCCAGG	0.323000													3	107					0	0	1	0	0
INO80E	283899	broad.mit.edu	37	16	30012109	30012109	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr16:30012109G>A	uc002dvg.1	+	3	337	c.236G>A	c.(235-237)aGc>aAc	p.S79N	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	Homo sapiens INO80 complex subunit E (INO80E), mRNA.	79					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						TCAGATAACAGCGAGACGGAG	0.587000													3	58					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530372	140530372	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr5:140530372C>A	uc003lir.3	+	0	534	c.534C>A	c.(532-534)caC>caA	p.H178Q		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	178	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCACTTCCACGTTCTCACCC	0.547000													12	357					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107148766	107148766	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chrX:107148766G>A	uc004enl.3	+	4	1556	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	MID2_uc004enk.3_Missense_Mutation_p.R328Q	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	328						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTCTTGAACGGTCAACAGTC	0.403000													9	115					0	0	1	0	0
BGN	633	broad.mit.edu	37	X	152772037	152772037	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chrX:152772037G>A	uc004fhr.2	+	4	852	c.616G>A	c.(616-618)Gat>Aat	p.D206N		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	206						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGCCTTCGATGGCCTGAA	0.612000													12	63					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	65					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41539194	41539194	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr21:41539194T>C	uc002yyq.1	-	15	3421	c.2969A>G	c.(2968-2970)gAa>gGa	p.E990G	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	990	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGTGAACTTCCTGAGGTGG	0.532000													3	100					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166536026	166536026	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr2:166536026C>T	uc002udf.3	+	6	1897	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	CSRNP3_uc002udg.3_Silent_p.S507S	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	507					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCTCCTCTTCCGAAAATGATA	0.512000													16	37					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2040223	2040223	+	Silent	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr8:2040223G>A	uc003wpx.4	+	15	2016	c.1878G>A	c.(1876-1878)acG>acA	p.T626T	MYOM2_uc011kwi.2_Silent_p.T51T	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	626	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACACCAAGACGTCGGTGGTGG	0.572000													6	218					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81188003	81188003	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr4:81188003C>T	uc003hmd.3	+	0	262	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	FGF5_uc003hme.3_Missense_Mutation_p.L9F	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	9					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCTCCTCCTCCTCTTCTTCAG	0.627000													3	91					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184856	130184856	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr12:130184856C>A	uc009zyl.1	-	1	795	c.467G>T	c.(466-468)tGg>tTg	p.W156L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	156						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCGGTCGTCCCAGTCTCTGCC	0.607000													13	35					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78322341	78322341	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr5:78322341A>C	uc003kfs.3	-	12	2102	c.2096T>G	c.(2095-2097)aTg>aGg	p.M699R	DMGDH_uc011cte.1_Missense_Mutation_p.M549R|DMGDH_uc011ctf.1_Missense_Mutation_p.M498R|DMGDH_uc011ctg.1_Missense_Mutation_p.M319R	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	699					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.M699I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GCCTGCATTCATGATAGCGTC	0.512000													4	96					0	0	1	0	0
CGB2	114336	broad.mit.edu	37	19	49536439	49536439	+	Silent	SNP	A	A	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr19:49536439A>T	uc002plw.3	+	2	676	c.453A>T	c.(451-453)cgA>cgT	p.R151R	SNAR-G2_uc010yae.1_5'Flank|CGB2_uc010yaf.2_Silent_p.R139R	NM_033378	NP_203696			Homo sapiens chorionic gonadotropin, beta polypeptide 2 (CGB2), mRNA.											large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCCCATCCCGACTCCCGGGGC	0.637000													5	105					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137323832	137323832	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr9:137323832C>T	uc004cfb.2	+	7	1287	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	RXRA_uc004cfc.1_Silent_p.L278L	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	375	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCATCGTCCTCTTTAACCCTG	0.627000													22	24					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263440	34263440	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr19:34263440C>T	uc002nus.4	+	4	1252	c.747C>T	c.