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
SPEN	23013	broad.mit.edu	37	1	16260826	16260826	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:16260826G>C	uc001axk.1	+	11	8295	c.8091G>C	c.(8089-8091)GTG>GTC	p.V2697V	SPEN_uc010obp.1_Silent_p.V2656V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2697	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGGCCTGTGAATGTTCTTA	0.597		NaN											0	0	0	0.00308	0	7	63				
GSTM5	2949	broad.mit.edu	37	1	110257779	110257779	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:110257779G>C	uc001dyn.2	+	7	555	c.484G>C	c.(484-486)GAT>CAT	p.D162H	GSTM5_uc010ovu.1_Missense_Mutation_p.D121H	NM_000851	NP_000842	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	162	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			central_nervous_system(6)	6		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCTTGCCTATGATGTCCTTGA	0.468		NaN											0	0	0	0.006214	0	8	114				
NGF	4803	broad.mit.edu	37	1	115828746	115828746	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:115828746C>T	uc001efu.1	-	3	840	c.671G>A	c.(670-672)CGG>CAG	p.R224Q		NM_002506	NP_002497	P01138	NGF_HUMAN	nerve growth factor, beta polypeptide precursor	224					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			upper_aerodigestive_tract(2)	2	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CGTATCTATCCGGATAAACCG	0.572		NaN											0	0	0	0.00308	0	7	89				
ANKRD34A	284615	broad.mit.edu	37	1	145473839	145473839	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:145473839C>T	uc001enq.1	+	4	1804	c.511C>T	c.(511-513)CCT>TCT	p.P171S	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	171											0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTGGAGGACCCTGCTCCCGC	0.627		NaN											0	0	0	0.013726	0	27	77				
PI4KB	5298	broad.mit.edu	37	1	151271497	151271497	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:151271497A>C	uc001ext.2	-	9	2217	c.1802T>G	c.(1801-1803)CTT>CGT	p.L601R	PI4KB_uc001exr.2_Missense_Mutation_p.L613R|PI4KB_uc001exs.2_Missense_Mutation_p.L586R|PI4KB_uc001exu.2_Missense_Mutation_p.L586R|PI4KB_uc010pcw.1_Missense_Mutation_p.L269R	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	601	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGAAATCACAAGAATCTTGTA	0.468		NaN											0	0	0	0.01441	0	44	101				
ZBTB7B	51043	broad.mit.edu	37	1	154988705	154988705	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:154988705G>T	uc001fgk.3	+	4	1322	c.1164G>T	c.(1162-1164)AAG>AAT	p.K388N	ZBTB7B_uc009wpa.2_Missense_Mutation_p.K388N|ZBTB7B_uc001fgj.3_Missense_Mutation_p.K422N|ZBTB7B_uc010peq.1_Missense_Mutation_p.K422N|ZBTB7B_uc001fgl.3_Missense_Mutation_p.K388N	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	388	C2H2-type 2.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAACGACAAGCTGAAGATCC	0.632		NaN											1	0	7.34454e-26	0.01441	8.49987e-26	43	74				
SPTA1	6708	broad.mit.edu	37	1	158639226	158639226	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:158639226T>A	uc001fst.1	-	14	2004	c.1805A>T	c.(1804-1806)AAA>ATA	p.K602I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	602	Spectrin 7.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TGCCAACTTTTTCTTCTTGTT	0.388		NaN											0	0	0	0.01441	0	94	189				
RC3H1	149041	broad.mit.edu	37	1	173916585	173916585	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:173916585T>A	uc001gju.3	-	14	2746	c.2659A>T	c.(2659-2661)AAA>TAA	p.K887*	RC3H1_uc010pms.1_Nonsense_Mutation_p.K887*|RC3H1_uc001gjv.2_Nonsense_Mutation_p.K887*|RC3H1_uc010pmt.1_Nonsense_Mutation_p.K887*	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	887					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TATATAGTTTTGGAAGTTCGT	0.463		NaN											0	0	0	0.013537	0	8	80				
C1orf125	126859	broad.mit.edu	37	1	179335702	179335702	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:179335702A>G	uc001gmo.2	+	2	185	c.58A>G	c.(58-60)AAA>GAA	p.K20E	C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Intron|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.K20E	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	hypothetical protein LOC126859 isoform 1	20											0						ATCTGAGAGCAAAAAGTTAAA	0.418		NaN											0	0	0	0.013537	0	9	49				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:186276981A>G	uc001gru.3	+	7	2181	c.2130A>G	c.(2128-2130)AAA>AAG	p.K710K	PRG4_uc001grt.3_Silent_p.K669K|PRG4_uc009wyl.2_Silent_p.K617K|PRG4_uc009wym.2_Silent_p.K576K|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|43; approximate.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CTACCCCTAAAGGGACTGCTC	0.582		NaN											0	0	0	0.001168	0	6	118				
CR1	1378	broad.mit.edu	37	1	207758216	207758216	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:207758216G>A	uc001hfy.2	+	25	4315	c.4175G>A	c.(4174-4176)CGT>CAT	p.R1392H	CR1_uc009xcl.1_Missense_Mutation_p.R942H|CR1_uc001hfx.2_Missense_Mutation_p.R1842H	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1392	Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CTTTCTGTTCGTGCTGGTCAG	0.488		NaN											0	0	0	0.006122	0	16	160				
