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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
VPS13D	55187	broad.mit.edu	37	1	12422812	12422812	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:12422812A>T	uc001atv.2	+	51	10319	c.10178A>T	c.(10177-10179)GAT>GTT	p.D3393V	VPS13D_uc001atw.2_Missense_Mutation_p.D3368V|VPS13D_uc001atx.2_Missense_Mutation_p.D2580V	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3392					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGATACATTGATACCTGCATG	0.428		NaN											0	0	0	0.048971	0	68	142				
C1orf144	26099	broad.mit.edu	37	1	16721628	16721628	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:16721628G>A	uc001aym.3	+	4	622	c.452G>A	c.(451-453)CGC>CAC	p.R151H	C1orf144_uc010ocb.1_Silent_p.A114A|C1orf144_uc001ayi.3_Missense_Mutation_p.R132H|C1orf144_uc001ayk.3_Missense_Mutation_p.R131H	NM_001114600	NP_001108072	Q7Z422	CA144_HUMAN	putative MAPK activating protein PM20,PM21	151											0		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAAACAGCGCAGATAAATG	0.582		NaN											0	0	0	0.021553	0	5	16				
NBPF1	55672	broad.mit.edu	37	1	16918403	16918403	+	Silent	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:16918403G>C	uc009vos.1	-	7	1002	c.114C>G	c.(112-114)CTC>CTG	p.L38L	NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	38						cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATTTCTCTTTGAGGTTTCTGA	0.468		NaN											0	0	0	0.048971	0	49	809				
UBR4	23352	broad.mit.edu	37	1	19441918	19441918	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:19441918C>T	uc001bbi.2	-	74	11041	c.11037G>A	c.(11035-11037)GAG>GAA	p.E3679E	UBR4_uc001bbj.1_Silent_p.E94E	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3679					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGTACACATTCTCTCCACAGT	0.517		NaN											0	0	0	0.038395	0	17	35				
PPIE	10450	broad.mit.edu	37	1	40214727	40214727	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:40214727G>A	uc001cds.1	+	8	704	c.661G>A	c.(661-663)GAT>AAT	p.D221N	PPIE_uc001cdt.1_Missense_Mutation_p.D155N|PPIE_uc010oiy.1_Missense_Mutation_p.D142N|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.D221N|PPIE_uc001cdw.2_Missense_Mutation_p.D221N|PPIE_uc001cdx.1_Missense_Mutation_p.D137N	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	221	PPIase cyclophilin-type.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAGTTCGATGATGAAAACTT	0.557		NaN											0	0	0	0.050027	0	31	32				
CDC14A	8556	broad.mit.edu	37	1	100920981	100920981	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:100920981C>T	uc001dtg.3	+	8	1028	c.540C>T	c.(538-540)TTC>TTT	p.F180F	CDC14A_uc009web.2_RNA|CDC14A_uc010oui.1_Silent_p.F122F|CDC14A_uc001dte.3_Silent_p.F180F|CDC14A_uc001dtf.2_Silent_p.F180F|CDC14A_uc009wed.1_Intron|CDC14A_uc009wee.2_Silent_p.F180F	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN	CDC14 homolog A isoform 1	180	B.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)	1		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		ATGGTGACTTCAACTGGATTG	0.303		NaN											0	0	0	0.108266	0	27	38				
C1orf161	126868	broad.mit.edu	37	1	116670903	116670903	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:116670903G>A	uc001egc.1	+	6	1063	c.798G>A	c.(796-798)CTG>CTA	p.L266L		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	hypothetical protein LOC126868	266											0	Lung SC(450;0.184)	all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGAGGCACCTGAAGGAGGACA	0.587		NaN											0	0	0	0.009096	0	4	23				
NBPF9	400818	broad.mit.edu	37	1	144619399	144619399	+	Silent	SNP	G	G	A	rs4067645	by1000genomes	TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:144619399G>A	uc009wig.1	+	7	622	c.546G>A	c.(544-546)GTG>GTA	p.V182V	NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Silent_p.V182V|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Silent_p.V113V|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Silent_p.V113V|NBPF9_uc010oyg.1_Silent_p.V147V|NBPF9_uc009wii.1_Intron	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	182	NBPF 1.					cytoplasm					0						ATGAGAAAGTGCAGAAATCAT	0.413		NaN											0	0	0	0.024245	0	5	230				
PDE4DIP	9659	broad.mit.edu	37	1	144923818	144923818	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:144923818T>C	uc001elw.3	-	6	931	c.640A>G	c.(640-642)ATG>GTG	p.M214V	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.M280V|PDE4DIP_uc001emc.1_Missense_Mutation_p.M214V|PDE4DIP_uc001emd.1_Missense_Mutation_p.M214V|PDE4DIP_uc001emb.1_Missense_Mutation_p.M377V|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.M1V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	214					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTTCAGTCATGGGCTAGGAA	0.403		NaN	T	PDGFRB	MPD								0	0	0	0.043863	0	19	103				
FAM63A	55793	broad.mit.edu	37	1	150974829	150974829	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:150974829C>G	uc001ewf.2	-	3	1949	c.265G>C	c.(265-267)GAG>CAG	p.E89Q	FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_5'UTR|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Missense_Mutation_p.E137Q|FAM63A_uc001ewg.2_Missense_Mutation_p.E89Q	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	89							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTATTGTCTCTACTTCAGGC	0.582		NaN											0	0	0	0.069288	0	23	39				
IQGAP3	128239	broad.mit.edu	37	1	156503868	156503868	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:156503868G>C	uc001fpf.2	-	30	3881	c.3806C>G	c.(3805-3807)TCA>TGA	p.S1269*		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1269					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACCATGTCTGAGTACTCGTC	0.607		NaN											0	0	0	0.030593	0	26	47				
OLFML2B	25903	broad.mit.edu	37	1	161968053	161968053	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:161968053T>A	uc001gbu.2	-	6	1460	c.1036A>T	c.(1036-1038)ACC>TCC	p.T346S	OLFML2B_uc010pkq.1_Missense_Mutation_p.T347S	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	346										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGCCTCCGGGTGACACTGGTC	0.567		NaN											0	0	0	0.083992	0	26	70				
TNFSF4	7292	broad.mit.edu	37	1	173176222	173176222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:173176222G>A	uc001giw.2	-	1	250	c.94C>T	c.(94-96)CAG>TAG	p.Q32*	TNFSF4_uc001giv.2_5'Flank	NM_003326	NP_003317	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily,	32	Helical; Signal-anchor for type II membrane protein; (Potential).				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			central_nervous_system(1)	1						CCCAGTCCCTGAATTACAGAG	0.537		NaN											0	0	0	0.020292	0	15	35				
HMCN1	83872	broad.mit.edu	37	1	186113383	186113383	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:186113383G>A	uc001grq.1	+	90	14232	c.14003G>A	c.(14002-14004)AGA>AAA	p.R4668K	HMCN1_uc001grs.1_Missense_Mutation_p.R237K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4668	TSP type-1 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ACAAGAGCAAGACTTTGTAAT	0.478		NaN											0	0	0	0.080422	0	37	106				
TPR	7175	broad.mit.edu	37	1	186324850	186324850	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:186324850T>C	uc001grv.2	-	16	2236	c.1939A>G	c.(1939-1941)ACA>GCA	p.T647A		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	647					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTCTGTGATGTACTTGGACGT	0.398		NaN	T	NTRK1	papillary thyroid								0	0	0	0.041601	0	31	53				
