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	ENST00000301807.6	-	21	5960	c.4063T>C	c.(4063-4065)Tta>Cta	p.L1355L	TRANK1_ENST00000428977.2_Silent_p.L1355L|TRANK1_ENST00000429976.2_Silent_p.L1905L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	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	ENST00000368648.3	-	8	763	c.691A>C	c.(691-693)Aac>Cac	p.N231H	EBF3_ENST00000355311.5_Missense_Mutation_p.N231H	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	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
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	ENST00000380390.1	+	5	706	c.490T>A	c.(490-492)Ttt>Att	p.F164I	MMP26_ENST00000300762.1_Missense_Mutation_p.F164I			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	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
PCDHB3	0	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	ENST00000231130.2	+	1	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		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	ENST00000452400.2	-	16	3351	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	NCOA2_ENST00000267974.4_Missense_Mutation_p.G145D	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	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	ENST00000407578.2	-	3	662	c.396T>A	c.(394-396)aaT>aaA	p.N132K	MYCBP2_ENST00000544440.2_Missense_Mutation_p.N94K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N94K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	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	ENST00000357450.4	-	12	1994	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	SMC1B_ENST00000404354.3_Silent_p.C665C	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	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	ENST00000425538.1	+	10	1514	c.1314T>A	c.(1312-1314)tcT>tcA	p.S438S	MYOCD_ENST00000343344.4_Silent_p.S438S|MYOCD_ENST00000395988.1_Silent_p.S342S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	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	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|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
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	ENST00000306151.4	+	3	5359	c.5295G>T	c.(5293-5295)gaG>gaT	p.E1765D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	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	4.03254e-47	1	1	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	ENST00000296550.7	+	10	2320		c.e10+1		DCLK2_ENST00000506325.1_Splice_Site|DCLK2_ENST00000302176.8_Splice_Site	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2						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
RNF183	138065	broad.mit.edu	37	9	116060197	116060197	+	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.chr9:116060197G>A	ENST00000478815.1	-	1	1848	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	RNF183_ENST00000297894.5_Missense_Mutation_p.H90Y|RNF183_ENST00000416588.2_Missense_Mutation_p.H90Y|RNF183_ENST00000441031.3_Missense_Mutation_p.H90Y			Q96D59	RN183_HUMAN	ring finger protein 183	90						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						AGGATGACATGGTGGGGCTCC	0.652000													4	122					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871040	170871040	+	Silent	SNP	A	A	G	rs10592950		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.chr6:170871040A>G	ENST00000392092.2	+	3	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	72	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567000													4	68					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	ENST00000391955.1	+	10	1282	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	BCAM_ENST00000270233.6_Missense_Mutation_p.S413F			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	413	Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.S413F(1)		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
GFAP	2670	broad.mit.edu	37	17	42989133	42989133	+	Missense_Mutation	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.chr17:42989133G>C	ENST00000253408.5	-	5	878	c.813C>G	c.(811-813)aaC>aaG	p.N271K	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.N271K|GFAP_ENST00000586793.1_Missense_Mutation_p.N271K	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	271	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GCAGCTCCGCGTTGCGGGCAG	0.662000													5	106					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	ENST00000342320.4	+	11	1525	c.1349A>G	c.(1348-1350)aAt>aGt	p.N450S	RBPJ_ENST00000507561.1_Missense_Mutation_p.N429S|RBPJ_ENST00000345843.3_Missense_Mutation_p.N449S|RBPJ_ENST00000342295.1_Missense_Mutation_p.N464S|RBPJ_ENST00000504907.1_3'UTR|RBPJ_ENST00000348160.4_Missense_Mutation_p.N451S|RBPJ_ENST00000355476.3_Missense_Mutation_p.N450S|RBPJ_ENST00000361572.6_Missense_Mutation_p.N464S			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	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	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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
TUBB8P7	0	broad.mit.edu	37	16	90161609	90161609	+	RNA	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	ENST00000564451.1	+	0	962				TUBB8P7_ENST00000567960.1_RNA																							TGATGGAGTCAGTGATGGACG	0.617000													3	44					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	ENST00000381178.1	-	3	334	c.316G>A	c.(316-318)Gag>Aag	p.E106K	TH_ENST00000333684.5_Missense_Mutation_p.E79K|TH_ENST00000352909.3_Missense_Mutation_p.E75K|TH_ENST00000381175.1_Missense_Mutation_p.E102K	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	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	ENST00000589042.1	-	79	23280	c.23056G>T	c.(23056-23058)Ggt>Tgt	p.G7686C	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6442C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7369C|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7369	Ig-like 59.						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	ENST00000397910.4	-	3	17714	c.17511C>A	c.