Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	filter
ZNF683	257101	broad.mit.edu	37	1	26688385	26688385	+	Silent	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:26688385G>A	uc001bmg.1	-	7	1450	c.1332C>T	c.(1330-1332)CAC>CAT	p.H444H	ZNF683_uc001bmh.1_Silent_p.H424H|ZNF683_uc009vsj.1_Silent_p.H424H	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	444	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GCAGCCGATGGTGCAGCTTCA	0.667													13	21	---	---	---	---	PASS
SFN	2810	broad.mit.edu	37	1	27190282	27190282	+	Silent	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:27190282G>A	uc001bnc.1	+	1	650	c.579G>A	c.(577-579)CTG>CTA	p.L193L	uc010ofi.1_RNA	NM_006142	NP_006133	P31947	1433S_HUMAN	stratifin	193					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CCATCTCTCTGGCCAAGACCA	0.607													7	66	---	---	---	---	PASS
PDE4DIP	9659	broad.mit.edu	37	1	144879369	144879369	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:144879369G>T	uc001elw.3	-	27	4372	c.4081C>A	c.(4081-4083)CTG>ATG	p.L1361M	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.L1317M|PDE4DIP_uc001elv.3_Missense_Mutation_p.L368M	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1361	Potential.				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)		TGGGCCTTCAGATCTTTGATG	0.488			T	PDGFRB	MPD								19	124	---	---	---	---	PASS
ANKRD34A	284615	broad.mit.edu	37	1	145473602	145473602	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:145473602G>T	uc001enq.1	+	4	1567	c.274G>T	c.(274-276)GCG>TCG	p.A92S	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	92	ANK 3.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGGGGCGCCGCGGTGGCCTC	0.716													11	43	---	---	---	---	PASS
PBX1	5087	broad.mit.edu	37	1	164761954	164761954	+	Silent	SNP	G	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:164761954G>C	uc001gct.2	+	3	747	c.489G>C	c.(487-489)ACG>ACC	p.T163T	PBX1_uc010pku.1_Silent_p.T163T|PBX1_uc010pkv.1_Silent_p.T80T|PBX1_uc001gcs.2_Silent_p.T163T|PBX1_uc010pkw.1_Silent_p.T53T	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	163					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						TCTACCATACGGAGCTGGAGA	0.502			T	TCF3|EWSR1	pre B-ALL|myoepithelioma								8	33	---	---	---	---	PASS
TDRD5	163589	broad.mit.edu	37	1	179561770	179561770	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:179561770T>C	uc001gnf.1	+	2	270	c.20T>C	c.(19-21)ATA>ACA	p.I7T	TDRD5_uc010pnp.1_Missense_Mutation_p.I7T|uc010pno.1_5'Flank	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	7					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						CAAGAGCGTATACAGGAATGT	0.448													42	127	---	---	---	---	PASS
LAD1	3898	broad.mit.edu	37	1	201353941	201353941	+	Missense_Mutation	SNP	G	A	A	rs138044157		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:201353941G>A	uc001gwm.2	-	5	1389	c.1154C>T	c.(1153-1155)TCG>TTG	p.S385L	LAD1_uc009wzu.1_Missense_Mutation_p.S407L	NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	385						basement membrane	structural molecule activity				0						GGTTGTTTCCGAGTTTTCTTT	0.542													7	185	---	---	---	---	PASS
USH2A	7399	broad.mit.edu	37	1	216011348	216011348	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:216011348C>A	uc001hku.1	-	47	9743	c.9356G>T	c.(9355-9357)CGT>CTT	p.R3119L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3119	Extracellular (Potential).|Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGTGATGCCACGAATTGTGGG	0.393										HNSCC(13;0.011)			22	27	---	---	---	---	PASS
ZNF238	10472	broad.mit.edu	37	1	244218490	244218490	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:244218490G>T	uc001iae.2	+	1	1909	c.1387G>T	c.(1387-1389)GAG>TAG	p.E463*	ZNF238_uc001iad.3_Nonsense_Mutation_p.E472*|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	463					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			GCACACCCGCGAGAAGCCGCA	0.612													19	73	---	---	---	---	PASS
VN1R5	317705	broad.mit.edu	37	1	247420223	247420223	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:247420223G>T	uc010pyu.1	+	2	850	c.850G>T	c.(850-852)GAC>TAC	p.D284Y		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	vomeronasal 1 receptor 5	284	Helical; Name=6; (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			ATACTGGGTGGACTTTACGTT	0.493													14	158	---	---	---	---	PASS
SLC3A1	6519	broad.mit.edu	37	2	44507894	44507894	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr2:44507894T>C	uc002ruc.3	+	2	548	c.470T>C	c.(469-471)ATA>ACA	p.I157T	SLC3A1_uc002rty.2_Missense_Mutation_p.I157T|SLC3A1_uc002rtz.2_Missense_Mutation_p.I157T|SLC3A1_uc002rua.2_Missense_Mutation_p.I157T|SLC3A1_uc002rub.2_Missense_Mutation_p.I157T	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	157	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GCTTTAAATATAAAAACTGTT	0.313													10	18	---	---	---	---	PASS
C2orf3	6936	broad.mit.edu	37	2	75919142	75919142	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr2:75919142C>T	uc002sno.2	-	7	1235	c.1105G>A	c.(1105-1107)GAA>AAA	p.E369K	C2orf3_uc010ffs.2_Intron|C2orf3_uc002snn.2_Missense_Mutation_p.E200K|C2orf3_uc010fft.2_Missense_Mutation_p.E44K	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	369					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TGTTTTAATTCATCTTGCCTG	0.299													4	3	---	---	---	---	PASS
UGT1A7	54577	broad.mit.edu	37	2	234591377	234591377	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr2:234591377T>A	uc002vut.2	+	1	794	c.794T>A	c.(793-795)GTG>GAG	p.V265E	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.V265E	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN	UDP glycosyltransferase 1 family, polypeptide A7	265					drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCAAACCCGTGATGCCCAAT	0.433													31	66	---	---	---	---	PASS
METTL6	131965	broad.mit.edu	37	3	15466468	15466468	+	Nonsense_Mutation	SNP	A	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:15466468A>T	uc003bzs.1	-	3	612	c.354T>A	c.(352-354)TAT>TAA	p.Y118*	METTL6_uc011avp.1_Intron|METTL6_uc003bzt.1_Nonsense_Mutation_p.Y118*	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	methyltransferase like 6	118							methyltransferase activity				0						CAACCTTAACATATTCAATGG	0.393													29	18	---	---	---	---	PASS
BSN	8927	broad.mit.edu	37	3	49691576	49691576	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:49691576G>T	uc003cxe.3	+	5	4701	c.4587G>T	c.(4585-4587)ATG>ATT	p.M1529I		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1529					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CATCACCTATGGTAGCCCAGG	0.612													42	32	---	---	---	---	PASS