CACNA1S	779	broad.mit.edu	37	1	201060841	201060841	+	Silent	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:201060841G>C	uc001gvv.2	-	5	848	c.621C>G	c.(619-621)GTC>GTG	p.V207V		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	207	Helical; Name=S5 of repeat I; (Potential).|I.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CATAGATGATGACCATAAAGA	0.562		NaN											0	0	0	0.105934	0	14	45				
PTPN7	5778	broad.mit.edu	37	1	202124738	202124738	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:202124738C>T	uc001gxm.1	-	5	523	c.392_splice	c.e5-1	p.N131_splice	PTPN7_uc001gxl.1_Splice_Site_p.N170_splice|PTPN7_uc001gxn.1_Splice_Site_p.N131_splice|PTPN7_uc010ppv.1_Splice_Site|PTPN7_uc010ppw.1_Splice_Site_p.N79_splice|PTPN7_uc010ppx.1_Splice_Site_p.N205_splice|PTPN7_uc010ppy.1_Intron|PTPN7_uc001gxo.1_Splice_Site_p.N83_splice	NM_002832	NP_002823	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type							cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			skin(1)	1						CTCTGGGGATCTAGGAAATAA	0.527		NaN											0	0	0	0.047766	0	7	20				
C4BPA	722	broad.mit.edu	37	1	207300089	207300089	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:207300089T>A	uc001hfo.2	+	7	932	c.738T>A	c.(736-738)CAT>CAA	p.H246Q		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	246	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						ATGTTTCACATGGGGAAATGG	0.378		NaN											0	0	0	0.069456	0	30	80				
PTPN14	5784	broad.mit.edu	37	1	214557171	214557171	+	Missense_Mutation	SNP	G	G	A	rs139115216	by1000genomes	TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:214557171G>A	uc001hkk.1	-	13	2298	c.2027C>T	c.(2026-2028)CCG>CTG	p.P676L	PTPN14_uc010pty.1_Missense_Mutation_p.P577L	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	676					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTCCTCGGGCGGTCCCTGCTC	0.632		NaN											0	0	0	0.028581	0	16	27				
H3F3A	3020	broad.mit.edu	37	1	226252162	226252162	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:226252162A>G	uc001hpw.2	+	2	225	c.110A>G	c.(109-111)AAG>AGG	p.K37R	H3F3A_uc010pvl.1_Missense_Mutation_p.K37R	NM_005324	NP_005315	P84243	H33_HUMAN	H3 histone, family 3B	37					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding				0	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GGAGGGGTGAAGAAACCTCAT	0.448		NaN									OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.047766	0	9	28				
PSEN2	5664	broad.mit.edu	37	1	227071519	227071519	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:227071519G>A	uc009xeo.1	+	5	682	c.255G>A	c.(253-255)GCG>GCA	p.A85A	PSEN2_uc009xep.1_Silent_p.A85A|PSEN2_uc001hqk.2_RNA	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	85	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			lung(2)	2		Prostate(94;0.0771)				AATACGGAGCGAAGCACGTGA	0.582		NaN											0	0	0	0.049695	0	19	50				
BMI1	648	broad.mit.edu	37	10	22616891	22616891	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:22616891C>G	uc001irh.2	+	6	968	c.329C>G	c.(328-330)TCT>TGT	p.S110C	BMI1_uc009xkg.2_Missense_Mutation_p.S253C	NM_005180	NP_005171	P35226	BMI1_HUMAN	BMI1 polycomb ring finger oncogene	110					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			ovary(1)|skin(1)	2						GCCAATGGCTCTAATGAAGAT	0.308		NaN											0	0	0	0.028581	0	15	63				
ARMC3	219681	broad.mit.edu	37	10	23321935	23321935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:23321935C>T	uc001irm.3	+	18	2475	c.2392C>T	c.(2392-2394)CGA>TGA	p.R798*	ARMC3_uc010qcv.1_Nonsense_Mutation_p.R791*|ARMC3_uc010qcw.1_Nonsense_Mutation_p.R535*	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	798							binding				0						CTTCTACCATCGAGCTTTGCT	0.363		NaN											0	0	0	0.076483	0	20	43				
RASGEF1A	221002	broad.mit.edu	37	10	43701441	43701441	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:43701441C>T	uc001jap.1	-	2	205	c.124G>A	c.(124-126)GAT>AAT	p.D42N	RASGEF1A_uc001jao.1_Missense_Mutation_p.D50N	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	42	N-terminal Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						AGGTGTCCATCTTGGAAGATG	0.647		NaN											0	0	0	0.058154	0	10	12				
ASAH2	56624	broad.mit.edu	37	10	51974561	51974561	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:51974561C>T	uc001jjd.2	-	8	1082	c.1082G>A	c.(1081-1083)CGT>CAT	p.R361H	ASAH2_uc009xos.2_Missense_Mutation_p.R361H	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase 2 isoform a	361	Lumenal (Potential).				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity				0						GTTGATGCAACGTGGTCCAAG	0.448		NaN											0	0	0	0.069288	0	19	28				
DDIT4	54541	broad.mit.edu	37	10	74034918	74034918	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:74034918C>T	uc001jsx.1	+	3	873	c.671C>T	c.(670-672)TCG>TTG	p.S224L		NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN	RTP801	224					apoptosis					pancreas(1)	1						CTGTACAGCTCGGAACAGCTG	0.567		NaN									OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.014758	0	5	10				
CYP26A1	1592	broad.mit.edu	37	10	94836820	94836820	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:94836820G>A	uc001kil.2	+	7	1298	c.1253G>A	c.(1252-1254)CGA>CAA	p.R418Q	CYP26A1_uc001kik.1_Missense_Mutation_p.R349Q|CYP26A1_uc001kim.1_Missense_Mutation_p.R316Q	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	418					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				AATCCTGACCGATTCATGCTG	0.448		NaN											0	0	0	0.0333	0	17	51				
CYP2E1	1571	broad.mit.edu	37	10	135350733	135350733	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr10:135350733C>T	uc001lnj.1	+	7	1167	c.1134C>T	c.(1132-1134)TTC>TTT	p.F378F	CYP2E1_uc001lnk.1_Silent_p.F241F|CYP2E1_uc009ybl.1_Silent_p.F179F|CYP2E1_uc009ybm.1_Silent_p.F32F|CYP2E1_uc001lnl.1_Silent_p.F179F	NM_000773	NP_000764	P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E,	378					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			central_nervous_system(3)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	ACACCATTTTCAGAGGATACC	0.542		NaN							Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				0	0	0	0.055883	0	19	27				
SMPD1	6609	broad.mit.edu	37	11	6413286	6413286	+	Missense_Mutation	SNP	C	C	T	rs142476839		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:6413286C>T	uc001mcw.2	+	2	1165	c.991C>T	c.(991-993)CCC>TCC	p.P331S	SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.P331S|SMPD1_uc009yew.2_Missense_Mutation_p.P330S	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	329					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	TAGCTTCCCTCCCCCCTTCAT	0.612		NaN											0	0	0	0.024245	0	13	25				
OR10A6	390093	broad.mit.edu	37	11	7949563	7949563	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:7949563A>G	uc010rbh.1	-	1	647	c.647T>C	c.(646-648)TTG>TCG	p.L216S		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A,	216	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATGTAAGACAAGAGTATCAA	0.438		NaN											0	0	0	0.043863	0	18	43				
BEST1	7439	broad.mit.edu	37	11	61727388	61727388	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:61727388A>G	uc001nss.2	+	9	1553	c.973A>G	c.(973-975)ATG>GTG	p.M325V	BEST1_uc010rlq.1_Silent_p.R332R|BEST1_uc010rlr.1_Intron|BEST1_uc010rls.1_Intron|BEST1_uc001nsr.2_Missense_Mutation_p.M265V|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Missense_Mutation_p.M265V|BEST1_uc001nst.2_Missense_Mutation_p.M238V|BEST1_uc010rlu.1_Silent_p.R286R|BEST1_uc010rlv.1_Missense_Mutation_p.M219V	NM_004183	NP_004174	O76090	BEST1_HUMAN	bestrophin 1 isoform 1	325	Cytoplasmic (Potential).		M -> T (in ARB).		response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			central_nervous_system(1)	1						TGTGGATGAGATGCACCAGGA	0.572		NaN											0	0	0	0.004672	0	2	7				
