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
PGRMC1	10857	broad.mit.edu	37	X	118370561	118370561	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:118370561C>T	ENST00000217971.7	+	1	346	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	PGRMC1_ENST00000535419.1_Missense_Mutation_p.R79W	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	79	Cytochrome b5 heme-binding.					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						CGCCGAGCTGCGGCGCTTCGA	0.711000													10	20					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505849	195505849	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:195505849G>A	ENST00000463781.3	-	2	13061	c.12602C>T	c.(12601-12603)gCa>gTa	p.A4201V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A4201V|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	964					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCTGAGGAAGT	0.592000													5	5					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18725224	18725224	+	Missense_Mutation	SNP	T	T	C	rs62636654		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr8:18725224T>C	ENST00000440756.2	-	4	1696	c.1594A>G	c.(1594-1596)Atc>Gtc	p.I532V	PSD3_ENST00000523619.1_Missense_Mutation_p.I467V|PSD3_ENST00000327040.8_Missense_Mutation_p.I532V			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	532					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCGTGTAGATGGAGTCGCTG	0.507000													71	103					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2867631	2867631	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:2867631G>A	ENST00000545496.1	-	7	934	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	ARSE_ENST00000540563.1_Missense_Mutation_p.R145C|ARSE_ENST00000381134.3_Missense_Mutation_p.R190C			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	190					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGTTGACACGCTTCTCTGAG	0.527000													7	70					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80746270	80746270	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr6:80746270C>A	ENST00000509894.1	+	17	2829	c.2000C>A	c.(1999-2001)gCa>gAa	p.A667E	TTK_ENST00000230510.3_Missense_Mutation_p.A667E|TTK_ENST00000369798.2_Missense_Mutation_p.A668E			P33981	TTK_HUMAN	TTK protein kinase	668	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTGGGATTGCAAACCAAATG	0.338000													7	186					0.00198382	0.0021438	1	1	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													4	5					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36671795	36671795	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr8:36671795A>G	ENST00000399881.3	+	8	840	c.803A>G	c.(802-804)tAc>tGc	p.Y268C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	268						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAGTCAATTTACCTGGTCATG	0.433000													8	61					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3661952	3661952	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:3661952G>T	ENST00000335312.3	-	4	355	c.267C>A	c.(265-267)taC>taA	p.Y89*	PIP5K1C_ENST00000589578.1_Nonsense_Mutation_p.Y89*|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Nonsense_Mutation_p.Y89*|PIP5K1C_ENST00000537021.1_Nonsense_Mutation_p.Y89*	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	89	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	p.Y89*(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCCACGGTGTAGCCGATGC	0.682000													4	20					1	1	1	1	0
OR4D10	390197	broad.mit.edu	37	11	59245574	59245574	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:59245574A>T	ENST00000530162.1	+	1	729	c.672A>T	c.(670-672)ttA>ttT	p.L224F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATTATCATTACCCAAGTCTC	0.478000													5	160					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107224323	107224323	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:107224323T>C	ENST00000282251.5	-	13	2039	c.2012A>G	c.(2011-2013)cAa>cGa	p.Q671R	CWF19L2_ENST00000433523.1_Missense_Mutation_p.Q671R	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	671							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTTTTCCATTTGTGCAGCAAG	0.393000													50	75					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164776970	164776970	+	Missense_Mutation	SNP	A	A	G	rs148511215	by1000genomes	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:164776970A>G	ENST00000264382.3	-	11	1326	c.1264T>C	c.(1264-1266)Tat>Cat	p.Y422H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	422	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATGATGACATATTTCTGTCCA	0.323000										HNSCC(35;0.089)			13	94					0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21333865	21333865	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:21333865G>A	ENST00000359039.4	-	1	1514	c.994C>T	c.