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
TRANK1	9881	broad.mit.edu	37	3	36875229	36875229	+	Silent	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr3:36875229A>G	uc003cgj.3	-	20	5961	c.5713T>C	c.(5713-5715)Tta>Cta	p.L1905L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1905					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTTCTGCTAAGCGTTTCCGA	0.512000													8	107					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131671806	131671806	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr10:131671806T>G	uc021qav.1	-	7	750	c.649A>C	c.(649-651)Aac>Cac	p.N217H	EBF3_uc001lki.2_Missense_Mutation_p.N231H	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	231					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ACAAACATGTTGTCTGACACG	0.512000													4	47					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987072	61987072	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr13:61987072C>T	uc001vid.4	-	1	1524	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	PCDH20_uc010thj.2_Missense_Mutation_p.G387E	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	360	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AACACTTCCTCCAATCTTACT	0.398000													8	100					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480508	140480508	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:140480508G>A	uc003lio.3	+	0	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	92	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATTGGACCGGGAGGAGCTA	0.483000													10	104					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71044226	71044226	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr8:71044226C>T	uc003xyn.1	-	15	3332	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	NCOA2_uc011lfb.1_Missense_Mutation_p.G145D	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1057					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGGAGAACTGCCAAATGGCTG	0.453000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								3	25					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77862494	77862494	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr13:77862494A>T	uc021rks.1	-	2	663	c.396T>A	c.(394-396)aaT>aaA	p.N132K	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATTACTGTATTCTCTAAGT	0.323000													6	39					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45779410	45779410	+	Silent	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr22:45779410G>A	uc003bgc.3	-	11	2047	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	SMC1B_uc003bgd.3_Silent_p.C665C|SMC1B_uc003bge.1_Silent_p.C448C	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	665	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTCATCCCAGCATCTAGCCT	0.343000													8	41					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655919	12655919	+	Silent	SNP	T	T	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:12655919T>A	uc002gno.2	+	9	1613	c.1314T>A	c.(1312-1314)tcT>tcA	p.S438S	MYOCD_uc002gnn.2_Silent_p.S438S|MYOCD_uc002gnp.1_Silent_p.S342S|MYOCD_uc002gnq.2_Silent_p.S157S	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	438	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTCCTCTTCTACCAGTGCCC	0.582000													9	126					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151153981	151153981	+	Splice_Site	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:151153981G>A	uc003ilo.4	+	11	2371	c.1617_splice	c.e11+1	p.L539_splice	DCLK2_uc003ilp.4_Splice_Site|DCLK2_uc003ilm.4_Splice_Site_p.L522_splice|DCLK2_uc003iln.4_Splice_Site_p.L521_splice	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	522	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GAATCTCTTGGTATGTCATCC	0.438000													9	112					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5012621	5012621	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:5012621T>A	uc001lzv.3	+	3	508	c.490T>A	c.(490-492)Ttt>Att	p.F164I		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	164					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGTTGGCCCTTTGATGGGCC	0.463000													53	192					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322041	45322041	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:45322041C>T	uc002ozu.3	+	9	1282	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	BCAM_uc002ozt.1_Missense_Mutation_p.S413F	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	413	Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.S413F(2)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TCGCTCAGTTCTATCACCTTC	0.627000													20	138					0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26432517	26432517	+	Missense_Mutation	SNP	A	A	G	rs1064404		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:26432517A>G	uc003grx.2	+	11	1627	c.1391A>G	c.