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
GATA6	2627	broad.mit.edu	37	18	19780673	19780673	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr18:19780673G>C	uc002ktt.1	+	6	1940	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	GATA6_uc002ktu.1_Missense_Mutation_p.E559Q	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	559					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CGAGAACAGCGAGCTCAAGTA	0.627000													7	136					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr4:146059006G>A	uc003ika.4	-	20	2864	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													5	175					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212220678	212220678	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr1:212220678G>A	uc009xdc.3	+	4	693	c.379G>A	c.(379-381)Gta>Ata	p.V127I	DTL_uc010ptb.2_Missense_Mutation_p.V85I|DTL_uc001hiz.4_5'UTR	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	127					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		ATTTTGGGACGTAAAAGCTGG	0.388000													5	192					0	0	1	0	0
RPL10A	4736	broad.mit.edu	37	6	35436757	35436757	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr6:35436757G>T	uc003okp.1	+	2	148	c.114G>T	c.(112-114)ttG>ttT	p.L38F	RPL10A_uc003oks.1_5'UTR	NM_007104	NP_009035	P62906	RL10A_HUMAN	Homo sapiens ribosomal protein L10a (RPL10A), mRNA.	38					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						AGATCAGCTTGAAGAACTATG	0.657000													30	43					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19562584	19562584	+	Silent	SNP	A	A	G			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr16:19562584A>G	uc002dgk.4	+	14	3357	c.2967A>G	c.(2965-2967)tcA>tcG	p.S989S	CCP110_uc002dgl.4_3'UTR	NM_014711	NP_055526	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 2, mRNA.	0					G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GACAACATTCATTAGGATAAA	0.368000													4	183					0	0	1	0	0
SMCR7	125170	broad.mit.edu	37	17	18167971	18167971	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr17:18167971C>A	uc010vxq.2	+	3	1317	c.1291C>A	c.(1291-1293)Cac>Aac	p.H431N	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.H420N	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	420						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CCTGCCCTGCCACTTCAACCC	0.622000													4	64					0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1060250	1060250	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr10:1060250G>A	uc001ift.3	+	14	1677	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	GTPBP4_uc010qad.2_Missense_Mutation_p.D420N|GTPBP4_uc010qae.2_Missense_Mutation_p.D489N	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	536					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.D536N(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CGATAAAGACGATGTGAGTGT	0.443000													51	73					0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18604302	18604302	+	Silent	SNP	C	C	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr22:18604302C>T	uc002znw.1	+	0	429	c.132C>T	c.(130-132)tgC>tgT	p.C44C	TUBA8_uc002znv.2_Silent_p.C20C|TUBA8_uc021wkt.1_5'UTR	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	20					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GCAATGCCTGCTGGGAGCTCT	0.562000													52	64					0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49366676	49366676	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr20:49366676G>A	uc002xvo.3	+	2	1013	c.770G>A	c.(769-771)aGg>aAg	p.R257K		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	257					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AATGTTGTGAGGAACAGTCGG	0.473000													4	209					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124361673	124361673	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr8:124361673G>A	uc003yqh.4	-	13	1766	c.1658C>T	c.(1657-1659)tCc>tTc	p.S553F	ATAD2_uc011lii.2_Missense_Mutation_p.S344F|ATAD2_uc003yqi.4_Intron|ATAD2_uc003yqj.3_Missense_Mutation_p.S553F|Mir_548_uc022ban.1_5'Flank	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGCAGGGTGGAAACAATAGA	0.358000													5	122					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4219657	4219657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr19:4219657C>T	uc010dtt.1	+	18	3349	c.3073C>T	c.(3073-3075)Cag>Tag	p.Q1025*		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	1025										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CACAGCAGAGCAGCAGCTACG	0.657000													49	81					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr4:146059041A>G	uc003ika.4	-	20	2829	c.2691T>C	c.(2689-2691)caT>caC	p.H897H		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	961							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478000													4	210					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25785870	25785870	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr4:25785870T>C	uc003gru.4	-	13	2412	c.2260A>G	c.(2260-2262)Atg>Gtg	p.M754V	SEL1L3_uc003grv.3_Missense_Mutation_p.M161V	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	754						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCTTTCTTCATCAGCTCTAAG	0.438000													17	192					0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30043521	30043521	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr6:30043521C>T	uc003npe.3	-	0	108	c.46G>A	c.