ROBO2	6092	broad.mit.edu	37	3	77651403	77651403	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:77651403C>T	uc003dpy.3	+	20	3540	c.2897C>T	c.(2896-2898)ACG>ATG	p.T966M	ROBO2_uc003dpz.2_Missense_Mutation_p.T970M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T970M|ROBO2_uc003dqa.2_Missense_Mutation_p.T93M	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	966	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAAACAGCAACGATGCTCTCA	0.458													8	50	---	---	---	---	PASS
ZXDC	79364	broad.mit.edu	37	3	126180727	126180727	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:126180727T>C	uc003eiv.2	-	6	1832	c.1778A>G	c.(1777-1779)CAG>CGG	p.Q593R	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.Q593R	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	593	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)		GAAGCTGCCCTGCTGCAGAAC	0.602													44	38	---	---	---	---	PASS
SERPINI1	5274	broad.mit.edu	37	3	167510549	167510549	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:167510549A>G	uc003ffa.3	+	4	851	c.653A>G	c.(652-654)TAT>TGT	p.Y218C	SERPINI1_uc003ffb.3_Missense_Mutation_p.Y218C	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN	neuroserpin precursor	218					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1						CCAATGATGTATCAGCAAGGA	0.328													7	38	---	---	---	---	PASS
ACTL6A	86	broad.mit.edu	37	3	179301162	179301162	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:179301162G>A	uc003fjw.2	+	12	1221	c.1048G>A	c.(1048-1050)GTG>ATG	p.V350M	ACTL6A_uc003fjx.2_Missense_Mutation_p.V308M|ACTL6A_uc003fjy.2_Missense_Mutation_p.V308M	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	350					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CAGTGTAATAGTGGCAGGAGG	0.343													10	22	---	---	---	---	PASS
PTPN13	5783	broad.mit.edu	37	4	87622769	87622769	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr4:87622769C>G	uc003hpz.2	+	7	1490	c.1010C>G	c.(1009-1011)CCT>CGT	p.P337R	PTPN13_uc003hpy.2_Missense_Mutation_p.P337R|PTPN13_uc003hqa.2_Missense_Mutation_p.P337R|PTPN13_uc003hqb.2_Missense_Mutation_p.P337R	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	337						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAACTACTCCTAGAAAAAAG	0.463													20	43	---	---	---	---	PASS
KIAA1109	84162	broad.mit.edu	37	4	123160881	123160881	+	Silent	SNP	T	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr4:123160881T>C	uc003ieh.2	+	27	4089	c.4044T>C	c.(4042-4044)AGT>AGC	p.S1348S	KIAA1109_uc003iei.1_Silent_p.S1101S|KIAA1109_uc010ins.1_Silent_p.S691S|KIAA1109_uc003iek.2_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1348					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TCTCTCGAAGTGATGAGAATG	0.433													11	14	---	---	---	---	PASS
FAT4	79633	broad.mit.edu	37	4	126373089	126373089	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr4:126373089G>A	uc003ifj.3	+	9	10918	c.10918G>A	c.(10918-10920)GAT>AAT	p.D3640N	FAT4_uc011cgp.1_Missense_Mutation_p.D1938N|FAT4_uc003ifi.1_Missense_Mutation_p.D1118N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	3640	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAAGCCACAGGATCCAGATGT	0.463													10	24	---	---	---	---	PASS
CCDC111	201973	broad.mit.edu	37	4	185580549	185580549	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr4:185580549T>G	uc003iwk.2	+	4	669	c.236T>G	c.(235-237)CTT>CGT	p.L79R	CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Missense_Mutation_p.L79R|CCDC111_uc003iwl.2_Missense_Mutation_p.L79R|CCDC111_uc003iwm.2_5'UTR|CCDC111_uc003iwn.2_5'UTR	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	coiled-coil domain containing 111	79					DNA replication, synthesis of RNA primer		DNA primase activity			central_nervous_system(1)	1		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		CGTATTTACCTTGTGACAACC	0.368													14	24	---	---	---	---	PASS
TRIML1	339976	broad.mit.edu	37	4	189065213	189065213	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr4:189065213G>T	uc003izm.1	+	5	897	c.782G>T	c.(781-783)TGT>TTT	p.C261F	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	261					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TTGCTTCAGTGTCCAGAGGCC	0.547													21	26	---	---	---	---	PASS
SLC9A3	6550	broad.mit.edu	37	5	480068	480068	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr5:480068G>T	uc003jbe.2	-	10	1642	c.1530C>A	c.(1528-1530)TTC>TTA	p.F510L	SLC9A3_uc011clx.1_Missense_Mutation_p.F501L|uc011cly.1_RNA	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	510	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACTTCCTGTCGAAGTGGGACC	0.617													16	102	---	---	---	---	PASS
ADCY2	108	broad.mit.edu	37	5	7706958	7706958	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr5:7706958A>G	uc003jdz.1	+	8	1278	c.1211A>G	c.(1210-1212)GAT>GGT	p.D404G	ADCY2_uc011cmo.1_Missense_Mutation_p.D224G	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	404	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TGGCAATATGATGTGTGGTCA	0.512													35	64	---	---	---	---	PASS
MIER3	166968	broad.mit.edu	37	5	56219584	56219584	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr5:56219584G>C	uc003jrd.1	-	12	1154	c.1129C>G	c.(1129-1131)CGG>GGG	p.R377G	MIER3_uc003jqz.1_Missense_Mutation_p.R314G|MIER3_uc003jra.1_Missense_Mutation_p.R376G|MIER3_uc003jrb.1_Missense_Mutation_p.R201G|MIER3_uc003jrc.1_Missense_Mutation_p.R382G	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GGCTCAGGCCGGTTAGAAGTT	0.423													20	8	---	---	---	---	PASS
KIF3A	11127	broad.mit.edu	37	5	132039185	132039185	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr5:132039185T>C	uc003kxo.2	-	10	1509	c.1355A>G	c.(1354-1356)GAG>GGG	p.E452G	KIF3A_uc003kxm.2_Missense_Mutation_p.E34G|KIF3A_uc003kxn.2_Missense_Mutation_p.E437G|KIF3A_uc011cxf.1_Missense_Mutation_p.E479G|KIF3A_uc003kxp.2_Missense_Mutation_p.E455G	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	452	Potential.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCCGTTTCTCTAATTCAGC	0.328													9	7	---	---	---	---	PASS
PCDHB4	56131	broad.mit.edu	37	5	140502858	140502858	+	Silent	SNP	G	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr5:140502858G>C	uc003lip.1	+	1	1278	c.1278G>C	c.(1276-1278)GGG>GGC	p.G426G		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	426	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGACTTGGGGACACCCAGGC	0.542													51	36	---	---	---	---	PASS
