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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	C	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr4:52777312T>C	uc011bzo.2	+	8	831	c.824T>C	c.(823-825)cTt>cCt	p.L275P	DCUN1D4_uc003gze.3_Missense_Mutation_p.L231P|DCUN1D4_uc003gzf.3_Intron|DCUN1D4_uc011bzn.2_Missense_Mutation_p.L171P|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Intron	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	231	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383													0	1.15E-01	0	0	0	156	3
ZBTB24	9841	broad.mit.edu	37	6	109802299	109802299	+	Missense_Mutation	SNP	T	C	C	rs141429160		TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:109802299T>C	uc003ptl.1	-	1	1099	c.931A>G	c.(931-933)Atc>Gtc	p.I311V	ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.I311V|ZBTB24_uc010kdt.1_Non-coding_Transcript|ZBTB24_uc003ptm.3_Missense_Mutation_p.I311V	NM_014797	NP_055612	O43167	ZBT24_HUMAN	Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTCTGGTGGATTGCTAAAAAG	0.458													0	4.78E-02	0	0	0	268	7
SFMBT2	57713	broad.mit.edu	37	10	7412244	7412244	+	Splice_Site	SNP	T	C	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr10:7412244T>C	uc009xio.2	-	3	286	c.195_splice	c.e3+1	p.H65_splice	SFMBT2_uc001ijn.2_Splice_Site_p.H65_splice|SFMBT2_uc010qay.2_Splice_Site_p.H65_splice|SFMBT2_uc001ijo.2_Splice_Site_p.H65_splice	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	65					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTTACATACGTGTTTGAATGA	0.473													0	9.10E-03	0	0	0	108	3
OR10H2	26538	broad.mit.edu	37	19	15839268	15839268	+	Missense_Mutation	SNP	C	T	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:15839268C>T	uc002nbm.2	+	0	435	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139W(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGAGCCCACGGGGCTGCGC	0.637													0	1.48E-02	0	0	0	89	4
ZNF267	10308	broad.mit.edu	37	16	31925925	31925925	+	Missense_Mutation	SNP	A	G	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:31925925A>G	uc002ecs.4	+	3	564	c.355A>G	c.(355-357)Agg>Ggg	p.R119G		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	119					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAGGTGGAAAAGGGAGGAGTG	0.378													0	1.15E-01	0	0	0	142	3
ZBTB24	9841	broad.mit.edu	37	6	109787521	109787521	+	Missense_Mutation	SNP	G	C	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:109787521G>C	uc003ptl.1	-	6	1795	c.1627C>G	c.(1627-1629)Caa>Gaa	p.Q543E	MICAL1_uc011eaq.2_5'Flank|ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.Q487E|ZBTB24_uc010kdt.1_Non-coding_Transcript	NM_014797	NP_055612	O43167	ZBT24_HUMAN	Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GTAGAGAGTTGATATGGCTGT	0.448													0	3.81E-02	0	0	0	177	5
OR10K1	391109	broad.mit.edu	37	1	158436162	158436162	+	Missense_Mutation	SNP	G	A	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:158436162G>A	uc010pij.2	+	0	811	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCAAGCCAAGACACCCTAAT	0.418													0	2.16E-02	0	0	0	137	4
ECE1	1889	broad.mit.edu	37	1	21573852	21573852	+	Missense_Mutation	SNP	A	G	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:21573852A>G	uc001bek.2	-	8	1100	c.1025T>C	c.(1024-1026)tTg>tCg	p.L342S	ECE1_uc001bem.2_Missense_Mutation_p.L326S|ECE1_uc001bej.2_Missense_Mutation_p.L330S|ECE1_uc001bei.2_Missense_Mutation_p.L339S|ECE1_uc010odl.1_Missense_Mutation_p.L342S|ECE1_uc009vqa.1_Missense_Mutation_p.L342S	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	342					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGCGGGTGCCAAGGTCTGCAA	0.532													0	1.48E-02	0	0	0	96	3
RMND1	55005	broad.mit.edu	37	6	151726916	151726916	+	Missense_Mutation	SNP	T	G	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:151726916T>G	uc003qoi.2	-	10	1436	c.1256A>C	c.(1255-1257)cAc>cCc	p.H419P	RMND1_uc011eeq.1_Missense_Mutation_p.H208P	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA.	419										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CTCATTCAGGTGATTCCGCAT	0.373													0	6.92E-02	0	0	0	43	10