(1390-1392)aAt>aGt	p.N464S	RBPJ_uc003gry.2_Missense_Mutation_p.N449S|RBPJ_uc003grz.2_Missense_Mutation_p.N464S|RBPJ_uc003gsa.2_Missense_Mutation_p.N450S|RBPJ_uc003gsb.2_Missense_Mutation_p.N451S	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	464					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CTTCGAGCCAATTCAAGCCAG	0.498000													8	84					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:7577022G>A	uc002gim.2	-	7	1110	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(260)|p.K305*(17)|p.0?(8)|p.R306fs*39(4)|p.?(3)|p.K305N(3)|p.K305fs*1(2)|p.R306R(2)|p.K305R(2)|p.K305K(1)|p.L265_K305del41(1)|p.K305E(1)|p.K305fs*32(1)|p.K305T(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTACCTCGCTTAGTGCTC	0.562000	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	64					0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2190969	2190969	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:2190969C>T	uc001lvq.3	-	2	335	c.316G>A	c.(316-318)Gag>Aag	p.E106K	TH_uc001lvp.3_Missense_Mutation_p.E102K|TH_uc001lvr.3_Missense_Mutation_p.E75K|TH_uc010qxj.2_Missense_Mutation_p.E79K|TH_uc001lvs.3_Missense_Mutation_p.E75K|TH_uc001lvt.3_Missense_Mutation_p.E79K|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	106					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCCTCCTTCTCCTCAAAGGCC	0.692000													6	53					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585690	179585690	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:179585690C>A	uc021vsy.1	-	75	19549	c.19324G>T	c.(19324-19326)Ggt>Tgt	p.G6442C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3103C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7369							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCAACACCATTATGAGCC	0.433000													5	60					0.014758	0.014758	1	1	0
MUC16	94025	broad.mit.edu	37	19	9069935	9069935	+	Silent	SNP	G	G	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:9069935G>T	uc002mkp.3	-	2	17715	c.17511C>A	c.(17509-17511)ccC>ccA	p.P5837P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5839	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAGATGTAGGGTGACATTT	0.473000													11	119					1.58986e-06	1.74274e-06	1	1	0
CRHBP	1393	broad.mit.edu	37	5	76259212	76259212	+	Silent	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:76259212G>A	uc003ker.3	+	5	1018	c.738G>A	c.(736-738)ctG>ctA	p.L246L		NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	246					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTGTGGAGCTGCTGGGAGGAA	0.458000													9	104					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	by1000genomes	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr22:18778612C>T	uc011ago.1	-	1		c.208G>A			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		GCGGCCACGGCAGCCCTGGTG	0.637000													4	25					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166897764	166897764	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:166897764T>A	uc002udo.4	-	14	2619	c.2392A>T	c.(2392-2394)Aat>Tat	p.N798Y	SCN1A_uc010fpk.3_Missense_Mutation_p.N770Y|SCN1A_uc021vsb.1_Missense_Mutation_p.N787Y	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	798						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTAAGCACATTATTGAAATGG	0.363000													18	60					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128094894	128094894	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:128094894A>G	uc004bpp.3	+	12	2574	c.2414A>G	c.(2413-2415)gAt>gGt	p.D805G	GAPVD1_uc011lzs.1_Missense_Mutation_p.D805G|GAPVD1_uc004bpq.3_Missense_Mutation_p.D805G|GAPVD1_uc010mwx.3_Missense_Mutation_p.D805G|GAPVD1_uc004bpr.3_Missense_Mutation_p.D784G|GAPVD1_uc004bps.3_Missense_Mutation_p.D805G|GAPVD1_uc010mwy.1_Missense_Mutation_p.D664G	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	805					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCAGACATGGATGAAATAACT	0.448000													14	58					0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	35974371	35974371	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:35974371C>G	uc002hoi.2	-	14	1814	c.1770G>C	c.