HLA-DPA1	3113	broad.mit.edu	37	6	33037649	33037649	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr6:33037649T>A	uc003ocs.1	-	2	146	c.115A>T	c.(115-117)ACT>TCT	p.T39S	HLA-DPA1_uc010juk.2_Missense_Mutation_p.T39S|HLA-DPA1_uc003oct.1_Missense_Mutation_p.T39S	NM_033554	NP_291032	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP	39	Alpha-1.|Extracellular (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			skin(1)	1						GCGGCATAAGTTGACACATGG	0.398													15	40	---	---	---	---	PASS
VPS52	6293	broad.mit.edu	37	6	33235042	33235042	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr6:33235042G>A	uc003odm.1	-	11	1258	c.1048C>T	c.(1048-1050)CGC>TGC	p.R350C	VPS52_uc003odn.1_Intron	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52	350					protein transport	endosome membrane|Golgi apparatus				ovary(4)|skin(1)	5						ACAGAGCCGCGGGTTCCTAGG	0.557													25	37	---	---	---	---	PASS
TRDN	10345	broad.mit.edu	37	6	123588862	123588862	+	Silent	SNP	A	G	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr6:123588862A>G	uc003pzj.1	-	32	1795	c.1773T>C	c.(1771-1773)TCT>TCC	p.S591S	TRDN_uc010kem.1_Silent_p.S92S	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	591	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)		CTGTTTTTATAGATGGAGGTT	0.269													3	1	---	---	---	---	PASS
INHBA	3624	broad.mit.edu	37	7	41729508	41729508	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr7:41729508C>T	uc003thq.2	-	2	1256	c.1021G>A	c.(1021-1023)GCT>ACT	p.A341T	INHBA_uc003thr.2_Missense_Mutation_p.A341T	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	341					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						CCAGAGGGAGCAATGATCCAG	0.537										TSP Lung(11;0.080)			21	49	---	---	---	---	PASS
PCLO	27445	broad.mit.edu	37	7	82538245	82538245	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr7:82538245T>C	uc003uhx.2	-	8	13674	c.13385A>G	c.(13384-13386)AAA>AGA	p.K4462R	PCLO_uc003uhv.2_Missense_Mutation_p.K4462R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4393					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTCCGGCAGTTTTCGGTCCAG	0.423													4	14	---	---	---	---	PASS
PCOLCE	5118	broad.mit.edu	37	7	100204242	100204242	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr7:100204242C>A	uc003uvo.2	+	6	1127	c.929C>A	c.(928-930)CCT>CAT	p.P310H	uc011kjy.1_5'Flank|PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	310					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAGGAATCTCCTTCAGCCCCT	0.512													4	41	---	---	---	---	PASS
AKR1D1	6718	broad.mit.edu	37	7	137792169	137792169	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr7:137792169T>A	uc003vtz.2	+	7	767	c.698T>A	c.(697-699)GTT>GAT	p.V233D	AKR1D1_uc011kqe.1_Missense_Mutation_p.V233D|AKR1D1_uc011kqf.1_Missense_Mutation_p.V192D|AKR1D1_uc010lmy.1_RNA	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	233					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			skin(1)	1						AGGGTGAATGTTTCTTCTCCA	0.378													13	19	---	---	---	---	PASS
ADCK2	90956	broad.mit.edu	37	7	140373931	140373931	+	Silent	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr7:140373931C>A	uc003vvy.1	+	1	979	c.801C>A	c.(799-801)CTC>CTA	p.L267L	ADCK2_uc003vvz.2_Silent_p.L267L	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	267	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity				0	Melanoma(164;0.00956)					CAGAAAATCTCGCAGACCAGT	0.577													4	89	---	---	---	---	PASS
DLGAP2	9228	broad.mit.edu	37	8	1497207	1497207	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:1497207C>A	uc003wpl.2	+	2	445	c.348C>A	c.(346-348)TTC>TTA	p.F116L	DLGAP2_uc003wpm.2_Missense_Mutation_p.F116L	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	195					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGGACCAGTTCGAGAAGCAGC	0.697													5	3	---	---	---	---	PASS
TNFRSF10B	8795	broad.mit.edu	37	8	22887122	22887122	+	Splice_Site	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:22887122C>A	uc003xcu.2	-	4	769	c.476_splice	c.e4+1	p.G159_splice	TNFRSF10B_uc003xcs.1_5'Flank|TNFRSF10B_uc003xct.2_Splice_Site_p.G159_splice|TNFRSF10B_uc011kzq.1_Splice_Site_p.G8_splice|TNFRSF10B_uc003xcv.2_Splice_Site_p.G57_splice	NM_003842	NP_003833	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily,						activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TCCTGTCTCACCCTGTGCGGC	0.592													10	16	---	---	---	---	PASS
KIF13B	23303	broad.mit.edu	37	8	28988133	28988133	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:28988133G>T	uc003xhh.3	-	24	3051	c.2992C>A	c.(2992-2994)CAG>AAG	p.Q998K	uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	998					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTCTCATTCTGTTCCAAGATT	0.403													10	25	---	---	---	---	PASS
MYST3	7994	broad.mit.edu	37	8	41845059	41845059	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:41845059A>G	uc010lxb.2	-	4	1167	c.623T>C	c.(622-624)ATC>ACC	p.I208T	MYST3_uc010lxc.2_Missense_Mutation_p.I208T|MYST3_uc003xon.3_Missense_Mutation_p.I208T|MYST3_uc010lxd.2_Missense_Mutation_p.I208T	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	208	PHD-type 1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GAAACTACAGATGGGGATTGG	0.383													6	179	---	---	---	---	PASS
ZFHX4	79776	broad.mit.edu	37	8	77763156	77763156	+	Silent	SNP	T	G	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:77763156T>G	uc003yav.2	+	10	4251	c.3864T>G	c.(3862-3864)GGT>GGG	p.G1288G	ZFHX4_uc003yau.1_Silent_p.G1333G|ZFHX4_uc003yaw.1_Silent_p.G1288G	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1288						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCATGGCAGGTCTCGAGGATT	0.368										HNSCC(33;0.089)			8	18	---	---	---	---	PASS
LRRC6	23639	broad.mit.edu	37	8	133623603	133623603	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:133623603C>A	uc003ytk.2	-	9	1055	c.981G>T	c.(979-981)ATG>ATT	p.M327I	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	327	CS.					cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AAGAGGTATCCATATACCTTC	0.299													3	11	---	---	---	---	PASS
ZC3H3	23144	broad.mit.edu	37	8	144621138	144621138	+	Silent	SNP	A	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr8:144621138A>C	uc003yyd.2	-	2	428	c.399T>G	c.(397-399)TCT>TCG	p.S133S		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	133					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGGCAGAGCCAGACTTTGATG	0.602													6	76	---	---	---	---	PASS
C9orf128	392307	broad.mit.edu	37	9	35826091	35826091	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr9:35826091T>C	uc010mlc.2	-	2	353	c.68A>G	c.(67-69)AAG>AGG	p.K23R	C9orf128_uc003zyj.2_RNA|C9orf128_uc011lpg.1_Missense_Mutation_p.K23R	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	hypothetical protein LOC392307	23											0	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGGGGTCCTTTGAAGGGGG	0.502											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	47	---	---	---	---	PASS