GRIA4	2893	broad.mit.edu	37	11	105795388	105795388	+	Silent	SNP	C	T	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:105795388C>T	uc001pix.2	+	11	2186	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	GRIA4_uc001piw.2_Silent_p.D580D	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	580					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGCCAGAGGACGGAAAGGAAG	0.473													0	5.82E-02	0	0	0	53	9
SPICE1	152185	broad.mit.edu	37	3	113207801	113207801	+	Missense_Mutation	SNP	T	C	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr3:113207801T>C	uc003eag.4	-	6	893	c.602A>G	c.(601-603)aAt>aGt	p.N201S	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.N97S	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	201					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CCTGTCTGTATTCGTGTTAGA	0.358													0	1.15E-01	0	0	0	153	3
SRRM2	23524	broad.mit.edu	37	16	2807800	2807800	+	Missense_Mutation	SNP	G	T	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:2807800G>T	uc002crk.3	+	3	918	c.369G>T	c.(367-369)caG>caT	p.Q123H	SRRM2_uc002crj.1_Missense_Mutation_p.Q27H|SRRM2_uc002crl.1_Missense_Mutation_p.Q123H|SRRM2_uc010bsu.1_Missense_Mutation_p.Q27H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	123						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGACTCACCAgttggcagaat	0.443													2.03E-25	1.25E-01	1.76E-25	0	1	97	42
RALGAPA2	57186	broad.mit.edu	37	20	20621386	20621386	+	Missense_Mutation	SNP	G	T	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr20:20621386G>T	uc002wrz.3	-	5	652	c.509C>A	c.(508-510)aCa>aAa	p.T170K	RALGAPA2_uc010zsg.2_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	170					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity	p.T170T(1)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGTCTCCAGTGTGCAAGGGCC	0.468													1.18E-01	1.15E-01	1.15E-01	0	1	116	3
BAP1	8314	broad.mit.edu	37	3	52443600	52443600	+	Missense_Mutation	SNP	T	C	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr3:52443600T>C	uc003ddx.3	-	2	207	c.92A>G	c.(91-93)gAg>gGg	p.E31G	PHF7_uc003ddy.3_5'Flank|PHF7_uc003ddz.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	31					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E31A(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GTCGTAGATCTCCTCCACTTG	0.617			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							0	5.82E-02	0	0	0	493	9
DNAH6	1768	broad.mit.edu	37	2	84811124	84811124	+	Splice_Site	SNP	T	A	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:84811124T>A	uc010fgb.3	+	15	2367	c.2230_splice	c.e15-1	p.I744_splice	DNAH6_uc002soo.3_Splice_Site_p.I323_splice|DNAH6_uc002sop.3_Splice_Site_p.I323_splice	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	744	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCCATTTAGATTGAAAGCCTT	0.373													0	6.24E-02	0	0	0	71	18
BTBD7	55727	broad.mit.edu	37	14	93717850	93717850	+	Missense_Mutation	SNP	T	C	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr14:93717850T>C	uc001ybo.3	-	7	2227	c.1901A>G	c.(1900-1902)aAc>aGc	p.N634S	BTBD7_uc010aur.3_Missense_Mutation_p.N159S|BTBD7_uc010two.2_Missense_Mutation_p.N454S|BTBD7_uc001ybp.3_Missense_Mutation_p.N283S	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	634										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTGACTGGTTGCTGCTGAT	0.418													0	1.25E-01	0	0	0	239	40
COL9A1	1297	broad.mit.edu	37	6	70964879	70964879	+	Missense_Mutation	SNP	C	T	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:70964879C>T	uc003pfg.4	-	22	1744	c.1585G>A	c.(1585-1587)Ggt>Agt	p.G529S	COL9A1_uc003pfe.4_Missense_Mutation_p.G102S|COL9A1_uc003pff.4_Missense_Mutation_p.G286S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	529	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGGAGACCAGGAATTCCT	0.423													0	6.95E-02	0	0	0	218	33