OR2T4	127074	broad.mit.edu	37	1	248525736	248525736	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:248525736G>T	uc001ieh.1	+	1	854	c.854G>T	c.(853-855)GGG>GTG	p.G285V		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	285	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCTTCTATGGGGCTGCCATC	0.552		NaN											1	0	2.94398e-08	0.007413	3.22585e-08	14	130				
E2F8	79733	broad.mit.edu	37	11	19258890	19258890	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:19258890A>C	uc001mpm.2	-	4	944	c.422T>G	c.(421-423)ATC>AGC	p.I141S	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.I141S|E2F8_uc001mpo.1_Missense_Mutation_p.I141S	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	141	Potential.				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1						GTCAAGGCAGATGTCATTATT	0.373		NaN											0	0	0	0.004482	0	7	36				
OR8H3	390152	broad.mit.edu	37	11	55890296	55890296	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:55890296G>C	uc001nii.1	+	1	448	c.448G>C	c.(448-450)GTG>CTG	p.V150L		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					TGGGCCTTATGTGATTGGCTT	0.453		NaN											0	0	0	0.003163	0	15	73				
GLYATL2	219970	broad.mit.edu	37	11	58604562	58604562	+	Missense_Mutation	SNP	T	T	C	rs140678694	by1000genomes	TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:58604562T>C	uc001nnd.3	-	5	533	c.402A>G	c.(400-402)ATA>ATG	p.I134M	GLYATL2_uc009ymq.2_Missense_Mutation_p.I134M	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	134						mitochondrion	glycine N-acyltransferase activity			ovary(1)|skin(1)	2		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GTAATTCCGGTATAAAGAGGA	0.388		NaN											0	0	0	0.000602	0	5	68				
SHANK2	22941	broad.mit.edu	37	11	70333340	70333340	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr11:70333340C>T	uc001oqc.2	-	21	3136	c.3058G>A	c.(3058-3060)GAG>AAG	p.E1020K	SHANK2_uc010rqn.1_Missense_Mutation_p.E432K|SHANK2_uc001opz.2_Missense_Mutation_p.E425K|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	641					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGGCTGTCCTCCACGTTGGAC	0.627		NaN											0	0	0	0.004007	0	12	195				
IQSEC3	440073	broad.mit.edu	37	12	248024	248024	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:248024G>A	uc001qhw.1	+	1	592	c.586G>A	c.(586-588)GTC>ATC	p.V196I	IQSEC3_uc001qhu.1_Missense_Mutation_p.V196I|IQSEC3_uc001qht.1_Missense_Mutation_p.V281I|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	499					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAACATATCCGTCTCCTCCTC	0.711		NaN											0	0	0	0.004672	0	3	31				
BAZ2A	11176	broad.mit.edu	37	12	57009072	57009072	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:57009072G>C	uc001slq.1	-	3	656	c.462C>G	c.(460-462)ACC>ACG	p.T154T	BAZ2A_uc001slp.1_Silent_p.T152T|BAZ2A_uc010sqr.1_Silent_p.T154T|BAZ2A_uc009zow.1_Silent_p.T152T	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	154					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						TGGGACTCTGGGTACCGTTGG	0.517		NaN											0	0	0	0.013537	0	11	31				
DNAH10	196385	broad.mit.edu	37	12	124416242	124416242	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr12:124416242G>A	uc001uft.3	+	74	12647	c.12622G>A	c.(12622-12624)GAA>AAA	p.E4208K	DNAH10_uc001ufu.3_Missense_Mutation_p.E121K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4208					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAAGAAATAGAAAACAAGAT	0.517		NaN											0	0	0	0.001984	0	7	26				
RB1	5925	broad.mit.edu	37	13	49039215	49039215	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr13:49039215A>T	uc001vcb.2	+	22	2459	c.2293A>T	c.(2293-2295)AAA>TAA	p.K765*		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	765	Interaction with LIMD1.|Pocket; binds T and E1A.|Domain B.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(8)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCAGAGACTGAAAACAAATAT	0.333		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0	0	0	0.010729	0	9	20		Valid		
UTP14C	9724	broad.mit.edu	37	13	52605023	52605023	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr13:52605023G>C	uc001vgb.2	+	2	2618	c.2083G>C	c.(2083-2085)GAA>CAA	p.E695Q	UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	695					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TCGGCAATTTGAAAGGACCAT	0.488		NaN											0	0	0	0.00308	0	6	126				
DACH1	1602	broad.mit.edu	37	13	72204709	72204709	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr13:72204709C>T	uc010thn.1	-	4	1528	c.1105G>A	c.(1105-1107)GGG>AGG	p.G369R	DACH1_uc010tho.1_Missense_Mutation_p.G369R|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	369	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTCATGTCCCCGTTTTCAGAG	0.343		NaN											0	0	0	0.000602	0	4	167				
MDGA2	161357	broad.mit.edu	37	14	47342656	47342656	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr14:47342656T>G	uc001wwj.3	-	14	2721	c.2525A>C	c.(2524-2526)CAC>CCC	p.H842P	MDGA2_uc001wwh.3_Missense_Mutation_p.H44P|MDGA2_uc001wwi.3_Missense_Mutation_p.H613P|MDGA2_uc010ani.2_Missense_Mutation_p.H402P	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	842	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						TCCATACATGTGATAAAAGAA	0.363		NaN											0	0	0	0.006214	0	8	59				