FAM171A1	221061	broad.mit.edu	37	10	15255479	15255479	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr10:15255479G>A	uc001iob.2	-	8	2115	c.2108C>T	c.(2107-2109)CCG>CTG	p.P703L		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	703	Cytoplasmic (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						CCGGGGGTGCGGAAGCGGCTT	0.567													31	37	---	---	---	---	PASS
CDH23	64072	broad.mit.edu	37	10	73491744	73491744	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr10:73491744G>A	uc001jrx.3	+	31	4093	c.3716G>A	c.(3715-3717)GGG>GAG	p.G1239E	CDH23_uc001jrz.2_Missense_Mutation_p.G855E|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.G47E	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1239	Cadherin 12.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCTCCTACAGGGGATGGTGGC	0.592													12	31	---	---	---	---	PASS
JAKMIP3	282973	broad.mit.edu	37	10	133967422	133967422	+	Silent	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr10:133967422G>T	uc001lkx.3	+	18	2142	c.2142G>T	c.(2140-2142)CTG>CTT	p.L714L	JAKMIP3_uc009yba.1_Silent_p.L151L	NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TTCAGGAGCTGTTCAGTAAGC	0.612													4	89	---	---	---	---	PASS
STK32C	282974	broad.mit.edu	37	10	134040467	134040467	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr10:134040467G>A	uc001lle.1	-	4	616	c.476C>T	c.(475-477)TCC>TTC	p.S159F	STK32C_uc001lld.1_Missense_Mutation_p.S42F|STK32C_uc010quu.1_Missense_Mutation_p.S172F|STK32C_uc009ybc.1_Missense_Mutation_p.S42F|STK32C_uc009ybd.1_Missense_Mutation_p.S42F|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_RNA	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	159	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|breast(1)	5		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GTCCTGGAAGGAGTACCTGTG	0.627													11	28	---	---	---	---	PASS
OR4P4	81300	broad.mit.edu	37	11	55406376	55406376	+	Silent	SNP	T	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr11:55406376T>C	uc010rij.1	+	1	543	c.543T>C	c.(541-543)CCT>CCC	p.P181P		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						ATGTGTATCCTTTGCTGAAAT	0.388													9	2	---	---	---	---	PASS
OR4D11	219986	broad.mit.edu	37	11	59271853	59271853	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr11:59271853A>C	uc001noa.1	+	1	805	c.805A>C	c.(805-807)AAG>CAG	p.K269Q		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CCCCACAGAAAAGGCCATCTC	0.527													64	88	---	---	---	---	PASS
INTS5	80789	broad.mit.edu	37	11	62414975	62414975	+	Silent	SNP	C	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr11:62414975C>T	uc001nud.2	-	2	2630	c.2577G>A	c.(2575-2577)GAG>GAA	p.E859E	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	859	Helical; (Potential).				snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						GCTTTAACAGCTCAAAGAGCA	0.677													14	24	---	---	---	---	PASS
KLC2	64837	broad.mit.edu	37	11	66030426	66030426	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr11:66030426C>T	uc010rov.1	+	5	914	c.671C>T	c.(670-672)GCA>GTA	p.A224V	KLC2_uc010row.1_Missense_Mutation_p.A224V|KLC2_uc009yra.2_Missense_Mutation_p.A224V|KLC2_uc001ohb.2_Missense_Mutation_p.A224V|KLC2_uc010rox.1_Missense_Mutation_p.A147V|KLC2_uc001ohc.2_Missense_Mutation_p.A224V|KLC2_uc001ohd.2_Missense_Mutation_p.A147V|KLC2_uc001ohe.1_Missense_Mutation_p.A85V	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	224	TPR 1.				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0						TGCAAGCAGGCACTCGAAGAC	0.622													22	55	---	---	---	---	PASS
FOLR3	2352	broad.mit.edu	37	11	71850518	71850518	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr11:71850518G>A	uc001ory.1	+	4	661	c.611G>A	c.(610-612)TGG>TAG	p.W204*	FOLR3_uc001orx.1_Nonsense_Mutation_p.W162*			P41439	FOLR3_HUMAN	SubName: Full=FOLR3 protein; Flags: Fragment;	160					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity				0					Folic Acid(DB00158)	GGCTGGAATTGGACCTCAGGT	0.572													10	19	---	---	---	---	PASS
GLB1L2	89944	broad.mit.edu	37	11	134244883	134244883	+	Silent	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr11:134244883G>A	uc001qhp.2	+	19	2030	c.1842G>A	c.(1840-1842)GAG>GAA	p.E614E	GLB1L2_uc009zdg.1_RNA	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor	614					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TTTTTGAGGAGACGATGGCGG	0.627													4	18	---	---	---	---	PASS
GALNT8	26290	broad.mit.edu	37	12	4854615	4854615	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr12:4854615G>A	uc001qne.1	+	5	973	c.881G>A	c.(880-882)CGG>CAG	p.R294Q		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	294	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4						ATCTTGGCTCGGATTCAGGAG	0.478													13	18	---	---	---	---	PASS
CCDC38	120935	broad.mit.edu	37	12	96292183	96292183	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr12:96292183C>G	uc001tek.1	-	7	828	c.594G>C	c.(592-594)ATG>ATC	p.M198I		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	198	Potential.									skin(1)	1						CTTGTACCTCCATGCTTGCTT	0.418													24	59	---	---	---	---	PASS
ATXN2	6311	broad.mit.edu	37	12	111891561	111891561	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr12:111891561T>C	uc001tsj.2	-	24	3995	c.3833A>G	c.(3832-3834)CAG>CGG	p.Q1278R	ATXN2_uc001tsh.2_Missense_Mutation_p.Q1038R|ATXN2_uc001tsi.2_Missense_Mutation_p.Q971R|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Intron|ATXN2_uc001tsl.1_3'UTR	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1278					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						GAGGGCGGCCTGGGGACCGCC	0.567													10	22	---	---	---	---	PASS
HNF1A	6927	broad.mit.edu	37	12	121416852	121416852	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr12:121416852C>A	uc001tzg.2	+	1	304	c.281C>A	c.(280-282)CCT>CAT	p.P94H	HNF1A_uc001tze.1_Missense_Mutation_p.P94H|HNF1A_uc001tzf.2_Missense_Mutation_p.P94H|HNF1A_uc010szn.1_Missense_Mutation_p.P94H	NM_000545	NP_000536	P20823	HNF1A_HUMAN	hepatic nuclear factor-1-alpha	94					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AACCTCAGCCCTGAGGAGGCG	0.667									Hepatic_Adenoma_Familial_Clustering_of				7	7	---	---	---	---	PASS
TUBA3C	7278	broad.mit.edu	37	13	19753543	19753543	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr13:19753543T>G	uc009zzj.2	-	2	213	c.164A>C	c.(163-165)GAG>GCG	p.E55A		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	55					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AGCTCCAGTCTCACTGAAGAA	0.552													10	110	---	---	---	---	PASS