(17509-17511)ccC>ccA	p.P5837P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	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	1.71407e-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	ENST00000274368.4	+	6	1160	c.738G>A	c.(736-738)ctG>ctA	p.L246L	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	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	0	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	ENST00000412448.1	-	0	793																											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	ENST00000423058.2	-	13	2409	c.2392A>T	c.(2392-2394)Aat>Tat	p.N798Y	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N770Y|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N787Y|SCN1A_ENST00000303395.4_Missense_Mutation_p.N798Y|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	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	ENST00000470056.1	+	13	2574	c.2414A>G	c.(2413-2415)gAt>gGt	p.D805G	GAPVD1_ENST00000312123.9_Missense_Mutation_p.D784G|GAPVD1_ENST00000495955.1_Missense_Mutation_p.D805G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D805G|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D784G|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D805G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D805G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D805G			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	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
ROR2	4920	broad.mit.edu	37	9	94486641	94486641	+	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.chr9:94486641G>A	ENST00000375708.3	-	9	2333	c.2135C>T	c.(2134-2136)cCt>cTt	p.P712L	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.P572L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	712	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCGGGGCAAGGCAGCACCTG	0.642000													4	55					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	ENST00000349699.2	-	15	1813	c.1770G>C	c.(1768-1770)aaG>aaC	p.K590N	DDX52_ENST00000394367.3_Missense_Mutation_p.K482N	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	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	ENST00000371589.4	+	8	1297	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	MAN1B1_ENST00000474902.1_Silent_p.L111L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	408					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	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
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	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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
POM121L9P	0	broad.mit.edu	37	22	24659578	24659578	+	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.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													6	35					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	ENST00000394329.3	+	1	1729	c.1716C>G	c.(1714-1716)ctC>ctG	p.L572L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	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
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	ENST00000409186.1	-	5	3265	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	PCDH20_ENST00000409204.4_Missense_Mutation_p.G387E			Q8N6Y1	PCD20_HUMAN	protocadherin 20	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
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	ENST00000329402.3	+	2	177	c.110G>A	c.(109-111)gGg>gAg	p.G37E	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	37						extracellular region	hormone activity			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	ENST00000286307.5	+	2	586	c.530A>G	c.(529-531)aAg>aGg	p.K177R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	177	SM 1.				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA 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
OR8U1	219417	broad.mit.edu	37	11	56143129	56143129	+	Silent	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.chr11:56143129A>T	ENST00000302270.1	+	1	30	c.30A>T	c.(28-30)acA>acT	p.T10T		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CCCAGGCGACAGAGTTTATTC	0.418000													4	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	ENST00000543196.2	-	8	1633	c.1428C>A	c.(1426-1428)aaC>aaA	p.N476K	GALNT6_ENST00000356317.3_Missense_Mutation_p.N476K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	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	2.41745e-05	1	1	0
TIE1	7075	broad.mit.edu	37	1	43783268	43783268	+	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.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	885	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTGACTTTGCGGGAGAACTG	0.502000													5	257					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53079464	53079464	+	Silent	SNP	C	C	T	rs73587538	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.chr8:53079464C>T	ENST00000276480.7	-	11	1835	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	384						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGCGGTGGTGCGGGTAGAGCC	0.557000													5	106					0	0	1	0	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	ENST00000269197.5	+	12	3853	c.3853A>G	c.(3853-3855)Atc>Gtc	p.I1285V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	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
PCDHA3	0	broad.mit.edu	37	5	140181052	140181052	+	Silent	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.chr5:140181052A>C	ENST00000522353.2	+	1	270	c.270A>C	c.(268-270)atA>atC	p.I90I	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.I90I|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATAGACCGCGAGG	0.592000													5	292					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	ENST00000388887.2	+	37	4112	c.3908A>G	c.(3907-3909)gAg>gGg	p.E1303G		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	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