(994-996)Cca>Tca	p.P332S	KLHL9_ENST00000537938.1_Missense_Mutation_p.P264S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	332					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCATCCATTGGGGCTAAAGAT	0.418000													84	133					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135038195	135038195	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr10:135038195C>T	ENST00000304613.3	+	30	5072	c.5051C>T	c.(5050-5052)gCg>gTg	p.A1684V	KNDC1_ENST00000368572.2_Missense_Mutation_p.A1686V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1684	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGGTGCACGCGTTCCAGGAG	0.597000													23	51					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118016978	118016978	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:118016978G>A	ENST00000425217.1	-	7	1238	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M	KSR2_ENST00000302438.5_Missense_Mutation_p.T121M|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.T424M	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	424					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACTGTGCACGTCTGAGACAT	0.468000													7	41					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299210	62299210	+	Silent	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:62299210C>T	ENST00000378024.4	-	5	2953	c.2679G>A	c.(2677-2679)gaG>gaA	p.E893E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	893					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTGGGCCCTCTGCTTTGA	0.517000													256	310					0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105367	60105367	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:60105367G>T	ENST00000300182.4	+	2	366	c.301G>T	c.(301-303)Gat>Tat	p.D101Y		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	101						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TCTTTCTTATGATTATCATTC	0.403000													13	185					1	1	1	1	0
NAIP	4671	broad.mit.edu	37	5	70308387	70308387	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr5:70308387C>T	ENST00000517649.1	-	4	646	c.356G>A	c.(355-357)aGg>aAg	p.R119K	NAIP_ENST00000508426.2_Missense_Mutation_p.R119K|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.R119K	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	119					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGGATGAAACCTCTTGTGGTC	0.473000													63	97					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162577528	162577528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr4:162577528C>T	ENST00000306100.5	-	7	1282	c.846G>A	c.(844-846)tgG>tgA	p.W282*	FSTL5_ENST00000427802.2_Nonsense_Mutation_p.W281*|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.W281*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.W281*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	282	Ig-like 1.					extracellular region	calcium ion binding	p.W282*(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTTCCTTTTCCAGATAATGG	0.353000													18	97					0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51411835	51411835	+	Splice_Site	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:51411835C>T	ENST00000324041.1	-	3	474	c.475_splice	c.e3+1	p.G159_splice	KLK4_ENST00000431178.2_Splice_Site_p.G110_splice	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	159	Peptidase S1.		G -> D (in dbSNP:rs34626614).		proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGAGCTCACCGTTCGCCAGC	0.637000													8	75					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152521900	152521900	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:152521900T>A	ENST00000427231.2	-	42	5387	c.5185A>T	c.(5185-5187)Atg>Ttg	p.M1729L	NEB_ENST00000603639.1_Missense_Mutation_p.M1729L|NEB_ENST00000397345.3_Missense_Mutation_p.M1729L|NEB_ENST00000604864.1_Missense_Mutation_p.M1729L|NEB_ENST00000409198.1_Missense_Mutation_p.M1729L|NEB_ENST00000172853.10_Missense_Mutation_p.M1729L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1729					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTGTCCATGGCGTAAGTG	0.507000													30	38					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2913224	2913224	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr18:2913224C>T	ENST00000254528.3	+	8	3143	c.2984C>T	c.(2983-2985)cCt>cTt	p.P995L	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	995	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TACCACCGCCCTCCAGGAGCT	0.632000													4	75					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2																						GCCCATCACCGCGACCATGGC	0.582000													5	76					2.0095e-06	2.24394e-06	1	1	0