TUBA3C	7278	broad.mit.edu	37	13	19753544	19753544	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr13:19753544C>A	uc009zzj.2	-	2	212	c.163G>T	c.(163-165)GAG>TAG	p.E55*		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	55					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCTCCAGTCTCACTGAAGAAC	0.552													11	110	---	---	---	---	PASS
ADAM21	8747	broad.mit.edu	37	14	70925106	70925106	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr14:70925106T>C	uc001xmd.2	+	1	890	c.890T>C	c.(889-891)ATG>ACG	p.M297T		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	297	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCTGCACATATGTTCATAAAA	0.383													24	38	---	---	---	---	PASS
PLD4	122618	broad.mit.edu	37	14	105396392	105396392	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr14:105396392C>G	uc001ypu.1	+	6	808	c.667C>G	c.(667-669)CGG>GGG	p.R223G	PLD4_uc010tyl.1_Missense_Mutation_p.R230G	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	223	PLD phosphodiesterase 1.				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|skin(1)	2		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	TGTGGATGGACGGCACATATA	0.602													22	50	---	---	---	---	PASS
BRF1	2972	broad.mit.edu	37	14	105692499	105692499	+	Splice_Site	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr14:105692499C>A	uc001yqp.2	-	10	1319	c.956_splice	c.e10-1	p.G319_splice	BRF1_uc010tyo.1_Splice_Site_p.G204_splice|BRF1_uc010typ.1_Splice_Site_p.G204_splice|BRF1_uc001yql.2_Splice_Site_p.G115_splice|BRF1_uc001yqo.2_Splice_Site_p.G81_splice|BRF1_uc010axg.1_Splice_Site_p.G292_splice|BRF1_uc001yqn.2_Splice_Site|BRF1_uc010axh.1_Splice_Site	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1						positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GATATTTCACCTGAAGTCATA	0.438													5	94	---	---	---	---	PASS
UBE2Q2	92912	broad.mit.edu	37	15	76152255	76152255	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr15:76152255T>C	uc002bbg.2	+	3	705	c.319T>C	c.(319-321)TGC>CGC	p.C107R	UBE2Q2_uc002bbh.2_Intron|UBE2Q2_uc010umn.1_Missense_Mutation_p.C91R|UBE2Q2_uc002bbi.2_5'UTR	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q 2 isoform 1	107					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			ovary(2)	2						ATGTGAACTCTGCAGTTTATA	0.378													7	13	---	---	---	---	PASS
CHD2	1106	broad.mit.edu	37	15	93536215	93536215	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr15:93536215A>T	uc002bsp.2	+	28	4157	c.3582A>T	c.(3580-3582)GAA>GAT	p.E1194D	CHD2_uc002bso.1_Missense_Mutation_p.E1194D	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1194					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGCTGAAAGAAAATGCCAGCG	0.502													17	26	---	---	---	---	PASS
CREBBP	1387	broad.mit.edu	37	16	3808000	3808000	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr16:3808000C>T	uc002cvv.2	-	18	3623	c.3419G>A	c.(3418-3420)CGG>CAG	p.R1140Q	CREBBP_uc002cvw.2_Missense_Mutation_p.R1102Q	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1140	Bromo.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTCCAGCTTCCGCTTGATGGT	0.463			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				23	27	---	---	---	---	PASS
HYDIN	54768	broad.mit.edu	37	16	70896017	70896017	+	Missense_Mutation	SNP	A	G	G	rs57797337		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr16:70896017A>G	uc002ezr.2	-	69	11836	c.11708T>C	c.(11707-11709)ATT>ACT	p.I3903T	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3904										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				GAACTTCTGAATCTTCCCCAC	0.547													6	16	---	---	---	---	PASS
LRRC50	123872	broad.mit.edu	37	16	84193349	84193349	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr16:84193349C>T	uc002fhl.3	+	6	992	c.811C>T	c.(811-813)CGA>TGA	p.R271*	LRRC50_uc010chi.1_RNA|LRRC50_uc010vnw.1_Nonsense_Mutation_p.R19*	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	271	LRRCT.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						AGTCACTGTACGACTAAAGCA	0.388									Kartagener_syndrome				24	41	---	---	---	---	PASS
C17orf97	400566	broad.mit.edu	37	17	263352	263352	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:263352G>A	uc002frh.2	+	3	764	c.748G>A	c.(748-750)GAG>AAG	p.E250K	C17orf97_uc010vpz.1_RNA	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	hypothetical protein LOC400566	270	7.|20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									ovary(1)	1						CCCCGACCCCGAGGCCCTCAA	0.726													4	1	---	---	---	---	PASS
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	A	A	rs121912655		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:7577556C>A	uc002gim.2	-	7	919	c.725G>T	c.(724-726)TGC>TTC	p.C242F	TP53_uc002gig.1_Missense_Mutation_p.C242F|TP53_uc002gih.2_Missense_Mutation_p.C242F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110F|TP53_uc010cng.1_Missense_Mutation_p.C110F|TP53_uc002gii.1_Missense_Mutation_p.C110F|TP53_uc010cnh.1_Missense_Mutation_p.C242F|TP53_uc010cni.1_Missense_Mutation_p.C242F|TP53_uc002gij.2_Missense_Mutation_p.C242F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149F|TP53_uc002gio.2_Missense_Mutation_p.C110F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	242	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).	Zinc.	C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; 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.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(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)		GCCGCCCATGCAGGAACTGTT	0.577		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)			59	21	---	---	---	---	PASS
MYH8	4626	broad.mit.edu	37	17	10307778	10307778	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:10307778C>T	uc002gmm.2	-	22	2652	c.2557G>A	c.(2557-2559)GCC>ACC	p.A853T	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	853	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TTCATGGTGGCCATCTCTTTC	0.458									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				12	30	---	---	---	---	PASS
KCNJ12	3768	broad.mit.edu	37	17	21318712	21318712	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:21318712C>A	uc002gyv.1	+	3	763	c.58C>A	c.(58-60)CTG>ATG	p.L20M		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	20	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	GGAGGACGGGCTGCACCTGGT	0.687										Prostate(3;0.18)			5	35	---	---	---	---	PASS
NEK8	284086	broad.mit.edu	37	17	27062332	27062332	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:27062332G>A	uc002hcp.2	+	4	561	c.561G>A	c.(559-561)TGG>TGA	p.W187*		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	187	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					GTGACATCTGGGCCCTGGGCT	0.577													9	24	---	---	---	---	PASS