C15orf52	388115	broad.mit.edu	37	15	40627566	40627566	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:40627566G>A	uc001zlh.3	-	11	1414	c.1398C>T	c.(1396-1398)CAC>CAT	p.H466H	C15orf52_uc010ucn.1_Silent_p.H256H	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	466										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCTCAGCCTGGTGATTGCTCC	0.657		NaN											0	0	0	0.000602	0	5	17				
COPS2	9318	broad.mit.edu	37	15	49423006	49423006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:49423006G>A	uc001zxf.2	-	10	1034	c.955C>T	c.(955-957)CAG>TAG	p.Q319*	COPS2_uc001zxh.2_Nonsense_Mutation_p.Q326*|COPS2_uc010ufa.1_Nonsense_Mutation_p.Q255*	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	319	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TCATTATTCTGATAGGCACTA	0.303		NaN											0	0	0	0.000602	0	5	24				
GLDN	342035	broad.mit.edu	37	15	51675642	51675642	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:51675642G>T	uc002aba.2	+	3	594	c.425G>T	c.(424-426)GGA>GTA	p.G142V	GLDN_uc010bez.1_Missense_Mutation_p.D125Y|GLDN_uc002abb.2_Missense_Mutation_p.G18V	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	142	Extracellular (Potential).|Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGACCTTCTGGACCACCAGGT	0.502		NaN									OREG0023124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	2.39187e-15	0.008871	2.73737e-15	17	130				
CALML4	91860	broad.mit.edu	37	15	68492003	68492003	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:68492003G>T	uc002arb.2	-	3	914	c.180C>A	c.(178-180)TTC>TTA	p.F60L	CALML4_uc002arc.2_Intron|CALML4_uc002ard.2_RNA|CALML4_uc002are.2_Intron|CALML4_uc010bhz.2_Intron	NM_033429	NP_219501	Q96GE6	CALL4_HUMAN	calmodulin-like 4 isoform 1	60	EF-hand 1.			F -> S (in Ref. 1; AAG48255).			calcium ion binding				0						CATACAGGGAGAAGCATTCCT	0.627		NaN											1	0	2.7689e-08	0.001984	3.06663e-08	4	95				
HCN4	10021	broad.mit.edu	37	15	73616166	73616166	+	Silent	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr15:73616166C>A	uc002avp.2	-	8	3262	c.2268G>T	c.(2266-2268)GCG>GCT	p.A756A		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	756	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GGACGCGGTGCGCGCAGTGGG	0.632		NaN											1	0	3.86212e-05	0.008291	4.01816e-05	9	57				
MKL2	57496	broad.mit.edu	37	16	14312706	14312706	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr16:14312706C>G	uc010uza.1	+	8	699	c.544C>G	c.(544-546)CAG>GAG	p.Q182E	MKL2_uc002dcg.2_Missense_Mutation_p.Q182E|MKL2_uc002dch.2_Missense_Mutation_p.Q171E|MKL2_uc010uzb.1_Missense_Mutation_p.Q131E	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	171					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						TCCCCACACTCAGGGCGATTT	0.502		NaN											0	0	0	0.004482	0	7	50				
NSMCE1	197370	broad.mit.edu	37	16	27268804	27268804	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr16:27268804C>T	uc002doi.1	-	2	186	c.88G>A	c.(88-90)GAA>AAA	p.E30K	NSMCE1_uc002doj.1_RNA	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog	30					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding				0						ACGTCCCATTCCTCTAGCACG	0.582		NaN											0	0	0	0.012213	0	29	63				
CBFA2T3	863	broad.mit.edu	37	16	88952449	88952449	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr16:88952449G>A	uc002fmm.1	-	6	999	c.813C>T	c.(811-813)GAC>GAT	p.D271D	CBFA2T3_uc002fml.1_Silent_p.D185D|CBFA2T3_uc010cif.1_Silent_p.D210D|CBFA2T3_uc002fmn.1_Silent_p.D246D	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	271	Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AGGCGCTGGCGTCCAGCAGGA	0.657		NaN	T	RUNX1	AML								0	0	0	0.004672	0	2	3				
ASGR1	432	broad.mit.edu	37	17	7077348	7077348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:7077348C>T	uc002ges.3	-	8	1043	c.633G>A	c.(631-633)TGG>TGA	p.W211*	ASGR1_uc010clx.1_Nonsense_Mutation_p.W110*	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	211	Extracellular (Probable).|C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						GGAGGCCCATCCAGGTGTTCA	0.647		NaN											0	0	0	0.00245	0	12	67				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.010818	0	22	64		Valid		
ALOXE3	59344	broad.mit.edu	37	17	8012598	8012598	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:8012598A>C	uc010cnr.2	-	12	1826	c.1456T>G	c.(1456-1458)TAC>GAC	p.Y486D	ALOXE3_uc002gka.2_Missense_Mutation_p.Y642D|ALOXE3_uc010vuo.1_Missense_Mutation_p.Y618D	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	486	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						AAATTGGTGTAGGTGAAGTGG	0.657		NaN											0	0	0	0.004672	0	3	42				
AMAC1	146861	broad.mit.edu	37	17	33521026	33521026	+	Nonsense_Mutation	SNP	G	G	A	rs139972846		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:33521026G>A	uc002hjd.2	-	1	387	c.301C>T	c.(301-303)CGA>TGA	p.R101*		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	101	DUF6 1.					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)		GCCCGGCTTCGGATGTCAGGA	0.607		NaN											0	0	0	0.011902	0	43	133				