(1768-1770)aaG>aaC	p.K590N	DDX52_uc002hoh.2_Missense_Mutation_p.K482N	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	590	Lys-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CTACTTTCTTCTTGCTGTTCT	0.323000													5	26					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139996094	139996094	+	Silent	SNP	C	C	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:139996094C>T	uc004cld.2	+	7	1259	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	MAN1B1_uc004clc.2_Silent_p.L309L|MAN1B1_uc011meo.1_Silent_p.L309L|MAN1B1_uc011mep.2_Silent_p.L408L|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	408					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCCGGGAGCTCTCCCGTCTCA	0.597000													5	18					0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49814258	49814258	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:49814258T>C	uc003ozw.2	-	4	489	c.410A>G	c.(409-411)gAc>gGc	p.D137G	CRISP1_uc003ozx.2_Missense_Mutation_p.D137G|CRISP1_uc021zaj.1_Missense_Mutation_p.D137G	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	137					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AGTAGTTATGTCATCATCCGT	0.403000													6	79					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								11	48					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239282	126239282	+	Silent	SNP	C	C	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:126239282C>G	uc003ifj.4	+	0	1716	c.1716C>G	c.(1714-1716)ctC>ctG	p.L572L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	572	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGTAACTCTCCTAGATGTGA	0.498000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	58					0	0	1	0	0
BC139719	0	broad.mit.edu	37	16	90161609	90161609	+	Missense_Mutation	SNP	A	A	G	rs139928438	by1000genomes	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr16:90161609A>G	uc002fqq.3	+	3	535	c.535A>G	c.(535-537)Agt>Ggt	p.S179G	BC139719_uc002fqp.3_Missense_Mutation_p.S162G					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		TGATGGAGTCAGTGATGGACG	0.617000													3	44					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085872	17085872	+	Missense_Mutation	SNP	A	A	G	rs1806514	by1000genomes	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:17085872A>G	uc010ock.2	-	7	949	c.949T>C	c.(949-951)Tgg>Cgg	p.W317R	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.W307R(1)|p.W317R(1)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TCGAGGTTCCAGCAGAAGTTC	0.662000													4	41					0	0	1	0	0
GAST	2520	broad.mit.edu	37	17	39871798	39871798	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:39871798G>A	uc002hxl.3	+	1	177	c.110G>A	c.(109-111)gGg>gAg	p.G37E	JUP_uc010wfs.2_Intron	NM_000805	NP_000796	P01350	GAST_HUMAN	Homo sapiens gastrin (GAST), mRNA.	37						extracellular region	hormone activity	p.G37G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTAGGTACAGGGGCCAACAGG	0.627000													8	147					0	0	1	0	0
LSM11	134353	broad.mit.edu	37	5	157178479	157178479	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:157178479A>G	uc003lxe.1	+	1	534	c.530A>G	c.(529-531)aAg>aGg	p.K177R		NM_173491	NP_775762	P83369	LSM11_HUMAN	Homo sapiens LSM11, U7 small nuclear RNA associated (LSM11), mRNA.	177	SM 1.				S phase of mitotic cell cycle|histone mRNA 3'-end processing|termination of RNA polymerase II transcription	U7 snRNP|histone pre-mRNA 3'end processing complex|nucleoplasm	U7 snRNA binding|protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGCACTTTCAAGGGACTTCGG	0.507000													7	90					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51751986	51751986	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr12:51751986G>T	uc001ryk.2	-	7	1653	c.1428C>A	c.(1426-1428)aaC>aaA	p.N476K	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.N476K|GALNT6_uc001ryj.1_Missense_Mutation_p.N41K	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	476					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACCAGGAAAAGTTGTGACAGT	0.517000													21	100					2.27731e-05	2.44918e-05	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31323665	31323665	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr18:31323665A>G	uc010dmg.1	+	11	3908	c.3853A>G	c.(3853-3855)Atc>Gtc	p.I1285V	ASXL3_uc002kxq.2_Missense_Mutation_p.I992V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1285	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTAAAAACCATCCAGGGAAC	0.408000													17	70					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085865	17085865	+	Missense_Mutation	SNP	A	A	G	rs1057378	by1000genomes	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:17085865A>G	uc010ock.2	-	7	956	c.956T>C	c.(955-957)cTc>cCc	p.L319P	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.L319P(2)|p.L309P(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TGAGCCGTCGAGGTTCCAGCA	0.667000													5	39					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104099417	104099417	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr12:104099417A>G	uc001tjw.3	+	36	4094	c.3908A>G	c.(3907-3909)gAg>gGg	p.E1303G		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1303					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGGTAATGAGAAGAGGAGA	0.428000													7	30					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679992	100679992	+	Missense_Mutation	SNP	G	G	T	rs148096926	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr7:100679992G>T	uc003uxp.1	+	2	5348	c.5295G>T	c.(5293-5295)gaG>gaT	p.E1765D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1765	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGTTCTGAGGCTAGCACCC	0.502000													87	416					3.62344e-47	4.13072e-47	1	1	0