MYO1D	4642	broad.mit.edu	37	17	30965835	30965835	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:30965835C>A	uc002hho.1	-	20	2626	c.2614G>T	c.(2614-2616)GTG>TTG	p.V872L	MYO1D_uc002hhp.1_Missense_Mutation_p.V872L	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	872						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CTGTCTTCCACCTTACTAAAT	0.358													5	11	---	---	---	---	PASS
SLFN11	91607	broad.mit.edu	37	17	33690215	33690215	+	Silent	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:33690215G>A	uc010ctp.2	-	4	1054	c.612C>T	c.(610-612)ATC>ATT	p.I204I	SLFN11_uc010ctq.2_Silent_p.I204I|SLFN11_uc002hjh.3_Silent_p.I204I|SLFN11_uc002hjg.3_Silent_p.I204I|SLFN11_uc010ctr.2_Silent_p.I204I	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	204						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAAAGGCAGGATTTCACCAT	0.413													18	44	---	---	---	---	PASS
AOC2	314	broad.mit.edu	37	17	40997603	40997603	+	Silent	SNP	A	G	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:40997603A>G	uc002ibu.2	+	1	995	c.960A>G	c.(958-960)CAA>CAG	p.Q320Q	AOC2_uc002ibt.2_Silent_p.Q320Q	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	320					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACAGTGTGCAAGGAAACCTGG	0.547													45	58	---	---	---	---	PASS
GJC1	10052	broad.mit.edu	37	17	42882110	42882110	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:42882110T>C	uc002ihj.2	-	2	1587	c.1076A>G	c.(1075-1077)CAA>CGA	p.Q359R	GJC1_uc002ihk.2_Missense_Mutation_p.Q359R|GJC1_uc002ihl.2_Missense_Mutation_p.Q359R|GJC1_uc010czx.2_Missense_Mutation_p.Q359R|GJC1_uc010czy.1_Missense_Mutation_p.Q220R	NM_005497	NP_005488	P36383	CXG1_HUMAN	connexin 45	359	Cytoplasmic (Potential).				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane					0		Prostate(33;0.0959)				AGGGTTGTTTTGGTGACTGTA	0.572													41	45	---	---	---	---	PASS
STH	246744	broad.mit.edu	37	17	44076726	44076726	+	Silent	SNP	C	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:44076726C>T	uc002ijy.2	+	1	111	c.81C>T	c.(79-81)TGC>TGT	p.C27C	MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	saitohin	27						cytoplasm|nucleus					0						tcattgaatgCGGGGTTAATT	0.254													7	74	---	---	---	---	PASS
SFRS1	6426	broad.mit.edu	37	17	56083253	56083253	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr17:56083253C>A	uc002ivi.2	-	3	670	c.461G>T	c.(460-462)CGA>CTA	p.R154L	SFRS1_uc002ivj.2_Missense_Mutation_p.R154L	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	splicing factor, arginine/serine-rich 1 isoform	154	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding				0		Colorectal(1115;0.0691)		LUAD - Lung adenocarcinoma(1115;0.247)		AGTGCCATCTCGGTAAACATC	0.413													4	65	---	---	---	---	PASS
IMPACT	55364	broad.mit.edu	37	18	22007976	22007976	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr18:22007976G>C	uc002kvh.3	+	2	242	c.130G>C	c.(130-132)GAT>CAT	p.D44H	IMPACT_uc002kvg.3_Missense_Mutation_p.D26H	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Impact homolog	44	RWD.										0	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AATTAGCGACGATATAGATGA	0.408													38	86	---	---	---	---	PASS
MED16	10025	broad.mit.edu	37	19	879947	879947	+	Missense_Mutation	SNP	C	T	T	rs139117438	by1000genomes	TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:879947C>T	uc002lqd.1	-	8	1494	c.1343G>A	c.(1342-1344)AGC>AAC	p.S448N	MED16_uc010drw.1_Missense_Mutation_p.S273N|MED16_uc002lqe.2_Missense_Mutation_p.S437N|MED16_uc002lqf.2_Missense_Mutation_p.S437N|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.S437N|MED16_uc010xfx.1_Missense_Mutation_p.S293N|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	448					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCCCGTGGCTGTCAATCCC	0.667													3	26	---	---	---	---	PASS
UHRF1	29128	broad.mit.edu	37	19	4929420	4929420	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:4929420G>T	uc002mbo.2	+	3	508	c.340G>T	c.(340-342)GCC>TCC	p.A114S	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.A127S	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	114					cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CGGTGAGGCGGCCGCCGAGAC	0.652													26	20	---	---	---	---	PASS
DNMT1	1786	broad.mit.edu	37	19	10270421	10270421	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:10270421G>C	uc002mng.2	-	16	1325	c.1145C>G	c.(1144-1146)ACA>AGA	p.T382R	DNMT1_uc010xlc.1_Missense_Mutation_p.T398R|DNMT1_uc002mnh.2_Missense_Mutation_p.T277R|DNMT1_uc010xld.1_Missense_Mutation_p.T382R	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	382	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTTCTCATTTGTCAGCATCTG	0.547													6	134	---	---	---	---	PASS
HOOK2	29911	broad.mit.edu	37	19	12874185	12874185	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:12874185G>T	uc002muy.2	-	23	2242	c.2071C>A	c.(2071-2073)CTG>ATG	p.L691M	HOOK2_uc010xmq.1_Missense_Mutation_p.L96M|HOOK2_uc002muz.2_Missense_Mutation_p.L689M	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	hook homolog 2 isoform 1	691	Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			ovary(1)|breast(1)|skin(1)	3						TGCTGTGCCAGGAATGACTGG	0.637													5	51	---	---	---	---	PASS
PDE4C	5143	broad.mit.edu	37	19	18333041	18333041	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:18333041G>A	uc010xqc.1	-	2	815	c.335C>T	c.(334-336)CCG>CTG	p.P112L	PDE4C_uc002nik.3_Missense_Mutation_p.P112L|PDE4C_uc002nil.3_Missense_Mutation_p.P112L|PDE4C_uc002nif.3_5'Flank|PDE4C_uc002nig.3_5'Flank|PDE4C_uc002nih.3_5'Flank|PDE4C_uc010ebk.2_Missense_Mutation_p.P6L|PDE4C_uc002nii.3_Missense_Mutation_p.P80L|PDE4C_uc010ebl.2_5'UTR|PDE4C_uc010xqd.1_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Missense_Mutation_p.P112L	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	112					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)	CTGGCTGTGCGGGACTGGAGC	0.627													12	27	---	---	---	---	PASS
RYR1	6261	broad.mit.edu	37	19	38989785	38989785	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:38989785G>T	uc002oit.2	+	43	7059	c.6929G>T	c.(6928-6930)TGC>TTC	p.C2310F	RYR1_uc002oiu.2_Missense_Mutation_p.C2310F|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2310	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCCAGAGCTGCCCCATGCTT	0.622													19	42	---	---	---	---	PASS