GGNBP2	79893	broad.mit.edu	37	17	34942489	34942489	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:34942489C>G	uc002hnb.2	+	12	1751	c.1502C>G	c.(1501-1503)TCT>TGT	p.S501C	GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.S330C	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	501					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGTGATGACTCTTGTGTTCAT	0.368		NaN											0	0	0	0.008871	0	17	75				
GJC1	10052	broad.mit.edu	37	17	42882050	42882050	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:42882050T>G	uc002ihj.2	-	2	1647	c.1136A>C	c.(1135-1137)AAC>ACC	p.N379T	GJC1_uc002ihk.2_Missense_Mutation_p.N379T|GJC1_uc002ihl.2_Missense_Mutation_p.N379T|GJC1_uc010czx.2_Missense_Mutation_p.N379T|GJC1_uc010czy.1_Missense_Mutation_p.N240T	NM_005497	NP_005488	P36383	CXG1_HUMAN	connexin 45	379	Cytoplasmic (Potential).				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane					0		Prostate(33;0.0959)				AGTGCTTTTGTTGGACCCAGC	0.517		NaN											0	0	0	0.007413	0	15	199				
TOM1L1	10040	broad.mit.edu	37	17	52981124	52981124	+	Silent	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:52981124C>A	uc002iud.2	+	2	289	c.114C>A	c.(112-114)ATC>ATA	p.I38I	TOM1L1_uc002iub.2_Silent_p.I3I|TOM1L1_uc002iuc.2_Silent_p.I38I|TOM1L1_uc010dca.1_Silent_p.I38I|TOM1L1_uc010wnb.1_Silent_p.I38I|TOM1L1_uc010wnc.1_Intron|TOM1L1_uc010dbz.2_Intron|TOM1L1_uc010wnd.1_Translation_Start_Site	NM_005486	NP_005477	O75674	TM1L1_HUMAN	target of myb1-like 1	38	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1						TCATGCACATCTGTGACATAA	0.428		NaN											1	0	3.09899e-07	0.004482	3.29067e-07	6	78				
BCAS3	54828	broad.mit.edu	37	17	58952079	58952079	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:58952079C>T	uc002iyv.3	+	9	750	c.641C>T	c.(640-642)ACG>ATG	p.T214M	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.T214M|BCAS3_uc002iyw.3_Missense_Mutation_p.T210M	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	214						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTACTTTCACGAAGAAATTC	0.328		NaN											0	0	0	0.000602	0	4	36				
BPTF	2186	broad.mit.edu	37	17	65871019	65871019	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:65871019A>G	uc002jgf.2	+	4	1808	c.1747A>G	c.(1747-1749)ACT>GCT	p.T583A	BPTF_uc002jge.2_Missense_Mutation_p.T583A|BPTF_uc010wqm.1_Missense_Mutation_p.T583A	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	696	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAGAATGAGACTGAGAATGA	0.363		NaN											0	0	0	0.001984	0	6	45				
C17orf28	283987	broad.mit.edu	37	17	72954437	72954437	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:72954437G>A	uc002jmj.3	-	11	1526	c.1377C>T	c.(1375-1377)GCC>GCT	p.A459A	C17orf28_uc010wrs.1_Silent_p.A258A	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	459						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					TGAGCAGGTCGGCGTGGGTCC	0.662		NaN									OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.003163	0	10	22				
SMAD4	4089	broad.mit.edu	37	18	48575203	48575203	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr18:48575203T>A	uc010xdp.1	+	3	935	c.397T>A	c.(397-399)TAC>AAC	p.Y133N	SMAD4_uc010xdo.1_RNA	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	133	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(4)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCCATATCACTACGAACGAGT	0.348		NaN							Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				0	0	0	0.004007	0	13	35				
DPP9	91039	broad.mit.edu	37	19	4704288	4704288	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:4704288C>T	uc002mba.2	-	6	713	c.455G>A	c.(454-456)CGG>CAG	p.R152Q	DPP9_uc002mbb.2_Missense_Mutation_p.R152Q|DPP9_uc002mbc.2_Missense_Mutation_p.R152Q	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	123					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CTCCTCCTCCCGAGAGTAGAC	0.642		NaN											0	0	0	0.008871	0	14	78				
MUC16	94025	broad.mit.edu	37	19	8999557	8999557	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:8999557T>G	uc002mkp.2	-	56	40822	c.40618A>C	c.(40618-40620)AAG>CAG	p.K13540Q	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.K357Q|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13542	SEA 10.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCCCCATCCTTCTTGGGCCTG	0.597		NaN											0	0	0	0.001984	0	7	41				
DHX34	9704	broad.mit.edu	37	19	47884572	47884572	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:47884572G>A	uc010xyn.1	+	16	3630	c.3289G>A	c.(3289-3291)GGG>AGG	p.G1097R	DHX34_uc010xyo.1_Missense_Mutation_p.G226R	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1097						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCCACAGGATGGGCCCCCAGG	0.672		NaN											0	0	0	0.010729	0	10	36				