FAM92A1P2	403315	broad.mit.edu	37	4	183959255	183959255	+	RNA	SNP	C	C	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:183959255C>A	uc003ivi.4	+	0		c.438C>A								Homo sapiens family with sequence similarity 92, member A3 (FAM92A3), non-coding RNA.																		ACGGGATGACCCCAAAGCAAC	0.418000													3	20					0.004672	0.00484189	1	1	0
FLJ36000	284124	broad.mit.edu	37	17	21904083	21904083	+	RNA	SNP	C	C	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:21904083C>A	uc002gza.2	+	0		c.22C>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctgacctctccacggggtcca	0.677000													3	23					6.4e-05	6.75556e-05	1	1	0
TINAG	27283	broad.mit.edu	37	6	54254705	54254705	+	Silent	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:54254705G>A	uc003pcj.2	+	10	1559	c.1413G>A	c.(1411-1413)acG>acA	p.T471T	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	471					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCCAACTGACGAGTTCTGATG	0.408000													9	123					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133967332	133967332	+	Splice_Site	SNP	G	G	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr10:133967332G>T	uc001lkx.4	+	17	2136	c.2136_splice	c.e17+1	p.K712_splice	JAKMIP3_uc009yba.1_Splice_Site_p.K149_splice	NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAGCGAGAAGGTTGGTGGCAC	0.592000													12	178					2.80697e-09	3.13721e-09	1	1	0
CHERP	10523	broad.mit.edu	37	19	16640580	16640580	+	Silent	SNP	T	T	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:16640580T>C	uc002nei.1	-	7	1082	c.1008A>G	c.(1006-1008)caA>caG	p.Q336Q	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	336	Gln-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.Q336Q(4)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgctgttgctgctgct	0.667000													4	43					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107062360	107062360	+	RNA	SNP	A	A	G			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr14:107062360A>G	uc021ser.1	-	150		c.6626T>C								Parts of antibodies, mostly variable regions.																		GACAGCGCAGATGAGGGACAG	0.612000													4	80					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18845939	18845939	+	RNA	SNP	G	G	A	rs117961252	by1000genomes	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr22:18845939G>A	uc002zoe.3	+	4		c.2301G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TGCCTGGGCCGTGGAGCACTC	0.483000													4	34					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52836815	52836815	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr3:52836815G>A	uc003dfv.2	+	12	1738	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	568					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCAGCTGCTGGAGAAGCGGTG	0.622000													4	33					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11002910	11002910	+	Silent	SNP	G	G	A	rs148091568	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr16:11002910G>A	uc002daj.4	+	11	2818	c.2685G>A	c.(2683-2685)gcG>gcA	p.A895A	CIITA_uc002dai.4_Silent_p.A894A|CIITA_uc002dak.4_Silent_p.A310A|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	894					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.A894A(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACACGGTGGCGCTGTGGGAGT	0.602000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								7	56					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43945326	43945326	+	Splice_Site	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr20:43945326G>A	uc002xns.3	+	12	1353	c.1281_splice	c.e12-1	p.R427_splice	RBPJL_uc002xnt.3_Splice_Site_p.E431_splice	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	427	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCACCCCCAGGAGCCCGCGGT	0.726000													3	14					0	0	1	0	0
NKX3-2	579	broad.mit.edu	37	4	13543758	13543758	+	Silent	SNP	G	G	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:13543758G>C	uc003gmx.2	-	1	937	c.861C>G	c.(859-861)cgC>cgG	p.R287R		NM_001189	NP_001180	P78367	NKX32_HUMAN	Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.	287					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R287H(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCTGGTCGTCGCGCACCAGCA	0.647000													7	19					0	0	1	0	0