CCDC87	55231	broad.mit.edu	37	11	66359214	66359214	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:66359214G>A	uc001oiq.3	-	1	1341	c.1273C>T	c.(1273-1275)CAC>TAC	p.H425Y	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	425										ovary(1)|skin(1)	2						GGCTGTGGGTGAAGTGGAAAG	0.552		NaN											0	0	0	0.038395	0	18	39				
KIAA1826	84437	broad.mit.edu	37	11	105880796	105880796	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:105880796T>C	uc001piy.2	-	3	677	c.504A>G	c.(502-504)ATA>ATG	p.I168M	KIAA1826_uc001piz.2_Missense_Mutation_p.I168M	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	hypothetical protein LOC84437	168						nucleus				breast(1)	1		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)		TGGAATCTGGTATGACGGATG	0.393		NaN											0	0	0	0.064281	0	35	57				
MLL	4297	broad.mit.edu	37	11	118374132	118374132	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:118374132G>A	uc001pta.2	+	27	7539	c.7516G>A	c.(7516-7518)GAA>AAA	p.E2506K	MLL_uc001ptb.2_Missense_Mutation_p.E2509K	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2506					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CATGCAAGTAGAAGGATCTGC	0.448		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.105934	0	13	31		Valid		
MLL	4297	broad.mit.edu	37	11	118374590	118374590	+	Missense_Mutation	SNP	G	G	C	rs142807735	byFrequency	TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:118374590G>C	uc001pta.2	+	27	7997	c.7974G>C	c.(7972-7974)AAG>AAC	p.K2658N	MLL_uc001ptb.2_Missense_Mutation_p.K2661N	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2658					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGCGAGGCAAGAGATCAGCTG	0.443		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.069234	0	9	31		Valid		
MLL	4297	broad.mit.edu	37	11	118375131	118375131	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr11:118375131G>A	uc001pta.2	+	27	8538	c.8515G>A	c.(8515-8517)GAT>AAT	p.D2839N	MLL_uc001ptb.2_Missense_Mutation_p.D2842N	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2839					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TAACAACAGTGATGACTGTGG	0.448		NaN	T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								0	0	0	0.069456	0	37	93		Valid		
PUS7L	83448	broad.mit.edu	37	12	44124323	44124323	+	Silent	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr12:44124323T>C	uc001rnq.3	-	9	2451	c.1962A>G	c.(1960-1962)CAA>CAG	p.Q654Q	PUS7L_uc001rnr.3_Silent_p.Q654Q|PUS7L_uc001rns.3_Silent_p.Q654Q|PUS7L_uc009zkb.2_Silent_p.Q341Q	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	654					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		CTTCCATTAGTTGGTATGAGA	0.368		NaN											0	0	0	0.074837	0	34	92				
SLC4A8	9498	broad.mit.edu	37	12	51868160	51868160	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr12:51868160C>T	uc001rys.1	+	15	2117	c.1939C>T	c.(1939-1941)CAC>TAC	p.H647Y	SLC4A8_uc010sni.1_Missense_Mutation_p.H594Y|SLC4A8_uc001rym.2_Missense_Mutation_p.H594Y|SLC4A8_uc001ryn.2_Missense_Mutation_p.H594Y|SLC4A8_uc001ryo.2_Missense_Mutation_p.H594Y|SLC4A8_uc010snj.1_Missense_Mutation_p.H674Y|SLC4A8_uc001ryq.3_Missense_Mutation_p.H647Y|SLC4A8_uc001ryr.2_Missense_Mutation_p.H647Y|SLC4A8_uc010snk.1_Missense_Mutation_p.H594Y	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	647	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCCAAACAATCACACCCTCCA	0.458		NaN											0	0	0	0.047766	0	9	30				
MYCBP2	23077	broad.mit.edu	37	13	77743819	77743819	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr13:77743819G>A	uc001vkf.2	-	40	5802	c.5711C>T	c.(5710-5712)TCC>TTC	p.S1904F	MYCBP2_uc010aev.2_Missense_Mutation_p.S1308F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1904					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AAACAGACTGGAAGAACTCAG	0.383		NaN											0	0	0	0.043863	0	18	66				
RTN1	6252	broad.mit.edu	37	14	60212834	60212834	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr14:60212834C>T	uc001xen.1	-	2	816	c.607G>A	c.(607-609)GAG>AAG	p.E203K		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	203					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTCACCTCCTCGGGTCTGGTT	0.453		NaN											0	0	0	0.048971	0	70	138				
SNX22	79856	broad.mit.edu	37	15	64446590	64446590	+	Silent	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr15:64446590G>C	uc002anc.1	+	7	524	c.465G>C	c.(463-465)TCG>TCC	p.S155S	SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	155					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						CCACAGAGTCGCTGCCCAACG	0.602		NaN									OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.049695	0	19	111				
SNX33	257364	broad.mit.edu	37	15	75941596	75941596	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr15:75941596T>G	uc002bau.2	+	1	249	c.153T>G	c.(151-153)TTT>TTG	p.F51L	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'Flank	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	sorting nexin 33	51	SH3.				cell communication		phosphatidylinositol binding|protein binding			ovary(1)	1						CAGGGCTCTTTCCTGCCTCTT	0.587		NaN											0	0	0	0.076483	0	23	61				
IFT140	9742	broad.mit.edu	37	16	1616196	1616196	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:1616196C>G	uc002cmb.2	-	16	2229	c.1867G>C	c.(1867-1869)GAG>CAG	p.E623Q	IFT140_uc002clz.2_Missense_Mutation_p.E274Q	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	623										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GACAGCGTCTCTCTCCGATCA	0.428		NaN											0	0	0	0.048971	0	57	135				
C16orf59	80178	broad.mit.edu	37	16	2510687	2510687	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:2510687C>T	uc002cqh.2	+	3	220	c.189C>T	c.(187-189)CCC>CCT	p.P63P	C16orf59_uc002cqf.1_Silent_p.P63P|C16orf59_uc002cqg.1_5'UTR|C16orf59_uc002cqi.2_5'UTR|C16orf59_uc010uwb.1_5'Flank	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	hypothetical protein LOC80178	63											0		Ovarian(90;0.17)				GAGAGGACCCCCTTCCAGGTA	0.637		NaN											0	0	0	0.09319	0	12	16				
CPPED1	55313	broad.mit.edu	37	16	12758794	12758794	+	Silent	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:12758794C>G	uc002dca.3	-	4	1005	c.894G>C	c.(892-894)CTG>CTC	p.L298L	CPPED1_uc002dcb.3_Silent_p.L156L|CPPED1_uc002dbz.3_RNA	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	298							hydrolase activity|metal ion binding				0						CTTTCTCACTCAGCTCATCTA	0.478		NaN											0	0	0	0.034045	0	26	43				
C16orf88	400506	broad.mit.edu	37	16	19726111	19726111	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:19726111C>G	uc002dgq.2	-	2	262	c.247G>C	c.(247-249)GAA>CAA	p.E83Q	IQCK_uc002dgr.2_5'Flank|IQCK_uc002dgs.2_5'Flank|IQCK_uc010vat.1_5'Flank|IQCK_uc010bwc.2_5'Flank|IQCK_uc010vau.1_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	hypothetical protein LOC400506	83	Lys-rich.					nucleolus					0						GTCTCAGGTTCTACATGCTCC	0.488		NaN											0	0	0	0.038395	0	16	37				
CHD9	80205	broad.mit.edu	37	16	53272307	53272307	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:53272307A>G	uc002ehb.2	+	11	2850	c.2686A>G	c.(2686-2688)ATT>GTT	p.I896V	CHD9_uc002egy.2_Missense_Mutation_p.I896V|CHD9_uc002eha.1_Missense_Mutation_p.I896V|CHD9_uc002ehc.2_Missense_Mutation_p.I896V|CHD9_uc002ehf.2_Missense_Mutation_p.I10V|CHD9_uc002ehd.2_Missense_Mutation_p.I422V|CHD9_uc002ehe.1_Missense_Mutation_p.I10V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	896	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TATTCAATCAATTACATTCCT	0.358		NaN											0	0	0	0.049695	0	18	32				