SYT5	6861	broad.mit.edu	37	19	55690386	55690386	+	Silent	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:55690386C>A	uc002qjm.1	-	1	1084	c.24G>T	c.(22-24)CCG>CCT	p.P8P	SYT5_uc002qjp.2_Missense_Mutation_p.R63L|SYT5_uc002qjn.1_Silent_p.P8P|SYT5_uc002qjo.1_Silent_p.P8P	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	8	Vesicular (Potential).				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATGGAGGCCCCGGGGTTGGGG	0.667		NaN											1	0	3.09899e-07	0.004482	3.29067e-07	5	14				
NLRP4	147945	broad.mit.edu	37	19	56370501	56370501	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr19:56370501T>C	uc002qmd.3	+	3	2164	c.1742T>C	c.(1741-1743)ATT>ACT	p.I581T	NLRP4_uc002qmf.2_Missense_Mutation_p.I506T|NLRP4_uc010etf.2_Missense_Mutation_p.I412T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	581							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTTCATATTATTGACAACGTG	0.418		NaN											0	0	0	0.000602	0	5	37				
CAD	790	broad.mit.edu	37	2	27444089	27444089	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:27444089T>G	uc002rji.2	+	3	388	c.226T>G	c.(226-228)TTT>GTT	p.F76V	CAD_uc010eyw.2_Missense_Mutation_p.F76V	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	76	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCTACAGTGGTTTGAATCCTC	0.532		NaN											0	0	0	0.001855	0	9	56				
KCNG3	170850	broad.mit.edu	37	2	42720041	42720041	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:42720041C>A	uc002rsn.2	-	1	1197	c.601G>T	c.(601-603)GCC>TCC	p.A201S	MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.2_Missense_Mutation_p.A201S	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	201						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1						CGGTTGTCGGCGGCTGCGTTG	0.627		NaN											1	0	3.27435e-08	0.00245	3.55009e-08	11	26				
ATP6V1B1	525	broad.mit.edu	37	2	71190385	71190385	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:71190385G>A	uc002shj.2	+	10	1090	c.1003G>A	c.(1003-1005)GTG>ATG	p.V335M	ATP6V1B1_uc010fdv.2_Missense_Mutation_p.V335M|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.V293M	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	335					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			skin(1)	1						GGCGGGCCGCGTGGAGGGTCG	0.627		NaN											0	0	0	0.00308	0	6	87				
REG1A	5967	broad.mit.edu	37	2	79349974	79349974	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:79349974G>A	uc002snz.2	+	5	432	c.329G>A	c.(328-330)CGC>CAC	p.R110H	REG1A_uc010ysd.1_Missense_Mutation_p.R110H	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	110	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0						TAGAACCGCCGCTGGCACTGG	0.552		NaN											0	0	0	0.00499	0	14	139				
SLC9A4	389015	broad.mit.edu	37	2	103148843	103148843	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:103148843G>A	uc002tbz.3	+	12	2550	c.2093G>A	c.(2092-2094)CGG>CAG	p.R698Q		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	698	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						GCATGCTCTCGGATAGGGTCA	0.448		NaN											0	0	0	0.003163	0	14	79				
CCDC108	255101	broad.mit.edu	37	2	219892615	219892615	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr2:219892615G>A	uc002vjl.1	-	13	2052	c.1968C>T	c.(1966-1968)GTC>GTT	p.V656V	CCDC108_uc010fwa.1_Silent_p.V99V|CCDC108_uc010zkp.1_Silent_p.V645V|CCDC108_uc010zkq.1_Silent_p.V591V	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	656						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCTACCTCGACAGGCTCTA	0.617		NaN											0	0	0	0.006214	0	10	38				
RNF160	26046	broad.mit.edu	37	21	30316094	30316094	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr21:30316094T>C	uc002ymr.2	-	23	4266	c.4253A>G	c.(4252-4254)AAA>AGA	p.K1418R		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1372							ligase activity|zinc ion binding				0						TAAGTTTGTTTTTTGGTCAGC	0.388		NaN											0	0	0	0.005443	0	21	127				
CHAF1B	8208	broad.mit.edu	37	21	37781087	37781087	+	Silent	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr21:37781087A>C	uc002yvj.2	+	9	924	c.786A>C	c.(784-786)GTA>GTC	p.V262V		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	chromatin assembly factor 1 subunit B	262	WD 5.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			ovary(1)|skin(1)	2						GTGAAAATGTAATGAATACCA	0.353		NaN											0	0	0	0.004482	0	6	64				
C21orf56	84221	broad.mit.edu	37	21	47588241	47588241	+	Silent	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr21:47588241C>T	uc011afu.1	-	3	1587	c.525G>A	c.(523-525)AGG>AGA	p.R175R	C21orf56_uc002zii.2_Silent_p.R21R	NM_001142854	NP_001136326	Q9H0A9	CU056_HUMAN	hypothetical protein LOC84221 isoform 1	175							protein binding			skin(1)	1	Breast(49;0.214)			Colorectal(79;0.241)		AGTAGCTCCTCCTGGTCCTGT	0.662		NaN											0	0	0	0.001168	0	5	48				
SEZ6L	23544	broad.mit.edu	37	22	26743810	26743810	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr22:26743810G>A	uc003acb.2	+	11	2494	c.2338G>A	c.(2338-2340)GTG>ATG	p.V780M	SEZ6L_uc003acc.2_Missense_Mutation_p.V780M|SEZ6L_uc011akc.1_Missense_Mutation_p.V780M|SEZ6L_uc003acd.2_Missense_Mutation_p.V780M|SEZ6L_uc011akd.1_Missense_Mutation_p.V780M|SEZ6L_uc003ace.2_Missense_Mutation_p.V780M|SEZ6L_uc003acf.1_Missense_Mutation_p.V553M|SEZ6L_uc010gvc.1_Missense_Mutation_p.V553M|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	780	Sushi 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CTATGACATCGTGGGGAGTGA	0.552		NaN											0	0	0	0.01441	0	43	74				