SELE	6401	broad.mit.edu	37	1	169698637	169698637	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:169698637G>A	ENST00000333360.7	-	6	1032	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SELE_ENST00000367779.4_Missense_Mutation_p.T298M|SELE_ENST00000367777.1_Missense_Mutation_p.T298M|SELE_ENST00000367780.4_Missense_Mutation_p.T236M|SELE_ENST00000367775.1_Missense_Mutation_p.T236M|SELE_ENST00000367782.4_Missense_Mutation_p.T298M|SELE_ENST00000367776.1_Missense_Mutation_p.T298M|SELE_ENST00000367774.1_Missense_Mutation_p.T298M|SELE_ENST00000367781.4_Missense_Mutation_p.T298M|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	298	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACCTTTACACGTTGGCTTCTC	0.443000													80	93					0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239051515	239051515	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:239051515G>A	ENST00000409223.1	+	3	957	c.850G>A	c.(850-852)Gca>Aca	p.A284T	KLHL30_ENST00000305959.4_Missense_Mutation_p.A266T			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	284										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGAGGAGGAGGCAGGTGAGGA	0.672000													4	15					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142660120	142660120	+	RNA	SNP	C	C	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:142660120C>A	ENST00000369381.2	-	0	2507				RP11-417J8.3_ENST00000426408.1_lincRNA																							GAATTTCAGCCAAAGTGGCCA	0.438000													6	22					0.00198382	0.0021438	1	1	0
CIZ1	25792	broad.mit.edu	37	9	130952718	130952718	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:130952718A>G	ENST00000538431.1	-	3	423	c.176T>C	c.(175-177)cTc>cCc	p.L59P	CIZ1_ENST00000372954.1_Missense_Mutation_p.L59P|CIZ1_ENST00000372938.5_Missense_Mutation_p.L59P|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000357558.5_Missense_Mutation_p.L59P|CIZ1_ENST00000325721.8_Missense_Mutation_p.L59P|CIZ1_ENST00000277465.4_Missense_Mutation_p.L59P|CIZ1_ENST00000393608.1_Missense_Mutation_p.L59P|CIZ1_ENST00000372948.3_Missense_Mutation_p.L59P|CIZ1_ENST00000541172.1_Intron	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	59						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCGGGGGGAGCCCCCTGTG	0.582000													5	26					0	0	1	0	0
RP11-377D9.3	0	broad.mit.edu	37	12	13155006	13155006	+	RNA	SNP	G	G	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:13155006G>C	ENST00000543321.1	+	0	31				HTR7P1_ENST00000535469.1_RNA																							CGTACCCTATGAGGCAGAAGG	0.483000													4	14					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36302867	36302867	+	Silent	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:36302867C>T	ENST00000301175.3	-	5	839	c.822G>A	c.(820-822)ggG>ggA	p.G274G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	274					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTTACCTGCCCAGAGTCCA	0.597000													23	13					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805614	102805614	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:102805614C>A	ENST00000264257.2	+	3	263	c.137C>A	c.(136-138)cCc>cAc	p.P46H	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P46H|IL1RL2_ENST00000481806.1_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	46	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ACATTCCCTCCCATAACATCT	0.378000													9	144					0.00621372	0.00660824	1	1	0
CYP1A1	1543	broad.mit.edu	37	15	75012968	75012968	+	Silent	SNP	G	G	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr15:75012968G>C	ENST00000379727.3	-	7	1599	c.1401C>G	c.(1399-1401)gtC>gtG	p.V467V	CYP1A1_ENST00000395048.2_Silent_p.V467V|CYP1A1_ENST00000395049.4_Silent_p.V438V|CYP1A1_ENST00000567032.1_Silent_p.V467V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	467					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGAAGAGAAAGACCTCCCAGC	0.542000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				35	138					0	0	1	0	0
PDHA1	5160	broad.mit.edu	37	X	19368118	19368118	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:19368118G>C	ENST00000379806.5	+	4	440	c.295G>C	c.(295-297)Ggg>Cgg	p.G99R	PDHA1_ENST00000379805.3_Missense_Mutation_p.G61R|PDHA1_ENST00000545074.1_Missense_Mutation_p.G61R|PDHA1_ENST00000422285.2_Missense_Mutation_p.G61R|PDHA1_ENST00000540249.1_Missense_Mutation_p.G61R	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	61					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CAGGGAGGATGGGCTCAAATA	0.453000													74	95					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117308781	117308781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:117308781G>T	ENST00000321322.6	-	25	4443	c.4442C>A	c.(4441-4443)tCg>tAg	p.S1481*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.S1211*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1421	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTTGTCCACCGAGTACTGTAG	0.612000													3	62					1	1	1	1	0