(745-747)agC>agT	p.S249S	CHST8_uc002nut.4_Silent_p.S249S|CHST8_uc002nuu.3_Silent_p.S249S	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	249					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACCGTCTCAGCACCTACACCA	0.602000													8	108					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47470042	47470042	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr3:47470042T>A	uc003crh.1	-	3	626	c.371A>T	c.(370-372)cAa>cTa	p.Q124L	SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	124					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CTCCACCAGTTGGAATGCCCG	0.527000													7	201					0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31141896	31141896	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr16:31141896T>C	uc002eax.3	+	8	1144	c.1126T>C	c.(1126-1128)Ttc>Ctc	p.F376L	KAT8_uc002eay.3_Missense_Mutation_p.F376L|KAT8_uc002eaz.3_Missense_Mutation_p.F218L|KAT8_uc002eba.3_Missense_Mutation_p.F160L	NM_182958	NP_892003	Q9H7Z6	MYST1_HUMAN	Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 2, mRNA.	376					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										CCTGCGGGACTTCCGGGGCAC	0.647000													17	39					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131355261	131355261	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr9:131355261G>A	uc004bvm.4	+	23	3298	c.3156_splice	c.e23-1	p.Q1052_splice	SPTAN1_uc011mbg.2_Intron|SPTAN1_uc011mbh.2_Splice_Site_p.Q1064_splice|SPTAN1_uc004bvl.4_Splice_Site_p.Q1052_splice|SPTAN1_uc004bvn.4_Intron	NM_001130438	NP_001123910	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 1, mRNA.	1052					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCTCTGTGCAGGACACGCATA	0.532000													3	13					0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83857237	83857237	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr4:83857237G>C	uc003hnx.3	-	10	2120	c.1742C>G	c.(1741-1743)cCt>cGt	p.P581R	LIN54_uc003hnz.3_Missense_Mutation_p.P360R|LIN54_uc003hny.3_Missense_Mutation_p.P180R|LIN54_uc010ijt.2_Missense_Mutation_p.P492R|LIN54_uc010iju.2_Missense_Mutation_p.P180R|LIN54_uc010ijv.2_Missense_Mutation_p.P360R	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	581					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCCTATCTTAGGCTTAAAGGC	0.378000													17	94					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38137432	38137432	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr21:38137432G>C	uc010gnb.3	-	8	2975	c.1561C>G	c.(1561-1563)Ctt>Gtt	p.L521V	HLCS_uc021wjb.1_Missense_Mutation_p.L521V|HLCS_uc002yvs.3_Missense_Mutation_p.L521V	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	521					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGAGTAGAAAGAGCACATCCC	0.572000													4	75					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18513180	18513180	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr8:18513180T>C	uc003wza.3	-	9	2291	c.2188A>G	c.(2188-2190)Atc>Gtc	p.I730V	PSD3_uc003wyx.4_Missense_Mutation_p.I59V|PSD3_uc003wyy.3_Missense_Mutation_p.I196V|PSD3_uc003wyz.3_Missense_Mutation_p.I31V	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	731	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCATTCTTGATTGAGTTGTAC	0.373000													3	88					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12060967	12060967	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr19:12060967G>A	uc010xme.2	+	4	2373	c.2182G>A	c.(2182-2184)Gga>Aga	p.G728R	ZNF700_uc002msu.3_Missense_Mutation_p.G710R|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TAAGGAATGCGGAAAAGCATT	0.383000													3	58					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71519144	71519144	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr12:71519144C>A	uc001swk.1	-	11	1237	c.684G>T	c.(682-684)atG>atT	p.M228I	TSPAN8_uc009zrt.1_Missense_Mutation_p.M228I|TSPAN8_uc001swj.1_Missense_Mutation_p.M228I	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	228					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AATACAGGACCATAGAAAACA	0.353000													49	73					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58560012	58560012	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr16:58560012G>A	uc002env.3	-	44	6777	c.6484C>T	c.(6484-6486)Ccc>Tcc	p.P2162S	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P2157S|CNOT1_uc002ent.3_Missense_Mutation_p.P100S|CNOT1_uc010vik.2_Missense_Mutation_p.P1119S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2162					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGAATCCGGGGAGCAATGTTA	0.378000													32	94					0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21646063	21646063	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr18:21646063G>A	uc002kuw.3	+	2	756	c.304G>A	c.