CELSR1	9620	broad.mit.edu	37	22	46931440	46931440	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr22:46931440G>C	uc003bhw.1	-	1	1628	c.1628C>G	c.(1627-1629)CCG>CGG	p.P543R		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	543	Extracellular (Potential).|Cadherin 3.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATTGATGAGCGGGGGCCGGCC	0.582		NaN											0	0	0	0.00245	0	13	82				
HDAC10	83933	broad.mit.edu	37	22	50688081	50688081	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr22:50688081G>C	uc003bkg.2	-	6	919	c.546C>G	c.(544-546)CTC>CTG	p.L182L	HDAC10_uc003bke.2_5'UTR|HDAC10_uc003bkf.2_5'UTR|HDAC10_uc010hav.2_Silent_p.L182L|HDAC10_uc003bkh.2_Missense_Mutation_p.S11C|HDAC10_uc003bki.2_Silent_p.L182L|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_5'Flank	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1	182	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATCCTCAAAGAGATACTGGA	0.622		NaN											0	0	0	0.001984	0	5	59				
CCDC13	152206	broad.mit.edu	37	3	42777325	42777325	+	Silent	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:42777325C>T	uc003cly.3	-	10	1329	c.1245G>A	c.(1243-1245)CTG>CTA	p.L415L		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	415	Potential.									ovary(1)	1						GTTGCTGGTCCAGGTGGTGCT	0.632		NaN											0	0	0	0.013537	0	12	54				
MYNN	55892	broad.mit.edu	37	3	169502469	169502469	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:169502469A>T	uc003fft.2	+	7	1972	c.1543A>T	c.(1543-1545)AAG>TAG	p.K515*	MYNN_uc011bpm.1_Nonsense_Mutation_p.K401*|MYNN_uc003ffu.2_Nonsense_Mutation_p.K515*|MYNN_uc003ffv.2_Nonsense_Mutation_p.K242*|MYNN_uc010hwo.2_Intron|MYNN_uc003ffw.1_RNA	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	515	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TAAAAATTTAAAGAAGCACAA	0.234		NaN											0	0	0	0.009096	0	3	20				
PIK3CA	5290	broad.mit.edu	37	3	178919316	178919316	+	Silent	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:178919316G>C	uc003fjk.2	+	4	958	c.801G>C	c.(799-801)CTG>CTC	p.L267L		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	267	PI3K-RBD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATATCCTCTGAGTCAGTATA	0.264		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			0	0	0	0.004672	0	3	28				
TIGD2	166815	broad.mit.edu	37	4	90034354	90034354	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr4:90034354G>C	uc003hsk.2	+	1	387	c.229G>C	c.(229-231)GAG>CAG	p.E77Q	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	77	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		ATCAACATACGAGGAGCTTGA	0.363		NaN											0	0	0	0.010729	0	10	60				
DNAH5	1767	broad.mit.edu	37	5	13753654	13753654	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:13753654A>C	uc003jfd.2	-	63	10602	c.10560T>G	c.(10558-10560)GAT>GAG	p.D3520E	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3520					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CCAACAGTACATCCCCTAAAA	0.343		NaN							Kartagener_syndrome				0	0	0	0.004672	0	3	33				
CDH10	1008	broad.mit.edu	37	5	24492938	24492938	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:24492938G>C	uc003jgr.1	-	10	1944	c.1612C>G	c.(1612-1614)CAG>GAG	p.Q538E	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	538	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TCATTATCCTGTACTGTGAAG	0.348		NaN								HNSCC(23;0.051)			0	0	0	0.001984	0	5	114				
CDH6	1004	broad.mit.edu	37	5	31323023	31323023	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:31323023G>C	uc003jhe.1	+	12	2307	c.1981G>C	c.(1981-1983)GAC>CAC	p.D661H		NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	661	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						CAGTTACAACGACGAAGGTGG	0.488		NaN											0	0	0	0.010729	0	11	48				
NR2F1	7025	broad.mit.edu	37	5	92923892	92923892	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:92923892A>G	uc003kkj.2	+	2	2420	c.733A>G	c.(733-735)ATC>GTC	p.I245V		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	245					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GGATCTGCAGATCACCGACCA	0.647		NaN											0	0	0	0.004656	0	19	85				
IL17B	27190	broad.mit.edu	37	5	148753933	148753933	+	Nonstop_Mutation	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:148753933C>G	uc003lqo.2	-	3	592	c.542G>C	c.(541-543)TGA>TCA	p.*181S		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	interleukin 17B precursor	181					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)			CCAGGTGATTCAGAAGATGCA	0.587		NaN											0	0	0	0.000602	0	4	61				
CSNK1A1	1452	broad.mit.edu	37	5	148904715	148904715	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:148904715C>T	uc003lqx.1	-	3	730	c.250G>A	c.(250-252)GAC>AAC	p.D84N	CSNK1A1_uc011dcc.1_5'UTR|CSNK1A1_uc003lqv.1_5'UTR|CSNK1A1_uc003lqw.1_Missense_Mutation_p.D84N|CSNK1A1_uc003lqy.1_Missense_Mutation_p.D84N|CSNK1A1_uc010jha.1_Missense_Mutation_p.D84N	NM_001892	NP_001883	P48729	KC1A_HUMAN	casein kinase 1, alpha 1 isoform 2	84	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ACATTGTAGTCTTTTTCCTGA	0.358		NaN											0	0	0	0.001168	0	5	14				