MAGEB2	4113	broad.mit.edu	37	X	30237371	30237371	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:30237371A>T	ENST00000378988.4	+	2	775	c.674A>T	c.(673-675)gAa>gTa	p.E225V		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	225	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGATCTGGGAATTCCTGAAT	0.483000													14	59					0	0	1	0	0
MIR498	0	broad.mit.edu	37	19	54177516	54177516	+	RNA	SNP	A	A	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:54177516A>G	ENST00000385134.1	+	0	66					NR_030182.1																						CTATAACTGGATGAAAAGCAC	0.443000													86	21					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40590181	40590181	+	Missense_Mutation	SNP	C	C	T	rs75547980		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr21:40590181C>T	ENST00000342449.3	-	31	3634	c.3556G>A	c.(3556-3558)Gca>Aca	p.A1186T	BRWD1_ENST00000333229.2_Missense_Mutation_p.A1186T|BRWD1_ENST00000380800.3_Missense_Mutation_p.A1186T|BRWD1-IT1_ENST00000435608.1_RNA	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1186	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAGGGCCTGCAAAAGCTGCT	0.368000													23	136					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194170983	194170983	+	Silent	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:194170983G>A	ENST00000439040.1	-	11	1652	c.861C>T	c.(859-861)acC>acT	p.T287T	ATP13A3_ENST00000256031.4_Silent_p.T287T			Q9H7F0	AT133_HUMAN	ATPase type 13A3	287					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCACAAGGTCGGTAGAAAAGA	0.343000													4	83					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521763	39521763	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr17:39521763C>T	ENST00000251646.3	-	4	680	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	211	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCACCTCCACGTTGAGGCGG	0.522000													26	35					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76382215	76382215	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr13:76382215G>A	ENST00000357063.3	+	11	3212	c.1952G>A	c.(1951-1953)gGa>gAa	p.G651E	LMO7_ENST00000377534.3_Missense_Mutation_p.G651E|LMO7_ENST00000321797.8_Missense_Mutation_p.G366E|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.G366E|LMO7_ENST00000341547.4_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	651						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGAAACTGGGAACTACCGTG	0.498000													25	54					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70387552	70387552	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:70387552G>T	ENST00000374051.3	+	6	1867	c.1545G>T	c.(1543-1545)atG>atT	p.M515I	NLGN3_ENST00000536169.1_Missense_Mutation_p.M495I|NLGN3_ENST00000358741.3_Missense_Mutation_p.M535I|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	535					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGGTTCCTATGGTAGGCCCCA	0.498000													11	269					1.08611e-07	1.23338e-07	1	1	0
HRNR	388697	broad.mit.edu	37	1	152193228	152193228	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:152193228A>G	ENST00000368801.2	-	3	952	c.877T>C	c.(877-879)Tct>Cct	p.S293P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	293					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCCAAAGACTGACGGGAA	0.607000													13	301					0	0	1	0	0
INO80B	83444	broad.mit.edu	37	2	74684817	74684817	+	Silent	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:74684817G>A	ENST00000233331.7	+	5	991	c.897G>A	c.(895-897)cgG>cgA	p.R299R		NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	299					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						TGTCTCAGCGGCCATCCCCCT	0.716000													3	36					0	0	1	0	0
LAMP2	0	broad.mit.edu	37	X	119581704	119581704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:119581704G>A	ENST00000371335.4	-	5	869	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	LAMP2_ENST00000200639.4_Nonsense_Mutation_p.Q245*|LAMP2_ENST00000434600.2_Nonsense_Mutation_p.Q245*|LAMP2_ENST00000540603.1_Nonsense_Mutation_p.Q198*|LAMP2_ENST00000538785.1_Nonsense_Mutation_p.Q134*	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	245	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						ACCTTATCCTGAGTGATGTTC	0.403000													19	238					0	0	1	0	0