IL34	146433	broad.mit.edu	37	16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:70693984C>T	uc002ezh.1	+	6	1006	c.623C>T	c.(622-624)GCG>GTG	p.A208V	IL34_uc002ezi.1_Missense_Mutation_p.A207V	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	interleukin 34 precursor	208					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			central_nervous_system(1)|skin(1)	2						TTGCAGTATGCGGCCACCCAG	0.647		NaN											0	0	0	0.009096	0	4	123				
HPR	3250	broad.mit.edu	37	16	72110371	72110371	+	Silent	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr16:72110371C>G	uc002fby.2	+	5	468	c.438C>G	c.(436-438)CTC>CTG	p.L146L	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	146	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)				CTAAAAATCTCTTCCTGAACC	0.478		NaN											0	0	0	0.09319	0	13	24				
C17orf81	23587	broad.mit.edu	37	17	7162148	7162148	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:7162148G>A	uc002gfg.1	+	8	846	c.739G>A	c.(739-741)GAT>AAT	p.D247N	C17orf81_uc002gfj.2_3'UTR|C17orf81_uc010cmb.2_3'UTR|C17orf81_uc002gfh.1_Missense_Mutation_p.D247N|C17orf81_uc002gfi.1_Missense_Mutation_p.D247N|C17orf81_uc002gfl.1_Intron	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	S-phase 2 protein isoform 4	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding				0						CCTACAGGTGGATCCCACAAC	0.502		NaN											0	0	0	0.0333	0	18	20				
C17orf81	23587	broad.mit.edu	37	17	7162193	7162193	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:7162193G>C	uc002gfg.1	+	8	891	c.784G>C	c.(784-786)GAG>CAG	p.E262Q	C17orf81_uc002gfj.2_3'UTR|C17orf81_uc010cmb.2_3'UTR|C17orf81_uc002gfh.1_Missense_Mutation_p.E262Q|C17orf81_uc002gfi.1_Missense_Mutation_p.E262Q|C17orf81_uc002gfl.1_Intron	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	S-phase 2 protein isoform 4	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding				0						GTCCAAGAAAGAGAGAGAAGC	0.512		NaN											0	0	0	0.028581	0	17	21				
NCOR1	9611	broad.mit.edu	37	17	16022773	16022773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:16022773G>A	uc002gpo.2	-	17	2119	c.1879C>T	c.(1879-1881)CGA>TGA	p.R627*	NCOR1_uc002gpn.2_Nonsense_Mutation_p.R627*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.R518*|NCOR1_uc002gpr.2_Nonsense_Mutation_p.R518*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	627	SANT 2.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCTGTCCATCGAGAGGTCTCC	0.333		NaN											0	0	0	0.086207	0	31	38		Valid		
EPN2	22905	broad.mit.edu	37	17	19216560	19216560	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:19216560C>A	uc002gvd.3	+	7	1563	c.1115C>A	c.(1114-1116)CCT>CAT	p.P372H	EPN2_uc010cql.1_Missense_Mutation_p.P81H|EPN2_uc002gve.3_Missense_Mutation_p.P315H|EPN2_uc002gvf.3_Missense_Mutation_p.P87H|EPN2_uc010vyo.1_Missense_Mutation_p.P80H|EPN2_uc002gvg.1_Missense_Mutation_p.P315H|EPN2_uc010vyp.1_Missense_Mutation_p.P308H|EPN2_uc010vyq.1_Missense_Mutation_p.P309H|EPN2_uc002gvh.1_Missense_Mutation_p.P372H|EPN2_uc002gvj.3_Missense_Mutation_p.P35H	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	372	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCAGCGGCTCCTGCGAGTACT	0.657		NaN											1	0	2.0701e-58	0.048971	2.21903e-58	141	277				
RNF112	7732	broad.mit.edu	37	17	19319463	19319463	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:19319463G>A	uc010vyw.1	+	14	2070	c.1871G>A	c.(1870-1872)CGA>CAA	p.R624Q	RNF112_uc010vyv.1_Missense_Mutation_p.R625Q	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	624							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						GAAGGGGACCGAGAGCCCCTT	0.627		NaN											0	0	0	0.069234	0	10	25				
UBTF	7343	broad.mit.edu	37	17	42289089	42289089	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:42289089T>G	uc002igb.2	-	9	999	c.932A>C	c.(931-933)GAG>GCG	p.E311A	UBTF_uc002igc.2_Missense_Mutation_p.E274A|UBTF_uc010czs.2_Missense_Mutation_p.E311A|UBTF_uc002igd.2_Missense_Mutation_p.E274A|UBTF_uc010czt.2_Missense_Mutation_p.E311A|UBTF_uc002ige.2_Missense_Mutation_p.E274A	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	311	HMG box 3.				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGCCATGAGCTCTGCGCAGTA	0.617		NaN											0	0	0	0.080935	0	12	51				
KIAA1267	284058	broad.mit.edu	37	17	44109507	44109507	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:44109507G>C	uc002ikb.2	-	13	3081	c.2996C>G	c.(2995-2997)TCA>TGA	p.S999*	KIAA1267_uc002ikc.2_Nonsense_Mutation_p.S999*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.S999*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.S998*|KIAA1267_uc010wkb.1_Nonsense_Mutation_p.S330*|KIAA1267_uc010wkc.1_Nonsense_Mutation_p.S267*	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	999						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)				GAGGGGTGCTGAGTGCAGTTC	0.602		NaN											0	0	0	0.069234	0	11	55				
COL1A1	1277	broad.mit.edu	37	17	48275121	48275121	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:48275121G>C	uc002iqm.2	-	9	794	c.668C>G	c.(667-669)CCA>CGA	p.P223R		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	223	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	AGGGGGACCTGGGGGACCTCG	0.507		NaN	T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						0	0	0	0.086207	0	36	126				
PDE6G	5148	broad.mit.edu	37	17	79620333	79620333	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:79620333C>T	uc002kay.3	-	2	147	c.3G>A	c.(1-3)ATG>ATA	p.M1I	PDE6G_uc002kaz.3_Intron	NM_002602	NP_002593	P18545	CNRG_HUMAN	phosphodiesterase 6G	1					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity				0	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GTTCCAGGTTCATGGTGAGGC	0.662		NaN											0	0	0	0.0918	0	26	32				
POLI	11201	broad.mit.edu	37	18	51818253	51818253	+	Nonsense_Mutation	SNP	C	C	T	rs56152401		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr18:51818253C>T	uc002lfj.3	+	9	1317	c.1249C>T	c.(1249-1251)CGA>TGA	p.R417*	POLI_uc010xds.1_Nonsense_Mutation_p.R338*|POLI_uc002lfk.3_Nonsense_Mutation_p.R314*|POLI_uc010dpg.2_Nonsense_Mutation_p.R13*	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	417					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GAAACTTTTTCGAAATATGGT	0.308		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.069234	0	10	41				
ZNF516	9658	broad.mit.edu	37	18	74091604	74091604	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr18:74091604G>A	uc010dqx.1	-	3	2701	c.2466C>T	c.(2464-2466)CTC>CTT	p.L822L	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTTTGCCACCGAGGGCAGGCG	0.622		NaN											0	0	0	0.041601	0	31	72				
ELAVL1	1994	broad.mit.edu	37	19	8046039	8046039	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:8046039G>A	uc002mjb.2	-	3	371	c.204C>T	c.(202-204)TAC>TAT	p.Y68Y		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	68	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						TCGCGGTCACGTAGTTCACAA	0.532		NaN											0	0	0	0.020292	0	14	46				
LPAR2	9170	broad.mit.edu	37	19	19737749	19737749	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:19737749G>A	uc002nnb.3	-	2	484	c.345C>T	c.(343-345)CTC>CTT	p.L115L	LPAR2_uc002nna.3_Silent_p.L115L|LPAR2_uc002nnc.3_Silent_p.L115L	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	115	Helical; Name=3; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			ovary(1)|breast(1)	2						CCGACGCAGTGAGGCTTGTGT	0.672		NaN											0	0	0	0.021553	0	6	6				