(46-48)Gag>Aag	p.E16K	RNF39_uc003npd.3_Missense_Mutation_p.E16K	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	Homo sapiens ring finger protein 39 (RNF39), transcript variant 1, mRNA.	16						cytoplasm	zinc ion binding										GGGATTGCCTCTCTCTTCAAC	0.587000													51	88					0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152830	117152830	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr11:117152830G>A	uc001pqt.3	+	10	1601	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	RNF214_uc001pqu.3_Missense_Mutation_p.S519N|RNF214_uc010rxf.2_Missense_Mutation_p.S364N	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	519	Pro-rich.						zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCCCTTGTCAGCCCCCACGGT	0.637000													6	343					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10917833	10917833	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr2:10917833T>A	uc002ras.3	+	10	1057	c.948T>A	c.(946-948)agT>agA	p.S316R	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	316					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.S316fs*14(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGAGAGAGAGTGAGGGCGAGG	0.602000													4	140					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915766	119915766	+	Silent	SNP	C	C	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr7:119915766C>T	uc003vjj.1	+	0	2045	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	360					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCCCTGCAGCCTTCTGGTATA	0.512000													13	135					0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31641886	31641886	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr3:31641886A>G	uc011axe.2	+	4	812	c.812A>G	c.(811-813)aAt>aGt	p.N271S	STT3B_uc003cer.1_Missense_Mutation_p.N271S|STT3B_uc010hft.1_Missense_Mutation_p.N271S	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	271					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTTATCATCAATCTTATTCCA	0.299000													5	102					0	0	1	0	0
BEX1	55859	broad.mit.edu	37	X	102317829	102317829	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chrX:102317829G>A	uc004ejt.1	-	2	614	c.374C>T	c.(373-375)cCc>cTc	p.P125L	BEX1_uc022cbj.1_Missense_Mutation_p.P125L	NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	Homo sapiens brain expressed, X-linked 1 (BEX1), mRNA.	125					cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						CAGGATTCAGGGCATAAGGCA	0.463000													5	110					0	0	1	0	0
UBAC1	10422	broad.mit.edu	37	9	138830109	138830109	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr9:138830109G>A	uc004cgt.3	-	8	1279	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L		NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	Homo sapiens UBA domain containing 1 (UBAC1), mRNA.	354	STI1.					Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTGCACCACCGGGTTATCCAG	0.612000													4	127					0	0	1	0	0
COQ10A	93058	broad.mit.edu	37	12	56664037	56664037	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr12:56664037C>T	uc001sko.4	+	4	941	c.680C>T	c.(679-681)aCc>aTc	p.T227I	COQ10A_uc001skp.4_Missense_Mutation_p.T195I|COQ10A_uc001skq.4_Missense_Mutation_p.T210I	NM_144576	NP_653177	Q96MF6	CQ10A_HUMAN	Homo sapiens coenzyme Q10 homolog A (S. cerevisiae) (COQ10A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	227						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						CGGGCAGCCACCAAGTTTGGT	0.527000													7	179					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351428	134351428	+	Silent	SNP	C	C	A			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr9:134351428C>A	uc004can.4	+	14	3967	c.3912C>A	c.(3910-3912)ccC>ccA	p.P1304P	PRRC2B_uc010mzj.1_Silent_p.P887P|PRRC2B_uc004cao.4_Silent_p.P662P	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1304							protein binding	p.R1303C(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAAGGCGCCCCCCACGCCAAG	0.637000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	57					0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46727180	46727180	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr11:46727180G>T	uc001nde.2	+	4	2211	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S	ZNF408_uc010rgw.2_Missense_Mutation_p.A636S	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTTCTGCTGCTTCTGAGCC	0.637000													4	96					0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135865217	135865217	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr9:135865217G>T	uc004ccg.3	+	5	1092	c.737G>T	c.(736-738)cGg>cTg	p.R246L	GFI1B_uc010mzy.3_Missense_Mutation_p.R200L	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	246	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCAGACACGCGGCCCTACCCC	0.612000													3	73					0	0	1	0	0
GCSH	2653	broad.mit.edu	37	16	81129777	81129777	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr16:81129777delC	uc002fgd.3	-	0	204	c.107delG	c.(106-108)ggcfs	p.G36fs	GCSH_uc002fge.3_Non-coding_Transcript	NM_004483	NP_004474	P23434	GCSH_HUMAN	Homo sapiens glycine cleavage system protein H (aminomethyl carrier) (GCSH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	36						glycine cleavage complex|mitochondrion	aminomethyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	ACGGACGGCGCCCACCCCCAG	0.781													2	4	---	---	---	---					
FOXC2	2303	broad.mit.edu	37	16	86601995	86601995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A3AQ-01A-11D-A20C-08	TCGA-EM-A3AQ-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbacc1ad-c88a-4bcf-a45f-e9c83c762164	e20e9f74-04bd-477e-a3f6-4e2cceb6d41e	g.chr16:86601995delC	uc002fjq.3	+	0	1139	c.1054delC	c.(1054-1056)cccfs	p.P352fs		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	352					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GTGCGTCCCGCCCGCCCTGGA	0.771									Late-onset Hereditary Lymphedema				2	4	---	---	---	---