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	ENST00000335847.4	-	5	511	c.410A>G	c.(409-411)gAc>gGc	p.D137G	CRISP1_ENST00000507853.1_Missense_Mutation_p.D137G|CRISP1_ENST00000355791.2_Missense_Mutation_p.D137G|CRISP1_ENST00000329411.5_Missense_Mutation_p.D137G|CRISP1_ENST00000536021.1_Missense_Mutation_p.D137G|CRISP1_ENST00000505118.1_Missense_Mutation_p.D137G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	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
FAM92A1P2	0	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	ENST00000502308.1	+	0	438					NR_003612.1																						ACGGGATGACCCCAAAGCAAC	0.418000													3	20					0.004672	0.00481146	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	ENST00000259782.4	+	11	1509	c.1413G>A	c.(1411-1413)acG>acA	p.T471T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	471					cell adhesion|immune response|Malpighian tubule morphogenesis|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	ENST00000298622.4	+	17	2274		c.e17+1		JAKMIP3_ENST00000477275.1_Splice_Site	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											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	3.07431e-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	ENST00000546361.2	-	8	1159	c.1008A>G	c.(1006-1008)caA>caG	p.Q336Q	CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	336	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.Q336Q(2)		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
AC008103.5	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	ENST00000412938.1	+	0	3297																											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	ENST00000449956.2	+	13	1708	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	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	ENST00000324288.8	+	12	2815	c.2682G>A	c.(2680-2682)gcG>gcA	p.A894A	CIITA_ENST00000381835.5_Silent_p.A310A|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	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	activating transcription factor binding|ATP 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	ENST00000343694.3	+	12	1353	c.1280_splice	c.e12-1	p.R427_splice	RBPJL_ENST00000372741.3_Splice_Site_p.E431_splice|RBPJL_ENST00000372743.1_Intron|RBPJL_ENST00000464504.1_3'UTR	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	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	ENST00000382438.5	-	2	1496	c.861C>G	c.(859-861)cgC>cgG	p.R287R		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	287					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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	ENST00000449131.2	+	4	417	c.331T>C	c.(331-333)Ttg>Ctg	p.L111L	BEST1_ENST00000435278.2_Silent_p.L171L|BEST1_ENST00000378042.3_Silent_p.L111L|BEST1_ENST00000378043.4_Silent_p.L171L|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000526988.1_Silent_p.L65L	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	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	ENST00000599180.1	+	2	741	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	FFAR2_ENST00000246549.2_Missense_Mutation_p.V221M|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	221						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			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
C6orf165	154313	broad.mit.edu	37	6	88125415	88125415	+	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.chr6:88125415G>A	ENST00000507897.1	+	5	378	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E99K			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	99										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GGAATTTCTCGAAGAACATCA	0.363000													3	48					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	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	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_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	ENST00000397572.2	-	5	1083	c.284C>T	c.(283-285)cCa>cTa	p.P95L	GJA9_ENST00000454994.2_3'UTR|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000433671.2_RNA	NM_012333.4	NP_036465.2	Q99417	MYCBP_HUMAN	MYC binding protein	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	ENST00000441037.2	+	16	2177		c.e16-1		AGBL1_ENST00000421325.2_Splice_Site|AGBL1_ENST00000389298.3_Splice_Site	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1						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
GOLGA8EP	0	broad.mit.edu	37	15	23441125	23441125	+	RNA	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.chr15:23441125T>A	ENST00000526079.1	+	0	1204					NR_027407.1|NR_033350.1																						AAATATCGGGTAGAGACGCTG	0.567000													9	282					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	ENST00000337907.3	-	3	706_707	c.72_73delGA	c.(70-75)gaaafs	p.EK24fs	RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	24					multicellular organismal development|NLS-bearing substrate import into nucleus	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	---	---	---	---					
GTF2IRD1P1	0	broad.mit.edu	37	7	66304731	66304731	+	RNA	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.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1																						TTTCTTTCCCttttttttttt	0.512													2	4	---	---	---	---					
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	ENST00000314191.2	-	5	552_553	c.496_497insA	c.(496-498)accfs	p.T166fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.T166fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	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	ENST00000308406.5	+	5	2014	c.1628delG	c.(1627-1629)cgfs	p.R543fs	MAPK7_ENST00000299612.7_Frame_Shift_Del_p.R404fs|MAPK7_ENST00000395602.4_Frame_Shift_Del_p.R543fs|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Frame_Shift_Del_p.R543fs	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	543	Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|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	---	---	---	---					
RBBP8NL	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	ENST00000252998.1	-	8	739	c.583delA	c.(583-585)tcfs	p.I195fs		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		CCTGGGGAGATTTTGGCCACT	0.677													7	219	---	---	---	---