SERPINB9	5272	broad.mit.edu	37	6	2896393	2896393	+	Missense_Mutation	SNP	T	T	C	rs146337993		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:2896393T>C	uc003mug.2	-	3	321	c.200A>G	c.(199-201)CAT>CGT	p.H67R	uc003mue.2_Intron	NM_004155	NP_004146	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B, member 9	67					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAAAGCCCGATGAATGTCTTC	0.463		NaN											0	0	0	0.00278	0	18	75				
HIST1H1T	3010	broad.mit.edu	37	6	26107884	26107884	+	Silent	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:26107884A>G	uc003ngj.2	-	1	481	c.438T>C	c.(436-438)ACT>ACC	p.T146T		NM_005323	NP_005314	P22492	H1T_HUMAN	histone cluster 1, H1t	146					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			ovary(2)	2						TGGTTTTAGCAGTCTTTGGTG	0.463		NaN											0	0	0	0.001168	0	6	52				
KIFC1	3833	broad.mit.edu	37	6	33371659	33371659	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:33371659A>G	uc003oef.3	+	6	959	c.509A>G	c.(508-510)CAG>CGG	p.Q170R	KIFC1_uc011drf.1_Missense_Mutation_p.Q162R	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	170	Potential.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						CTTCAGGACCAGCTCAGAGAT	0.557		NaN											0	0	0	0.00308	0	6	96				
HECW1	23072	broad.mit.edu	37	7	43532701	43532701	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr7:43532701T>C	uc003tid.1	+	19	3964	c.3359T>C	c.(3358-3360)GTG>GCG	p.V1120A	HECW1_uc011kbi.1_Missense_Mutation_p.V1086A	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1120					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GACAAGATTGTGGCATTTCTT	0.463		NaN											0	0	0	0.004007	0	12	49				
TAS2R40	259286	broad.mit.edu	37	7	142919393	142919393	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr7:142919393G>T	uc011ksx.1	+	1	222	c.222G>T	c.(220-222)ATG>ATT	p.M74I		NM_176882	NP_795363	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	74	Helical; Name=2; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1	Melanoma(164;0.059)					AGATTTGGATGATGCTGGAGA	0.453		NaN											1	0	2.7689e-08	0.001984	3.06663e-08	7	87				
C8orf86	389649	broad.mit.edu	37	8	38373959	38373959	+	Silent	SNP	C	C	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:38373959C>T	uc003xlx.1	-	2	412	c.387G>A	c.(385-387)GTG>GTA	p.V129V		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	hypothetical protein LOC389649	129											0						AATGAGAGATCACTGTGGGCT	0.418		NaN											0	0	0	0.01441	0	35	113				
C8orf86	389649	broad.mit.edu	37	8	38374031	38374031	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:38374031C>G	uc003xlx.1	-	2	341	c.316_splice	c.e2-1	p.A106_splice		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	hypothetical protein LOC389649												0						TCTCATAAGCCTAGAGACAGG	0.423		NaN											0	0	0	0.013537	0	10	68				
RB1CC1	9821	broad.mit.edu	37	8	53573712	53573712	+	Silent	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr8:53573712G>A	uc003xre.3	-	10	2046	c.1488C>T	c.(1486-1488)TAC>TAT	p.Y496Y	RB1CC1_uc003xrf.3_Silent_p.Y496Y	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	496					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAGCTAAGCAGTACATCTGAG	0.363		NaN											0	0	0	0.003163	0	10	47				
IL33	90865	broad.mit.edu	37	9	6251156	6251156	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:6251156A>T	uc003zjt.2	+	4	291	c.234A>T	c.(232-234)AGA>AGT	p.R78S	IL33_uc011lmg.1_Missense_Mutation_p.R78S|IL33_uc011lmh.1_Intron|IL33_uc003zju.1_Missense_Mutation_p.R78S	NM_033439	NP_254274	O95760	IL33_HUMAN	interleukin 33 precursor	78					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity				0		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AGCACAAAAGACATCTGGTAC	0.478		NaN											0	0	0	0.010504	0	18	55				
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:35906559A>C	uc003zyr.1	+	1	371	c.275A>C	c.(274-276)CAC>CCC	p.H92P	LOC158376_uc003zys.1_5'Flank	NM_001039792	NP_001034881	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral to membrane					0						caccaccaccacccccgccac	0.393		NaN											0	0	0	0.003163	0	5	13				
PCSK5	5125	broad.mit.edu	37	9	78772065	78772065	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:78772065G>A	uc004ajz.2	+	11	1955	c.1417G>A	c.(1417-1419)GAC>AAC	p.D473N	PCSK5_uc004ajy.2_Missense_Mutation_p.D473N|PCSK5_uc004aka.2_RNA	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	473	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						GGAGAGCACAGACCGACAAAT	0.522		NaN											0	0	0	0.008291	0	11	84				
OR13C8	138802	broad.mit.edu	37	9	107331818	107331818	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:107331818G>T	uc011lvo.1	+	1	370	c.370G>T	c.(370-372)GTG>TTG	p.V124L		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGACCGCTATGTGGCCATCTG	0.537		NaN											1	0	4.14922e-12	0.004007	4.69637e-12	13	47				