CDK12	51755	broad.mit.edu	37	17	37682293	37682293	+	Missense_Mutation	SNP	G	A	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr17:37682293G>A	uc010cvv.3	+	12	4070	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K	CDK12_uc010wef.1_Missense_Mutation_p.E1161K|CDK12_uc002hrw.4_Missense_Mutation_p.E1162K	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1162					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGCCCTGACGGAAGCTACTTC	0.567			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			0	8.09E-02	0	0	0	38	12
MAGEB18	286514	broad.mit.edu	37	X	26157885	26157885	+	Missense_Mutation	SNP	C	A	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrX:26157885C>A	uc022bub.1	+	0	783	c.783C>A	c.(781-783)aaC>aaA	p.N261K	MAGEB18_uc004dbq.2_Missense_Mutation_p.N261K	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	261	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGTGCCCAACAGTGATCCTC	0.488													1.02E-02	9.10E-03	9.10E-03	0	1	44	3
SPR	6697	broad.mit.edu	37	2	73115548	73115548	+	Missense_Mutation	SNP	G	A	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:73115548G>A	uc002sik.2	+	1	460	c.410G>A	c.(409-411)aGc>aAc	p.S137N		NM_003124	NP_003115	P35270	SPRE_HUMAN	Homo sapiens sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (SPR), mRNA.	137					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	NADP binding|aldo-keto reductase (NADP) activity|sepiapterin reductase activity			lung(4)|ovary(2)	6						CTGACTTCCAGCGTCCTGAAG	0.562											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	1.08E-01	0	0	0	102	25
HEATR7B2	133558	broad.mit.edu	37	5	41065518	41065518	+	Missense_Mutation	SNP	C	A	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr5:41065518C>A	uc003jmj.4	-	3	766	c.276G>T	c.(274-276)atG>atT	p.M92I	HEATR7B2_uc021xxt.1_Missense_Mutation_p.M92I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	92							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GTACTTCATACATCACAGAGT	0.418													1.18E-01	1.15E-01	1.15E-01	0	1	79	3
HSP90B1	7184	broad.mit.edu	37	12	104336889	104336889	+	Missense_Mutation	SNP	A	G	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr12:104336889A>G	uc001tkb.1	+	12	1787	c.1682A>G	c.(1681-1683)aAg>aGg	p.K561R	HSP90B1_uc010swg.1_Missense_Mutation_p.K226R|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	561					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTTCTGAAAAAGGGCTATGAA	0.418													0	1.48E-02	0	0	0	223	4
MYBPC2	4606	broad.mit.edu	37	19	50940753	50940753	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:50940753C>T	uc002psf.2	+	5	538	c.487C>T	c.(487-489)Cag>Tag	p.Q163*		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	163					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGCCTCTGGGCAGAGTCTAGA	0.587													0	2.94E-02	0	0	0	11	5
OR51M1	390059	broad.mit.edu	37	11	5410737	5410737	+	Missense_Mutation	SNP	C	T	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:5410737C>T	uc010qzc.2	+	0	131	c.109C>T	c.(109-111)Cac>Tac	p.H37Y	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	37						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCATCAAACACTGGATTTT	0.423													0	5.82E-02	0	0	0	144	10
MEPCE	56257	broad.mit.edu	37	7	100028454	100028454	+	Missense_Mutation	SNP	G	C	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr7:100028454G>C	uc003uuw.3	+	0	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Intron|MEPCE_uc022aio.1_Intron|MEPCE_uc003uuv.3_5'UTR	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	271							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647													0	2.16E-02	0	0	0	289	5
LOC646214	646214	broad.mit.edu	37	15	21936443	21936443	+	RNA	SNP	C	T	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr15:21936443C>T	uc010tzj.1	-	0		c.4297G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TCATTTGCTTCTTTCATTCAG	0.318													0	1.48E-02	0	0	0	19	5
PRDM9	56979	broad.mit.edu	37	5	23524563	23524563	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr5:23524563T>A	uc003jgo.3	+	9	1253	c.1071T>A	c.(1069-1071)taT>taA	p.Y357*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	357	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGTCTGGTATGGGGATGAAT	0.507										HNSCC(3;0.000094)			0	8.09E-02	0	0	0	128	10