BBC3	27113	broad.mit.edu	37	19	47725088	47725088	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:47725088G>A	uc002pgf.3	-	4	834	c.553C>T	c.(553-555)CAC>TAC	p.H185Y	BBC3_uc010xyl.1_Missense_Mutation_p.P219L|BBC3_uc010eky.2_Missense_Mutation_p.H123Y|BBC3_uc010ekz.2_Missense_Mutation_p.P59L	NM_014417	NP_055232	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3 isoform 4	185					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding|protein binding				0		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		GGGGCTCTGTGGCCCCTGGGT	0.667													7	15	---	---	---	---	PASS
LILRB4	11006	broad.mit.edu	37	19	55179342	55179342	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:55179342C>T	uc002qgp.2	+	12	1581	c.1219C>T	c.(1219-1221)CCC>TCC	p.P407S	LILRB4_uc002qgq.2_Missense_Mutation_p.P406S|LILRB4_uc002qgr.2_Missense_Mutation_p.P449S|LILRB4_uc010ert.2_Missense_Mutation_p.P448S|LILRB4_uc010eru.2_Missense_Mutation_p.P437S	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	407	Cytoplasmic (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		ATCTGAAGCCCCCCAGGATGT	0.647													4	72	---	---	---	---	PASS
NLRP7	199713	broad.mit.edu	37	19	55447727	55447727	+	Silent	SNP	C	T	T	rs141917868		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:55447727C>T	uc002qih.3	-	6	2278	c.2202G>A	c.(2200-2202)ACG>ACA	p.T734T	NLRP7_uc002qig.3_Silent_p.T706T|NLRP7_uc002qii.3_Silent_p.T734T|NLRP7_uc010esk.2_Silent_p.T734T|NLRP7_uc010esl.2_Silent_p.T762T	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	734							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		GGGTCAGGTGCGTGAGGGTCT	0.517													16	32	---	---	---	---	PASS
C19orf51	352909	broad.mit.edu	37	19	55670653	55670653	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:55670653G>A	uc002qji.1	-	12	1437	c.1403C>T	c.(1402-1404)GCT>GTT	p.A468V	TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.A283V|C19orf51_uc002qjj.1_Missense_Mutation_p.A515V|C19orf51_uc002qjk.1_Missense_Mutation_p.A414V|C19orf51_uc002qjl.1_Missense_Mutation_p.A535V			Q8N9W5	CS051_HUMAN	RecName: Full=UPF0470 protein C19orf51;	468											0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGTTCCACAGCTGGGACAGT	0.632													5	50	---	---	---	---	PASS
C20orf186	149954	broad.mit.edu	37	20	31671225	31671225	+	Silent	SNP	A	G	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr20:31671225A>G	uc010zue.1	+	3	237	c.222A>G	c.(220-222)GTA>GTG	p.V74V		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	74						cytoplasm|extracellular region	lipid binding				0						CCCCCCCAGTATATACCAACG	0.488													57	110	---	---	---	---	PASS
TOMM34	10953	broad.mit.edu	37	20	43585127	43585127	+	Splice_Site	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr20:43585127C>A	uc002xmy.2	-	2	268	c.128_splice	c.e2-1	p.G43_splice	PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_Splice_Site	NM_006809	NP_006800	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34						protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding				0		Myeloproliferative disorder(115;0.0122)				TCTGAAGAACCTGCCCAGATA	0.468													6	109	---	---	---	---	PASS
PREX1	57580	broad.mit.edu	37	20	47444188	47444188	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr20:47444188G>T	uc002xtw.1	-	1	233	c.210C>A	c.(208-210)TTC>TTA	p.F70L		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	70	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCGACTGCAAGAAGCGCAAGG	0.632													8	6	---	---	---	---	PASS
KRTAP12-2	353323	broad.mit.edu	37	21	46086489	46086489	+	Silent	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr21:46086489G>A	uc002zfu.2	-	1	356	c.315C>T	c.(313-315)TGC>TGT	p.C105C	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	keratin associated protein 12-2	105	23 X 5 AA approximate repeats.|18.					keratin filament					0						TCACAGGCACGCACAGGGAGG	0.652													17	42	---	---	---	---	PASS
SLC5A1	6523	broad.mit.edu	37	22	32506092	32506092	+	Silent	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr22:32506092G>A	uc003amc.2	+	15	2119	c.1887G>A	c.(1885-1887)AAG>AAA	p.K629K	SLC5A1_uc011alz.1_Silent_p.K502K	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	629	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						AAGCCATGAAGATGAAGATGA	0.483													66	35	---	---	---	---	PASS
CACNA1I	8911	broad.mit.edu	37	22	40060851	40060851	+	Silent	SNP	C	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr22:40060851C>T	uc003ayc.2	+	21	3774	c.3774C>T	c.(3772-3774)TCC>TCT	p.S1258S	CACNA1I_uc003ayd.2_Silent_p.S1223S|CACNA1I_uc003aye.2_Silent_p.S1173S|CACNA1I_uc003ayf.2_Silent_p.S1138S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1258	Helical; Name=S3 of repeat III; (Potential).|III.				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCGTGGTGTCCCTGGCCTCAG	0.652													23	35	---	---	---	---	PASS
MKL1	57591	broad.mit.edu	37	22	40807497	40807497	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr22:40807497G>T	uc003ayv.1	-	12	2900	c.2693C>A	c.(2692-2694)CCC>CAC	p.P898H	MKL1_uc003ayw.1_Missense_Mutation_p.P898H|MKL1_uc010gye.1_3'UTR|MKL1_uc010gyf.1_Missense_Mutation_p.P848H	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	898					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCTCAGCACGGGACCACCTGA	0.612			T	RBM15	acute megakaryocytic leukemia								5	43	---	---	---	---	PASS
PRPS2	5634	broad.mit.edu	37	X	12817407	12817407	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:12817407G>T	uc004cvb.2	+	2	328	c.204G>T	c.(202-204)ATG>ATT	p.M68I	PRPS2_uc004cva.2_Missense_Mutation_p.M68I|PRPS2_uc010nec.2_Missense_Mutation_p.M1I	NM_002765	NP_002756	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	68					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity				0						ACAACCTGATGGAACTCCTCA	0.493													5	73	---	---	---	---	PASS
TLR7	51284	broad.mit.edu	37	X	12904135	12904135	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:12904135G>T	uc004cvc.2	+	3	647	c.508G>T	c.(508-510)GAA>TAA	p.E170*		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	170	LRR 5.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	GAATCTAACAGAACTGGCCAA	0.418													5	35	---	---	---	---	PASS
TLR8	51311	broad.mit.edu	37	X	12938148	12938148	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:12938148G>T	uc004cve.2	+	2	1057	c.989G>T	c.(988-990)GGG>GTG	p.G330V	TLR8_uc004cvd.2_Missense_Mutation_p.G348V	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	330	LRR 8.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						ATAGCCTCTGGGGCATTTTTA	0.388													19	20	---	---	---	---	PASS
BCOR	54880	broad.mit.edu	37	X	39932857	39932857	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:39932857G>T	uc004den.3	-	4	2034	c.1742C>A	c.(1741-1743)ACC>AAC	p.T581N	BCOR_uc004dep.3_Missense_Mutation_p.T581N|BCOR_uc004deo.3_Missense_Mutation_p.T581N|BCOR_uc004dem.3_Missense_Mutation_p.T581N|BCOR_uc004deq.3_Missense_Mutation_p.T581N	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	581					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						GCTGGTTTTGGTGCCATCTGC	0.617													7	58	---	---	---	---	PASS