ZNF573	126231	broad.mit.edu	37	19	38229523	38229523	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:38229523G>C	uc002ohe.2	-	4	1890	c.1868C>G	c.(1867-1869)TCA>TGA	p.S623*	ZNF573_uc010efs.2_Nonsense_Mutation_p.S536*|ZNF573_uc002ohd.2_Nonsense_Mutation_p.S621*|ZNF573_uc002ohf.2_Nonsense_Mutation_p.S565*|ZNF573_uc002ohg.2_Nonsense_Mutation_p.S535*	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	603	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AACAAGGTTTGAAGCACGACT	0.413		NaN											0	0	0	0.042209	0	46	77				
TRPM4	54795	broad.mit.edu	37	19	49713574	49713574	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:49713574C>T	uc002pmw.2	+	21	3312	c.3240C>T	c.(3238-3240)ATC>ATT	p.I1080I	TRPM4_uc010emu.2_Silent_p.I935I|TRPM4_uc010yak.1_Silent_p.I544I|TRPM4_uc002pmx.2_Silent_p.I906I|TRPM4_uc010emv.2_Silent_p.I965I|TRPM4_uc010yal.1_Silent_p.I726I|TRPM4_uc002pmy.2_Silent_p.I422I	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	1080	Cytoplasmic (Potential).|Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGCCCTTTATCGTCATCTCCC	0.637		NaN											0	0	0	0.062417	0	20	30				
LENG8	114823	broad.mit.edu	37	19	54967251	54967251	+	Silent	SNP	T	T	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:54967251T>G	uc002qfv.1	+	8	1164	c.1020T>G	c.(1018-1020)GGT>GGG	p.G340G	LENG8_uc002qfw.2_Silent_p.G377G			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	340							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGGCGGGGGTGCCCCGTCCC	0.687		NaN											0	0	0	0.058154	0	6	24				
KIR3DL1	3811	broad.mit.edu	37	19	55329821	55329821	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:55329821G>A	uc002qhk.3	+	3	185	c.122G>A	c.(121-123)CGA>CAA	p.R41Q	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_5'UTR|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_5'UTR|KIR3DL1_uc002qhl.3_Missense_Mutation_p.R41Q	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	41	Extracellular (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		GTGGTGCCTCGAGGAGGACAC	0.542		NaN											0	0	0	0.09836	0	37	54				
NLRP8	126205	broad.mit.edu	37	19	56466176	56466176	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr19:56466176C>T	uc002qmh.2	+	3	823	c.752C>T	c.(751-753)ACG>ATG	p.T251M	NLRP8_uc010etg.2_Missense_Mutation_p.T251M	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	251	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGAACCAGACGACAGACCAG	0.512		NaN											0	0	0	0.080422	0	38	75				
GGCX	2677	broad.mit.edu	37	2	85785670	85785670	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:85785670C>T	uc002sps.2	-	4	538	c.432G>A	c.(430-432)CTG>CTA	p.L144L	GGCX_uc010yss.1_Silent_p.L16L|GGCX_uc010yst.1_Silent_p.L87L	NM_000821	NP_000812	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase isoform 1	144	Helical; (Potential).				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			ovary(1)	1					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	ACCAGTATGGCAGCAGGAATA	0.493		NaN											0	0	0	0.076483	0	24	44				
GPR39	2863	broad.mit.edu	37	2	133174772	133174772	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:133174772C>T	uc002ttl.2	+	1	626	c.157C>T	c.(157-159)CGG>TGG	p.R53W		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	53	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						CGCCACCATTCGGGTCACCCA	0.537		NaN											0	0	0	0.049695	0	19	32				
LRP1B	53353	broad.mit.edu	37	2	141272335	141272335	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:141272335G>T	uc002tvj.1	-	51	9128	c.8156C>A	c.(8155-8157)TCT>TAT	p.S2719Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2719	Extracellular (Potential).|LDL-receptor class A 16.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAAGAGCAAGAAGAATCTAG	0.284		NaN								TSP Lung(27;0.18)			1	0	7.03913e-09	0.09319	7.33447e-09	13	26				
SP3	6670	broad.mit.edu	37	2	174783487	174783487	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:174783487C>T	uc002uig.2	-	5	1830	c.1666G>A	c.(1666-1668)GAT>AAT	p.D556N	SP3_uc002uie.2_Missense_Mutation_p.D488N|SP3_uc002uif.2_Missense_Mutation_p.D503N|SP3_uc010zel.1_Missense_Mutation_p.D553N	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	556	Repressor domain.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TCTTCAGGATCAGGTTCTTCT	0.403		NaN											0	0	0	0.0333	0	17	39				
TTN	7273	broad.mit.edu	37	2	179638034	179638034	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:179638034C>G	uc010zfg.1	-	33	7881	c.7657G>C	c.(7657-7659)GAG>CAG	p.E2553Q	TTN_uc010zfh.1_Missense_Mutation_p.E2507Q|TTN_uc010zfi.1_Missense_Mutation_p.E2507Q|TTN_uc010zfj.1_Missense_Mutation_p.E2507Q|TTN_uc002unb.2_Missense_Mutation_p.E2553Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2553							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCAACCTCAAACACCACA	0.353		NaN											0	0	0	0.049695	0	18	33				
COL5A2	1290	broad.mit.edu	37	2	189953486	189953486	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:189953486G>C	uc002uqk.2	-	8	855	c.580C>G	c.(580-582)CAA>GAA	p.Q194E	COL5A2_uc010frx.2_5'Flank	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	194					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGCCATTTGAGCTGAAAAC	0.378		NaN											0	0	0	0.108266	0	25	75				
ANKAR	150709	broad.mit.edu	37	2	190593544	190593544	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:190593544A>G	uc002uqw.1	+	14	2977	c.2977A>G	c.(2977-2979)ATT>GTT	p.I993V	ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Missense_Mutation_p.I160V	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1064						integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATCCATTTGTATTGGTTTGTA	0.393		NaN											0	0	0	0.037714	0	31	48				
GTF3C3	9330	broad.mit.edu	37	2	197639909	197639909	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:197639909G>C	uc002uts.2	-	13	1852	c.1762C>G	c.(1762-1764)CTT>GTT	p.L588V	GTF3C3_uc010zgu.1_Missense_Mutation_p.L559V	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide	588						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(3)|breast(3)|pancreas(1)	7						ACTTTAATAAGATAAAGATGC	0.333		NaN											0	0	0	0.024245	0	14	37				
SNRPB2	6629	broad.mit.edu	37	20	16719531	16719531	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr20:16719531C>G	uc002wph.1	+	5	629	c.413C>G	c.(412-414)TCA>TGA	p.S138*	SNRPB2_uc002wpi.1_Nonsense_Mutation_p.S138*	NM_003092	NP_003083	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B''	138						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(1)	1						CAAGGAAATTCAACACCAAAT	0.338		NaN											0	0	0	0.069234	0	8	22				
CEP250	11190	broad.mit.edu	37	20	34051427	34051427	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr20:34051427G>C	uc002xcm.2	+	6	885	c.214G>C	c.(214-216)GAG>CAG	p.E72Q	CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	72					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGGTGCCAAGAGCTGGAGAA	0.547		NaN									OREG0025891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.021553	0	5	25				
BRWD1	54014	broad.mit.edu	37	21	40604198	40604198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr21:40604198G>A	uc002yxk.1	-	25	3044	c.2905C>T	c.(2905-2907)CGA>TGA	p.R969*	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Nonsense_Mutation_p.R969*|BRWD1_uc010god.1_5'Flank	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	969					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGACCCTGTCGAAAATATATT	0.308		NaN											0	0	0	0.02938	0	6	33				
GNAZ	2781	broad.mit.edu	37	22	23465561	23465561	+	Silent	SNP	C	C	T	rs139659965		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr22:23465561C>T	uc002zwu.1	+	3	1548	c.1011C>T	c.(1009-1011)TTC>TTT	p.F337F	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	337						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGTTTGTCTTCGACGCGGTGA	0.562		NaN											0	0	0	0.024245	0	13	16				