(304-306)Gct>Act	p.A102T	TTC39C_uc002kuu.3_Missense_Mutation_p.A41T	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	102							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AAGTGAAGAGGCTGGAGTAAT	0.358000													12	41					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170802927	170802927	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr3:170802927T>A	uc003fhh.2	-	24	3323	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	TNIK_uc003fhi.2_Missense_Mutation_p.D938V|TNIK_uc003fhj.2_Missense_Mutation_p.D964V|TNIK_uc003fhk.2_Missense_Mutation_p.D985V|TNIK_uc003fhl.2_Missense_Mutation_p.D909V|TNIK_uc003fhm.2_Missense_Mutation_p.D930V|TNIK_uc003fhn.2_Missense_Mutation_p.D956V|TNIK_uc003fho.2_Missense_Mutation_p.D901V|TNIK_uc003fhg.2_Missense_Mutation_p.D171V|TNIK_uc003fhp.3_5'Flank	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	993	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGATTCCTCATCCTCTTCATC	0.478000													5	18					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70732321	70732321	+	Silent	SNP	A	A	G			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr12:70732321A>G	uc001svv.3	+	9	1581	c.999A>G	c.(997-999)aaA>aaG	p.K333K	CNOT2_uc009zro.3_Silent_p.K333K|CNOT2_uc009zrp.3_Silent_p.K313K|CNOT2_uc009zrq.3_Silent_p.K333K|CNOT2_uc001svw.1_Silent_p.K73K	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	333					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AGCAGAAAAAAGGGATCCAGG	0.323000													3	107					0	0	1	0	0
INO80E	283899	broad.mit.edu	37	16	30012109	30012109	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr16:30012109G>A	uc002dvg.1	+	3	337	c.236G>A	c.(235-237)aGc>aAc	p.S79N	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	Homo sapiens INO80 complex subunit E (INO80E), mRNA.	79					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						TCAGATAACAGCGAGACGGAG	0.587000													3	58					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530372	140530372	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr5:140530372C>A	uc003lir.3	+	0	534	c.534C>A	c.(532-534)caC>caA	p.H178Q		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	178	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCACTTCCACGTTCTCACCC	0.547000													12	357					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107148766	107148766	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chrX:107148766G>A	uc004enl.3	+	4	1556	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	MID2_uc004enk.3_Missense_Mutation_p.R328Q	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	328						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTCTTGAACGGTCAACAGTC	0.403000													9	115					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466799	56466799	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr19:56466799G>A	uc002qmh.3	+	2	1446	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	NLRP8_uc010etg.3_Missense_Mutation_p.A459T	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	459	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACTTGGCCGCAGACAGCAT	0.498000													4	118					0	0	1	0	0
BGN	633	broad.mit.edu	37	X	152772037	152772037	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chrX:152772037G>A	uc004fhr.2	+	4	852	c.616G>A	c.(616-618)Gat>Aat	p.D206N		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	206						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGCCTTCGATGGCCTGAA	0.612000													12	63					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				38	65					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41539194	41539194	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr21:41539194T>C	uc002yyq.1	-	15	3421	c.2969A>G	c.(2968-2970)gAa>gGa	p.E990G	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	990	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGTGAACTTCCTGAGGTGG	0.532000													3	100					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166536026	166536026	+	Silent	SNP	C	C	T			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr2:166536026C>T	uc002udf.3	+	6	1897	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	CSRNP3_uc002udg.3_Silent_p.S507S	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	507					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GCTCCTCTTCCGAAAATGATA	0.512000													16	37					0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28087061	28087062	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	bb3c6413-0dd0-419e-b1a7-6af329df63c7	g.chr1:28087061_28087062delCA	uc001bor.3	+	9	1097_1098	c.995_996delCA	c.(994-996)tcafs	p.S332fs	FAM76A_uc001boq.3_Frame_Shift_Del_p.S298fs|FAM76A_uc001bos.3_Frame_Shift_Del_p.S303fs|FAM76A_uc001bot.3_Frame_Shift_Del_p.S269fs|FAM76A_uc010ofm.2_Frame_Shift_Del_p.S218fs	NM_001143912	NP_001137384	Q8TAV0	FA76A_HUMAN	Homo sapiens family with sequence similarity 76, member A (FAM76A), transcript variant 1, mRNA.	298										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAAGAAGTCAGAGAAGTCAG	0.480													19	17	---	---	---	---					
FAM76A	199870	broad.mit.edu	37	1	28087061	28087062	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BJ-A3PU-01A-11D-A21Z-08	TCGA-BJ-A3PU-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba44b965-4879-47b7-8501-a0c2e28ed95d	76aa02be-13b4-40c3-bb19-d0cf1c4cc210	g.chr1:28087061_28087062delCA	uc001bor.3	+	9	1097_1098	c.995_996delCA	c.(994-996)tcafs	p.S332fs	FAM76A_uc001boq.3_Frame_Shift_Del_p.S298fs|FAM76A_uc001bos.3_Frame_Shift_Del_p.S303fs|FAM76A_uc001bot.3_Frame_Shift_Del_p.S269fs|FAM76A_uc010ofm.2_Frame_Shift_Del_p.S218fs	NM_001143912	NP_001137384	Q8TAV0	FA76A_HUMAN	Homo sapiens family with sequence similarity 76, member A (FAM76A), transcript variant 1, mRNA.	298										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAAGAAGTCAGAGAAGTCAG	0.480													19	17	---	---	---	---