TTF1	7270	broad.mit.edu	37	9	135277170	135277170	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr9:135277170C>A	uc004cbl.2	-	2	1091	c.1039G>T	c.(1039-1041)GTG>TTG	p.V347L	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	347					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GGCATGGCCACTGCCTCAAAT	0.483		NaN											1	0	2.56e-06	0.009096	2.69061e-06	4	107				
CDR1	1038	broad.mit.edu	37	X	139866364	139866364	+	Silent	SNP	A	A	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chrX:139866364A>G	uc004fbg.1	-	1	360	c.168T>C	c.(166-168)GAT>GAC	p.D56D	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	56	23 X 6 AA approximate repeats.|9.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CTTCCAGCAAATCCACGTCTT	0.438		NaN											0	0	0	0.004672	0	3	46				
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530506	+	Frame_Shift_Del	DEL	G	G	-	rs149280379		TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr1:150530506delG	uc001eux.2	+	14	2499	c.2263delG	c.(2263-2265)GGGfs	p.G755fs	ADAMTSL4_uc001euw.2_Frame_Shift_Del_p.G755fs|ADAMTSL4_uc009wlw.2_Frame_Shift_Del_p.G778fs|ADAMTSL4_uc010pcg.1_Frame_Shift_Del_p.G716fs|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	755	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAATTTGGGGGGGGTGG	0.692		NaN											NaN	NaN	NaN	NaN	NaN	7	248	---		---	---
KIF1C	10749	broad.mit.edu	37	17	4905382	4905382	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:4905382delG	uc002gan.1	+	6	718	c.392delG	c.(391-393)AGTfs	p.S131fs		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	131	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						TCTCGCGTTAGTGAGAACCAG	0.448		NaN											NaN	NaN	NaN	NaN	NaN	33	115	---		---	---
SMCR7	125170	broad.mit.edu	37	17	18167412	18167412	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr17:18167412delC	uc002gst.2	+	4	910	c.699delC	c.(697-699)TGCfs	p.C233fs	SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Frame_Shift_Del_p.C244fs	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	233						integral to membrane	protein binding				0	all_neural(463;0.228)					TTGAGTTCTGCCCCCGTGGGA	0.706		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr3:55733470_55733472delTGG	uc003dhr.1	-	16	3037_3039	c.2781_2783delCCA	c.(2779-2784)CACCAT>CAT	p.927_928HH>H	ERC2_uc003dhq.1_RNA	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	927_928	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.389		NaN											NaN	NaN	NaN	NaN	NaN	9	464	---		---	---
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr4:146077123_146077125delCAG	uc003ika.3	-	8	596_598	c.458_460delCTG	c.(457-462)GCTGAT>GAT	p.A153del	OTUD4_uc003ijz.3_In_Frame_Del_p.A153del	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	218							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34		NaN											NaN	NaN	NaN	NaN	NaN	8	264	---		---	---
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:140032593_140032594delGA	uc003lgq.2	+	5	378_379	c.268_269delGA	c.(268-270)GAGfs	p.E90fs	IK_uc011czk.1_Frame_Shift_Del_p.E90fs	NM_006083	NP_006074	Q13123	RED_HUMAN	RED protein	90					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.46		NaN											NaN	NaN	NaN	NaN	NaN	7	50	---		---	---
SPRY4	81848	broad.mit.edu	37	5	141694361	141694363	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr5:141694361_141694363delTGC	uc003lml.2	-	2	570_572	c.311_313delGCA	c.(310-315)AGCACA>ACA	p.S104del	SPRY4_uc010jgi.1_In_Frame_Del_p.S127del	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	sprouty homolog 4 isoform 2	104	Poly-Ser.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			ovary(1)|lung(1)	2		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGGATGTGCTGCTGCTGCT	0.66		NaN							Testicular_Cancer_Familial_Clustering_of				NaN	NaN	NaN	NaN	NaN	8	212	---		---	---
CDKN1A	1026	broad.mit.edu	37	6	36652009	36652010	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr6:36652009_36652010insG	uc003omm.3	+	2	253_254	c.131_132insG	c.(130-132)GAGfs	p.E44fs	CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.E78fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.E44fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.E44fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	44					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						TGCATCCAGGAGGCCCGTGAGC	0.658		NaN							Multiple_Endocrine_Neoplasia_type_1				NaN	NaN	NaN	NaN	NaN	12	65	---	Valid	---	---
ACTB	60	broad.mit.edu	37	7	5567428	5567429	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3B7-01A-31D-A20D-08	TCGA-FD-A3B7-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc76c5bd-315d-4981-ae53-705f40d2c078	1e82025a-5704-46e6-ac57-8f4318969cc5	g.chr7:5567428_5567429insG	uc003sos.3	-	5	1114_1115	c.1078_1079insC	c.(1078-1080)CAGfs	p.Q360fs	ACTB_uc003sor.3_Frame_Shift_Ins_p.Q238fs|ACTB_uc003sot.3_Frame_Shift_Ins_p.Q360fs|ACTB_uc003soq.3_Frame_Shift_Ins_p.Q238fs|ACTB_uc010ksy.2_Frame_Shift_Ins_p.Q238fs	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	360					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GTCATACTCCTGCTTGCTGATC	0.55		NaN											NaN	NaN	NaN	NaN	NaN	27	351	---		---	---