BEST1	7439	broad.mit.edu	37	11	61724345	61724345	+	Silent	SNP	T	T	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:61724345T>C	uc001nsr.2	+	3	903	c.331T>C	c.(331-333)Ttg>Ctg	p.L111L	BEST1_uc010rlp.2_Silent_p.L111L|BEST1_uc001nsq.3_Silent_p.L65L|BEST1_uc010rlq.1_Silent_p.L111L|BEST1_uc010rlr.1_Silent_p.L171L|BEST1_uc010rls.1_Intron|BEST1_uc001nss.3_Silent_p.L171L|BEST1_uc009ynt.3_Non-coding_Transcript|BEST1_uc010rlt.2_Silent_p.L111L|BEST1_uc001nst.3_Silent_p.L111L|BEST1_uc010rlu.1_Silent_p.L65L|BEST1_uc010rlv.2_Silent_p.L65L	NM_001139443	NP_001132915	O76090	BEST1_HUMAN	Homo sapiens bestrophin 1 (BEST1), transcript variant 2, mRNA.	171					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						ACACAAGCAGTTGGAGAAACT	0.577000													29	264					0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35941277	35941277	+	Missense_Mutation	SNP	G	G	A	rs61746520	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:35941277G>A	uc002nzg.2	+	1	741	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	FFAR2_uc010eea.3_Missense_Mutation_p.V221M	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	221						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.V221E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCGCCGAGCCGTGGGGCTGGC	0.602000													9	120					0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29977342	29977342	+	Missense_Mutation	SNP	A	A	T	rs116382006	by1000genomes	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:29977342A>T	uc021yty.1	+	4	388	c.370A>T	c.(370-372)Agg>Tgg	p.R124W	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Missense_Mutation_p.R121W					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		TGGGACTGAGAGGCAAGATTT	0.438000													3	41					0	0	1	0	0
MYCBP	26292	broad.mit.edu	37	1	39330370	39330370	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:39330370G>A	uc021olq.1	-	4	464	c.305C>T	c.(304-306)cCa>cTa	p.P102L	RRAGC_uc001ccr.2_5'UTR|MYCBP_uc001ccs.3_Missense_Mutation_p.P95L	NM_012333	NP_036465	Q99417	MYCBP_HUMAN	Homo sapiens c-myc binding protein (MYCBP), transcript variant 1, mRNA.	95					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	mitochondrion|nucleus	protein binding|transcription coactivator activity			large_intestine(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)				CTCCTGAGGTGGTTCATACTG	0.328000													9	47					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86838484	86838484	+	Splice_Site	SNP	A	A	C			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr15:86838484A>C	uc002blz.1	+	16	2163	c.2083_splice	c.e16-2	p.T695_splice	AGBL1_uc002bma.1_Splice_Site_p.T426_splice|AGBL1_uc002bmb.1_Splice_Site_p.T389_splice	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	695					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTTCTGCTCCAGACTCATCTT	0.398000													5	28					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:8716284_8716285delTC	uc001ape.3	-	2	882_883	c.72_73delGA	c.(70-75)gagaaafs	p.E24fs	RERE_uc001apf.3_Frame_Shift_Del_p.E24fs|RERE_uc001aph.1_Frame_Shift_Del_p.E24fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	24					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505													8	225	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48866909	48866910	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr8:48866909_48866910insT	uc003xqi.3	-	4	553_554	c.496_497insA	c.(496-498)atafs	p.I166fs	PRKDC_uc003xqj.3_Frame_Shift_Ins_p.I166fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	166					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTATCTGGTATTTTTTTTTTC	0.267								Non-homologous end-joining					3	2	---	---	---	---					
MAPK7	5598	broad.mit.edu	37	17	19285244	19285244	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:19285244delG	uc002gvn.3	+	4	2014	c.1628delG	c.(1627-1629)cggfs	p.R543fs	MAPK7_uc002gvo.3_Frame_Shift_Del_p.R404fs|MAPK7_uc002gvq.3_Frame_Shift_Del_p.R543fs|MAPK7_uc002gvp.3_Frame_Shift_Del_p.R543fs	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	543	Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					cgaaaggaacggggggctggg	0.677													2	4	---	---	---	---					
C20orf151	140893	broad.mit.edu	37	20	60990678	60990678	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr20:60990678delT	uc002ycw.2	-	7	780	c.583delA	c.(583-585)atcfs	p.I195fs		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	195										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			CCTGGGGAGATTTTGGCCACT	0.677													7	219	---	---	---	---					