CCDC36	339834	broad.mit.edu	37	3	49249260	49249260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:49249260C>A	uc003cwk.2	+	4	434	c.47C>A	c.(46-48)TCA>TAA	p.S16*	CCDC36_uc003cwl.3_Nonsense_Mutation_p.S16*|CCDC36_uc011bck.1_Nonsense_Mutation_p.S16*|CCDC36_uc010hkt.2_RNA	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	16										ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AGTATTCCTTCAGGCTCTGGG	0.239		NaN											1	0	3.7963e-18	0.083992	4.0117e-18	22	63				
CCDC36	339834	broad.mit.edu	37	3	49249266	49249266	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:49249266C>T	uc003cwk.2	+	4	440	c.53C>T	c.(52-54)TCT>TTT	p.S18F	CCDC36_uc003cwl.3_Missense_Mutation_p.S18F|CCDC36_uc011bck.1_Missense_Mutation_p.S18F|CCDC36_uc010hkt.2_RNA	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	18										ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CCTTCAGGCTCTGGGTAAGTT	0.229		NaN											0	0	0	0.069288	0	21	61				
DOCK3	1795	broad.mit.edu	37	3	51393912	51393912	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:51393912G>C	uc011bds.1	+	43	4514	c.4491G>C	c.(4489-4491)GAG>GAC	p.E1497D		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1497	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTGAAGTGGAGAGGAGGGAAC	0.542		NaN											0	0	0	0.028581	0	16	47				
ARHGEF3	50650	broad.mit.edu	37	3	56787589	56787589	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:56787589G>C	uc003dig.2	-	4	550	c.381C>G	c.(379-381)ATC>ATG	p.I127M	ARHGEF3_uc011bew.1_Missense_Mutation_p.I127M|ARHGEF3_uc003dih.2_Missense_Mutation_p.I159M|ARHGEF3_uc011bev.1_Missense_Mutation_p.I98M|ARHGEF3_uc003dif.2_Missense_Mutation_p.I133M|ARHGEF3_uc010hmy.1_Translation_Start_Site|ARHGEF3_uc003dii.2_Missense_Mutation_p.I127M	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor 3 isoform	127	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AAAGCTCAAAGATCGCCTGCA	0.368		NaN											0	0	0	0.041601	0	27	83				
ARL13B	200894	broad.mit.edu	37	3	93761858	93761858	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:93761858G>C	uc003drc.2	+	7	1085	c.799_splice	c.e7-1	p.N267_splice	ARL13B_uc010hop.2_Splice_Site_p.N118_splice|ARL13B_uc003drd.2_Splice_Site_p.N160_splice|ARL13B_uc003dre.2_Splice_Site_p.N252_splice|ARL13B_uc003drf.2_Splice_Site_p.N267_splice|ARL13B_uc003drg.2_Splice_Site_p.N164_splice	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1								GTP binding				0						TTTTTTGTTAGAATGAAGGAA	0.313		NaN											0	0	0	0.004672	0	2	6				
ARL13B	200894	broad.mit.edu	37	3	93761880	93761880	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:93761880G>C	uc003drc.2	+	7	1106	c.820G>C	c.(820-822)GAG>CAG	p.E274Q	ARL13B_uc010hop.2_Missense_Mutation_p.E125Q|ARL13B_uc003drd.2_Missense_Mutation_p.E167Q|ARL13B_uc003dre.2_Missense_Mutation_p.E259Q|ARL13B_uc003drf.2_Missense_Mutation_p.E274Q|ARL13B_uc003drg.2_Missense_Mutation_p.E171Q	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	274							GTP binding				0						ACTTGAAAGAGAGAAAAAAAA	0.328		NaN											0	0	0	0.009096	0	4	10				
SGEF	26084	broad.mit.edu	37	3	153840100	153840100	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:153840100C>G	uc011bog.1	+	2	530	c.319C>G	c.(319-321)CGA>GGA	p.R107G	uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.R107G	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	107	Pro-rich.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGCCTCTCCTCGACTTCGACG	0.687		NaN											0	0	0	0.021553	0	5	17				
VPS8	23355	broad.mit.edu	37	3	184557485	184557485	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:184557485G>A	uc003fpb.1	+	7	652	c.481_splice	c.e7-1	p.A161_splice	VPS8_uc010hyd.1_Splice_Site_p.A161_splice|VPS8_uc003fpc.1_3'UTR	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog isoform b								zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTTGTTTTCAGGCAGTATCCA	0.358		NaN											0	0	0	0.038147	0	7	12				
TFRC	7037	broad.mit.edu	37	3	195794923	195794923	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr3:195794923C>T	uc003fvz.3	-	8	1163	c.880G>A	c.(880-882)GAA>AAA	p.E294K	TFRC_uc003fwa.3_Missense_Mutation_p.E294K|TFRC_uc010hzy.2_Missense_Mutation_p.E213K|TFRC_uc011btr.1_Missense_Mutation_p.E12K	NM_003234	NP_003225	P02786	TFR1_HUMAN	transferrin receptor	294	Extracellular (Potential).|PA.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AATGAAAGTTCTGCGTTAACA	0.353		NaN	T	BCL6	NHL								0	0	0	0.02938	0	7	33				
HTRA3	94031	broad.mit.edu	37	4	8288305	8288305	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:8288305G>A	uc003gla.2	+	3	707	c.503G>A	c.(502-504)CGC>CAC	p.R168H	HTRA3_uc003gkz.2_Missense_Mutation_p.R168H	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	168					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						CTGTTTGGCCGCAACGTGCCC	0.657		NaN											0	0	0	0.043863	0	16	64				
METAP1	23173	broad.mit.edu	37	4	99982412	99982412	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:99982412G>C	uc003huf.3	+	11	1222	c.1105G>C	c.(1105-1107)GAA>CAA	p.E369Q	METAP1_uc003hug.2_RNA|METAP1_uc010ild.2_RNA	NM_015143	NP_055958	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	369					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CACTGGCTGTGAAATCCTAAC	0.512		NaN											0	0	0	0.076483	0	25	59				
TET2	54790	broad.mit.edu	37	4	106156496	106156496	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:106156496C>G	uc003hxk.2	+	3	1783	c.1397C>G	c.(1396-1398)TCT>TGT	p.S466C	TET2_uc011cez.1_Missense_Mutation_p.S487C|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.S466C|TET2_uc003hxi.1_Missense_Mutation_p.S466C	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	466					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCTAATCCATCTACACATGTA	0.458		NaN	Mis N|F		MDS								0	0	0	0.09319	0	13	35				
TET2	54790	broad.mit.edu	37	4	106156625	106156625	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:106156625C>G	uc003hxk.2	+	3	1912	c.1526C>G	c.(1525-1527)TCA>TGA	p.S509*	TET2_uc011cez.1_Nonsense_Mutation_p.S530*|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Nonsense_Mutation_p.S509*|TET2_uc003hxi.1_Nonsense_Mutation_p.S509*	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	tet oncogene family member 2 isoform a	509					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S509*(3)		haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGACCAATGTCAGAACACCTC	0.433		NaN	Mis N|F		MDS								0	0	0	0.069234	0	11	37				
RAPGEF2	9693	broad.mit.edu	37	4	160253617	160253617	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:160253617C>T	uc003iqg.3	+	11	1730	c.1420C>T	c.(1420-1422)CTA>TTA	p.L474L		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	474					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TAAAGAACTTCTAACAAGATT	0.358		NaN											0	0	0	0.049695	0	18	43				
CPE	1363	broad.mit.edu	37	4	166414359	166414359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:166414359C>T	uc003irg.3	+	7	1427	c.1150C>T	c.(1150-1152)CAA>TAA	p.Q384*		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	384					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGAGACCTTCAAGGTAACCC	0.408		NaN									OREG0016391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.028581	0	13	36				