ELL	8178	broad.mit.edu	37	19	18557617	18557617	+	Silent	SNP	G	G	A	rs73923115	byFrequency	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:18557617G>A	ENST00000262809.4	-	9	1544	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	491					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TGCAGGTTCCGTTTAAACCTA	0.572000			T	MLL	AL								13	50					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77301816	77301816	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:77301816T>G	ENST00000341514.6	+	23	4407	c.4252T>G	c.(4252-4254)Tat>Gat	p.Y1418D	ATP7A_ENST00000350425.4_Missense_Mutation_p.Y421D|ATP7A_ENST00000343533.5_Missense_Mutation_p.Y1340D	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1418					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTACGAGAGTTATGAACTGCC	0.413000													15	343					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	rs121913503		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr15:90631838C>A	ENST00000330062.3	-	4	628	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42M|IDH2_ENST00000540499.2_Missense_Mutation_p.R120M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632000			M		GBM								63	76					7.05995e-25	8.44673e-25	1	1	0
SIT1	27240	broad.mit.edu	37	9	35650242	35650242	+	Splice_Site	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:35650242C>T	ENST00000259608.3	-	4	382	c.295_splice	c.e4-1	p.G99_splice	SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	99					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGACAGCCGTCCTGGGACGGG	0.627000													52	75					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66436644	66436644	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr16:66436644G>A	ENST00000341529.3	+	12	2075	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	CDH5_ENST00000539168.1_Missense_Mutation_p.V82I	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	643					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGAGCAGCTGGTCACCTACGA	0.711000													5	16					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602864	5602864	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:5602864G>A	ENST00000345043.2	+	1	758	c.758G>A	c.(757-759)cGc>cAc	p.R253H	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGATGCCCGCTCCAAGGCC	0.507000													37	307					0	0	1	0	0
LINC00971	0	broad.mit.edu	37	3	84741480	84741480	+	RNA	DEL	A	A	-	rs140144338		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1																						CCTGTCCCAGAAAAAAAAAAA	0.388													6	7	---	---	---	---					
RP11-615J4.3	0	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													4	3	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346	byFrequency	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr4:1388441_1388442insCG	ENST00000324803.4	+	1	3102_3103	c.142_143insCG	c.(142-144)gccfs	p.A48fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644													9	691	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14252331	14252334	+	RNA	DEL	TTCA	TTCA	-	rs5789832		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:14252331_14252334delTTCA	ENST00000310358.7	+	0	1360							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ccttccttccttcattttttcGTG	0.475													4	3	---	---	---	---					
RP11-314D7.4	0	broad.mit.edu	37	12	74151336	74151337	+	RNA	INS	-	-	GAAG	rs143357657	by1000genomes	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:74151336_74151337insGAAG	ENST00000549058.1	-	0	97																											GAGTGAGTTATgaaggaaggaa	0.446													3	2	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42795241	42795242	+	Frame_Shift_Ins	INS	-	-	GCCCCCT			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:42795241_42795242insGCCCCCT	ENST00000572681.2	+	11	5116_5117	c.5048_5049insGCCCCCT	c.(5047-5049)gccfs	p.A1683fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.A774fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A774fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGGCCCCTGCGCCCCCTGCTG	0.698			"""Mis, F, S"""		oligodendroglioma								10	27	---	---	---	---					
BCOR	54880	broad.mit.edu	37	X	39933875	39933875	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:39933875delC	ENST00000342274.4	-	4	1086	c.724delG	c.(724-726)agfs	p.E242fs	BCOR_ENST00000378455.4_Frame_Shift_Del_p.E242fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.E242fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.E242fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	242					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGAAAGCGCTCCCCATTGGTG	0.577			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						42	68	---	---	---	---