UFSP2	55325	broad.mit.edu	37	4	186334999	186334999	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr4:186334999G>T	uc003ixo.2	-	7	829	c.712C>A	c.(712-714)CAC>AAC	p.H238N	UFSP2_uc003ixn.2_Missense_Mutation_p.H128N|UFSP2_uc003ixq.2_Missense_Mutation_p.H128N|UFSP2_uc003ixp.2_RNA	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	238						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGTCTGTCGTGAGGCAGATTG	0.333		NaN											1	0	1.1804e-14	0.0918	1.23858e-14	26	31				
NIPBL	25836	broad.mit.edu	37	5	36985880	36985880	+	Silent	SNP	A	A	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr5:36985880A>G	uc003jkl.3	+	10	3097	c.2598A>G	c.(2596-2598)CTA>CTG	p.L866L	NIPBL_uc003jkk.3_Silent_p.L866L|NIPBL_uc003jkm.1_Silent_p.L745L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	866					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTGATAAACTAGAACGAAAAC	0.413		NaN											0	0	0	0.020292	0	14	20				
PCDHA6	56142	broad.mit.edu	37	5	140209470	140209470	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr5:140209470C>T	uc003lho.2	+	1	1821	c.1794C>T	c.(1792-1794)GAC>GAT	p.D598D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.D598D	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	598	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCAGTTGACGCCGACTCAG	0.667		NaN											0	0	0	0.009096	0	3	54				
IL17B	27190	broad.mit.edu	37	5	148754143	148754143	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr5:148754143C>T	uc003lqo.2	-	3	382	c.332G>A	c.(331-333)CGT>CAT	p.R111H		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	111					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGGATACGGCTGGGGTC	0.627		NaN											0	0	0	0.021553	0	6	21				
SYNPO	11346	broad.mit.edu	37	5	150028061	150028061	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr5:150028061C>T	uc003lsn.2	+	3	1330	c.956C>T	c.(955-957)TCG>TTG	p.S319L	SYNPO_uc003lso.3_Missense_Mutation_p.S75L|SYNPO_uc003lsp.2_Missense_Mutation_p.S75L	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	319					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCTTGCCTCGCCCAGTGCC	0.607		NaN											0	0	0	0.11126	0	44	93				
KIAA1949	170954	broad.mit.edu	37	6	30653297	30653297	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:30653297G>T	uc003nra.2	-	2	730	c.499C>A	c.(499-501)CTG>ATG	p.L167M	KIAA1949_uc003nrb.3_Missense_Mutation_p.L167M	NM_001134870	NP_001128342	Q6NYC8	PHTNS_HUMAN	phostensin	167						cytoplasm|cytoskeleton	actin binding				0						CGAGCCTCCAGAGGCCTCAGG	0.602		NaN											1	0	1.40369e-38	0.048971	1.49392e-38	65	127				
RNF5	6048	broad.mit.edu	37	6	32148014	32148014	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:32148014C>T	uc003oaj.3	+	6	581	c.454C>T	c.(454-456)CTG>TTG	p.L152L	AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	ring finger protein 5	152					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0						AGGTGTGGATCTGGGACAGGG	0.562		NaN											0	0	0	0.048971	0	83	175				
COL19A1	1310	broad.mit.edu	37	6	70875870	70875870	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:70875870G>C	uc003pfc.1	+	37	2555	c.2438G>C	c.(2437-2439)GGA>GCA	p.G813A	COL19A1_uc010kam.1_Missense_Mutation_p.G709A	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	813	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4						GGACCACCTGGACCACCTGTG	0.428		NaN											0	0	0	0.004672	0	3	136				
B3GAT2	135152	broad.mit.edu	37	6	71665793	71665793	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:71665793T>C	uc003pfv.2	-	1	996	c.340A>G	c.(340-342)ATC>GTC	p.I114V	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Missense_Mutation_p.I114V	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	114	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TCCACCAGGATCCAGTGCAGC	0.721		NaN											0	0	0	0.021553	0	5	10				
LAMA2	3908	broad.mit.edu	37	6	129691106	129691106	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:129691106G>A	uc003qbn.2	+	34	5035	c.4930G>A	c.(4930-4932)GTG>ATG	p.V1644M	LAMA2_uc003qbo.2_Missense_Mutation_p.V1644M	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1644	Domain II and I.|Potential.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATACACTCGTGACCGAAAT	0.433		NaN											0	0	0	0.034045	0	29	31				
SYNE1	23345	broad.mit.edu	37	6	152668238	152668238	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:152668238C>T	uc010kiw.2	-	73	12636	c.12034G>A	c.(12034-12036)GGC>AGC	p.G4012S	SYNE1_uc003qot.3_Missense_Mutation_p.G3941S|SYNE1_uc003qou.3_Missense_Mutation_p.G4012S|SYNE1_uc010kja.1_Missense_Mutation_p.G717S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4012	Spectrin 10.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCTTTGTGCCCTGCAGATGA	0.493		NaN								HNSCC(10;0.0054)			0	0	0	0.020292	0	12	39				
LPA	4018	broad.mit.edu	37	6	161007642	161007642	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:161007642C>T	uc003qtl.2	-	26	4088	c.3968G>A	c.(3967-3969)TGC>TAC	p.C1323Y		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3831	Kringle 34.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGATTCCTGCAGTAGTTCCT	0.483		NaN											0	0	0	0.038395	0	19	47				
CRHR2	1395	broad.mit.edu	37	7	30721547	30721547	+	Silent	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr7:30721547G>C	uc003tbn.2	-	2	457	c.213C>G	c.(211-213)GTC>GTG	p.V71V	CRHR2_uc010kvw.1_Silent_p.V71V|CRHR2_uc010kvx.1_Silent_p.V71V|CRHR2_uc010kvy.1_5'UTR|CRHR2_uc003tbo.2_Silent_p.V57V|CRHR2_uc003tbp.2_Silent_p.V98V|CRHR2_uc010kvz.1_RNA|CRHR2_uc003tbq.1_RNA	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	71	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						TGTTGTACTTGACGCCGTTGA	0.647		NaN											0	0	0	0.105934	0	10	17				
MRPS17	51373	broad.mit.edu	37	7	56022649	56022649	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr7:56022649G>A	uc003trd.2	+	3	201	c.171G>A	c.(169-171)CAG>CAA	p.Q57Q	MRPS17_uc003trb.2_Silent_p.Q152Q	NM_015969	NP_057053	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17 precursor	57					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCCTTCAGCAGTGCACAGTTG	0.443		NaN											0	0	0	0.048971	0	88	212				
TBXAS1	6916	broad.mit.edu	37	7	139636073	139636073	+	Silent	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr7:139636073G>A	uc011kqv.1	+	5	584	c.420G>A	c.(418-420)CTG>CTA	p.L140L	TBXAS1_uc003vvh.2_Silent_p.L140L|TBXAS1_uc010lne.2_Silent_p.L72L|TBXAS1_uc011kqu.1_Silent_p.L91L|TBXAS1_uc003vvi.2_Silent_p.L140L|TBXAS1_uc003vvj.2_Silent_p.L140L|TBXAS1_uc011kqw.1_Silent_p.L120L	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	139	Cytoplasmic (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)					GAGGTGCCCTGATGTCTGCTT	0.473		NaN											0	0	0	0.048971	0	65	134				
ZNF777	27153	broad.mit.edu	37	7	149129112	149129112	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr7:149129112C>T	uc003wfv.2	-	6	2414	c.2251G>A	c.(2251-2253)GCC>ACC	p.A751T		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCGGGGCAGGCGTGCGGCCGC	0.682		NaN											0	0	0	0.030593	0	28	44				
CSMD1	64478	broad.mit.edu	37	8	3326258	3326258	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr8:3326258G>A	uc011kwk.1	-	12	1930	c.1540C>T	c.(1540-1542)CCT>TCT	p.P514S		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	514	CUB 3.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTAAACCCAGGTGAGCCAATG	0.478		NaN											0	0	0	0.02938	0	7	9				
FAM120A	23196	broad.mit.edu	37	9	96320268	96320268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr9:96320268C>T	uc004atw.2	+	14	2669	c.2644C>T	c.(2644-2646)CAG>TAG	p.Q882*	FAM120A_uc004aty.2_Nonsense_Mutation_p.Q663*|FAM120A_uc004atz.2_Nonsense_Mutation_p.Q531*|FAM120A_uc010mrg.2_Nonsense_Mutation_p.Q195*	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	882	RNA binding.					cytoplasm|plasma membrane	RNA binding				0						CCCACCCTCTCAGGGCAGGGG	0.602		NaN											0	0	0	0.069234	0	10	3				
KIAA0368	23392	broad.mit.edu	37	9	114152334	114152334	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr9:114152334A>C	uc004bfe.1	-	31	3743	c.3743T>G	c.(3742-3744)CTT>CGT	p.L1248R		NM_001080398	NP_001073867			KIAA0368 protein												0						TGGCTGGCTAAGATCACTTGC	0.398		NaN											0	0	0	0.02938	0	6	6				
USP20	10868	broad.mit.edu	37	9	132614875	132614875	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr9:132614875T>G	uc004bys.2	+	3	252	c.41T>G	c.(40-42)ATA>AGA	p.I14R	USP20_uc004byr.2_Missense_Mutation_p.I14R|USP20_uc004byt.1_Missense_Mutation_p.I14R	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	14					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)				CTTGACTCCATAGGAGAGGTG	0.577		NaN											0	0	0	0.004672	0	2	4				
IL2RG	3561	broad.mit.edu	37	X	70331308	70331308	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chrX:70331308G>C	uc004dyw.1	-	1	96	c.82C>G	c.(82-84)CTG>GTG	p.L28V	IL2RG_uc004dyv.1_5'Flank|IL2RG_uc004dyx.1_5'UTR	NM_000206	NP_000197	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma precursor	28	Extracellular (Potential).				immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			pancreas(1)	1	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	TTGGGCGTCAGAATTGTCGTG	0.562		NaN							Severe_Combined_Immunodeficiency_X-linked				0	0	0	0.09319	0	12	9				
WBP5	51186	broad.mit.edu	37	X	102612724	102612724	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chrX:102612724G>A	uc004ekd.2	+	3	413	c.112G>A	c.(112-114)GAG>AAG	p.E38K	WBP5_uc004eke.2_Missense_Mutation_p.E38K|WBP5_uc004ekf.2_Missense_Mutation_p.E38K|WBP5_uc004ekg.2_Missense_Mutation_p.E38K	NM_001006612	NP_001006613	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	38	Glu-rich.										0						GCTAGAGGAGGAGGCCAAAGC	0.408		NaN											0	0	0	0.055883	0	21	13				
SRPK3	26576	broad.mit.edu	37	X	153049816	153049816	+	Silent	SNP	C	C	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chrX:153049816C>T	uc004fil.2	+	11	1247	c.1215C>T	c.(1213-1215)ATC>ATT	p.I405I	SRPK3_uc004fik.2_Silent_p.I471I|SRPK3_uc010nul.2_Silent_p.I329I|SRPK3_uc004fin.2_Silent_p.I404I|SRPK3_uc004fim.2_Silent_p.I371I	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	serine arginine rich protein-specific kinase 3	405	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			pancreas(2)|lung(1)	3	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATCAAGATCAAGATCGCAG	0.607		NaN											0	0	0	0.038147	0	8	6				
ARID1A	8289	broad.mit.edu	37	1	27099094	27099097	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			CAGT	-	CAGT	CAGT		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:27099094_27099097delCAGT	uc001bmv.1	+	13	3883_3886	c.3510_3513delCAGT	c.(3508-3513)CACAGTfs	p.H1170fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.H1170fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.H1170fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.H787fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.H17fs|ARID1A_uc009vsm.1_5'Flank|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1170_1171					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCACACCACACAGTCAGATCCCCC	0.564		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	10	36	---	Valid	---	---
ELF3	1999	broad.mit.edu	37	1	201981870	201981871	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:201981870_201981871insT	uc001gxg.3	+	4	3773_3774	c.581_582insT	c.(580-582)TCTfs	p.S194fs	ELF3_uc001gxi.3_Frame_Shift_Ins_p.S194fs|ELF3_uc001gxh.3_Frame_Shift_Ins_p.S194fs	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	194					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						CCTGGCAGCTCTGACGTCTCCA	0.663		NaN											NaN	NaN	NaN	NaN	NaN	16	31	---	Valid	---	---
TSNAX	7257	broad.mit.edu	37	1	231696991	231696995	+	Frame_Shift_Del	DEL	AAAAT	AAAAT	-			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr1:231696991_231696995delAAAAT	uc001huw.2	+	5	643_647	c.485_489delAAAAT	c.(484-489)GAAAATfs	p.E162fs	TSNAX-DISC1_uc010pwe.1_5'UTR|TSNAX-DISC1_uc010pwf.1_Intron|TSNAX-DISC1_uc010pwg.1_Intron|TSNAX-DISC1_uc010pwh.1_5'UTR|TSNAX-DISC1_uc010pwi.1_5'UTR|TSNAX-DISC1_uc010pwj.1_5'UTR|TSNAX-DISC1_uc010pwk.1_5'UTR|TSNAX-DISC1_uc010pwl.1_Intron	NM_005999	NP_005990	Q99598	TSNAX_HUMAN	translin-associated factor X	162_163	Interaction with C1D.				cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding				0		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				AATGGGAAAGAAAATAAAACTGTGA	0.273		NaN											NaN	NaN	NaN	NaN	NaN	10	33	---		---	---
KIAA1704	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr13:45580365_45580367delGAT	uc001uzq.2	+	3	353_355	c.250_252delGAT	c.(250-252)GATdel	p.D88del	KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	hypothetical protein LOC55425	88	Poly-Asp.									pancreas(1)|skin(1)	2		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		Ggatgatgacgatgatgatgatg	0.286		NaN											NaN	NaN	NaN	NaN	NaN	7	329	---		---	---
DHRS7B	25979	broad.mit.edu	37	17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:21094331_21094333delGAA	uc002gyo.2	+	7	870_872	c.843_845delGAA	c.(841-846)GGGAAG>GGG	p.K285del		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	285	Peroxisomal (Potential).					integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			pancreas(1)	1						CTGCTGTGGGGAAGAAGAAGAAA	0.507		NaN											NaN	NaN	NaN	NaN	NaN	11	1646	---		---	---
CASKIN2	57513	broad.mit.edu	37	17	73498817	73498819	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr17:73498817_73498819delAGG	uc002joc.2	-	18	2886_2888	c.2336_2338delCCT	c.(2335-2340)TCCTAC>TAC	p.S779del	CASKIN2_uc010wsc.1_In_Frame_Del_p.S697del	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	779	Pro-rich.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGGCCAAGTAGGAGAAGGCCCA	0.695		NaN											NaN	NaN	NaN	NaN	NaN	5	9	---		---	---
IFIH1	64135	broad.mit.edu	37	2	163174805	163174806	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr2:163174805_163174806insCC	uc002uce.2	-	1	234_235	c.12_13insGG	c.(10-15)GGGTATfs	p.G4fs	IFIH1_uc002ucf.2_Frame_Shift_Ins_p.G4fs	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	4_5					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						TCTGTGGAATACCCATTCGACA	0.53		NaN											NaN	NaN	NaN	NaN	NaN	22	62	---		---	---
HIST1H4L	8368	broad.mit.edu	37	6	27841112	27841114	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr6:27841112_27841114delAAG	uc003njz.2	-	1	176_178	c.175_177delCTT	c.(175-177)CTTdel	p.L59del	HIST1H3I_uc003njy.2_5'Flank	NM_003546	NP_003537	P62805	H4_HUMAN	histone cluster 1, H4l	59					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)|breast(1)	2						AAAACACTTTAAGAACTCCGCGT	0.552		NaN											NaN	NaN	NaN	NaN	NaN	12	41	---		---	---
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832	byFrequency	TCGA-BT-A20Q-01A-11D-A14W-08	TCGA-BT-A20Q-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c619cbc-9e91-4716-9711-5236e55d8f46	21d0907a-ac47-4a72-8f6c-74d25949fe11	g.chr9:138715799_138715800insT	uc004cgr.3	-	10	1396_1397	c.1396_1397insA	c.(1396-1398)ACCfs	p.T466fs	CAMSAP1_uc004cgq.3_Frame_Shift_Ins_p.T356fs|CAMSAP1_uc010nbg.2_Frame_Shift_Ins_p.T188fs	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	466						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.337		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