FAM120C	54954	broad.mit.edu	37	X	54099692	54099692	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:54099692A>T	uc004dsz.3	-	16	3148	c.3065T>A	c.(3064-3066)CTG>CAG	p.L1022Q	FAM120C_uc011moh.1_Missense_Mutation_p.W885R	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	1022										ovary(1)|central_nervous_system(1)	2						ATGAAGCTCCAGGGATTTAGA	0.463													8	25	---	---	---	---	PASS
CDX4	1046	broad.mit.edu	37	X	72673420	72673420	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:72673420G>T	uc011mqk.1	+	2	570	c.570G>T	c.(568-570)AAG>AAT	p.K190N		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	190	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(35;0.156)					AGCTGGAAAAGGAATTCCATT	0.403													3	9	---	---	---	---	PASS
KIAA2022	340533	broad.mit.edu	37	X	73963358	73963358	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:73963358C>A	uc004eby.2	-	3	1651	c.1034G>T	c.(1033-1035)TGC>TTC	p.C345F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	345					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						TCGCTTGGGGCAGGTAGTAAA	0.463													19	20	---	---	---	---	PASS
ARL13A	392509	broad.mit.edu	37	X	100242388	100242388	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:100242388T>A	uc004ego.2	+	6	612	c.496T>A	c.(496-498)TCA>ACA	p.S166T	ARL13A_uc011mrf.1_Missense_Mutation_p.S166T|ARL13A_uc010nng.2_Missense_Mutation_p.S166T	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13 isoform a	166							GTP binding			ovary(1)	1						GGAGCCATGTTCAGCCATCAG	0.512													5	23	---	---	---	---	PASS
MIR890	100126303	broad.mit.edu	37	X	145075861	145075861	+	RNA	SNP	G	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:145075861G>A	hsa-mir-890|MI0005533	-			c.9G>A																				0						TTCCAAGTAGGGCACTTCCCA	0.483													7	99	---	---	---	---	PASS
C1orf170	84808	broad.mit.edu	37	1	911962	911964	+	In_Frame_Del	DEL	TTC	-	-			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr1:911962_911964delTTC	uc001ach.2	-	4	1884_1886	c.1848_1850delGAA	c.(1846-1851)CAGAAT>CAT	p.616_617QN>H	C1orf170_uc001acg.2_RNA	NR_027693				RecName: Full=Uncharacterized protein C1orf170;												0						GCACATGTCATTCTGGCTGAAGG	0.611													2	4	---	---	---	---	
FOXP1	27086	broad.mit.edu	37	3	71027024	71027030	+	Frame_Shift_Del	DEL	TGGGTCC	-	-			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr3:71027024_71027030delTGGGTCC	uc003dol.2	-	11	1620_1626	c.1297_1303delGGACCCA	c.(1297-1305)GGACCCATCfs	p.G433fs	FOXP1_uc003dom.2_Frame_Shift_Del_p.G357fs|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Frame_Shift_Del_p.G433fs|FOXP1_uc003dop.2_Frame_Shift_Del_p.G433fs|FOXP1_uc003doq.1_Frame_Shift_Del_p.G432fs|FOXP1_uc003doi.2_Frame_Shift_Del_p.G333fs|FOXP1_uc003doj.2_Frame_Shift_Del_p.G333fs|FOXP1_uc003dok.2_Frame_Shift_Del_p.G246fs|FOXP1_uc003dor.1_Frame_Shift_Del_p.G211fs	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	433_435					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CGCCTGCGGATGGGTCCCACCGTGTGC	0.546			T	PAX5	ALL								25	12	---	---	---	---	
Unknown	0	broad.mit.edu	37	4	3591606	3591607	+	RNA	INS	-	ACAC	ACAC	rs139255858		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr4:3591606_3591607insACAC	uc003ghj.1	+	3		c.1377_1378insACAC			uc003ghk.1_Intron					Homo sapiens cDNA FLJ35424 fis, clone SMINT2001461.																		TACATGGAAATacacacacact	0.054													5	3	---	---	---	---	
CCDC109A	90550	broad.mit.edu	37	10	74451958	74451960	+	In_Frame_Del	DEL	GGC	-	-			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr10:74451958_74451960delGGC	uc001jtc.2	+	1	70_72	c.49_51delGGC	c.(49-51)GGCdel	p.G22del	CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_In_Frame_Del_p.G22del|CCDC109A_uc001jtd.2_5'Flank	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	coiled-coil domain containing 109A	22	Mitochondrial matrix (Potential).				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding				0	Prostate(51;0.0198)					CTCCTCTCGGggcggcggcggcg	0.616													4	2	---	---	---	---	
Unknown	0	broad.mit.edu	37	10	127394567	127394568	+	RNA	INS	-	A	A	rs71029267		TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr10:127394567_127394568insA	uc001lim.1	-	5		c.1818_1819insT			uc001lil.2_Intron					Homo sapiens cDNA FLJ37035 fis, clone BRACE2011545.																		CCTCAGGCTTCACGACCCTTCC	0.545													4	2	---	---	---	---	
AEBP2	121536	broad.mit.edu	37	12	19592829	19592840	+	In_Frame_Del	DEL	GGCGGCGGAGGC	-	-			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr12:19592829_19592840delGGCGGCGGAGGC	uc001ref.2	+	1	222_233	c.196_207delGGCGGCGGAGGC	c.(196-207)GGCGGCGGAGGCdel	p.GGGG70del	AEBP2_uc001ree.2_In_Frame_Del_p.GGGG70del|AEBP2_uc001reg.1_5'Flank	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	AE binding protein 2 isoform b	70_73	Glu-rich.|Gly-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					cagcggtgggggcggcggaggcggcggcggAG	0.387													5	5	---	---	---	---	
SNRPN	6638	broad.mit.edu	37	15	25223030	25223030	+	Frame_Shift_Del	DEL	C	-	-			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr15:25223030delC	uc001ywp.1	+	11	1416	c.526delC	c.(526-528)CCCfs	p.P176fs	SNRPN_uc001ywq.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywr.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001yws.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywt.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywv.1_Frame_Shift_Del_p.P179fs|SNRPN_uc001yww.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywx.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywz.1_RNA|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	176	|Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGCACTCCGCCCCCACCCGT	0.567									Prader-Willi_syndrome				5	10	---	---	---	---	
KLK11	11012	broad.mit.edu	37	19	51525823	51525824	+	Frame_Shift_Ins	INS	-	G	G			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chr19:51525823_51525824insG	uc002pvd.1	-	6	938_939	c.826_827insC	c.(826-828)CAGfs	p.Q276fs	KLK10_uc002puy.2_5'Flank|KLK10_uc002puz.2_5'Flank|KLK10_uc002pva.2_5'Flank|KLK11_uc002pvb.1_Frame_Shift_Ins_p.Q269fs|KLK11_uc002pve.1_Frame_Shift_Ins_p.Q133fs|KLK11_uc002pvf.1_Frame_Shift_Ins_p.Q244fs|KLK11_uc002pvc.3_Frame_Shift_Ins_p.Q244fs	NM_144947	NP_659196	Q9UBX7	KLK11_HUMAN	kallikrein 11 isoform 2 precursor	276	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CATCGTCTCCTGGATCCAGTCC	0.500													114	54	---	---	---	---	
IL1RAPL2	26280	broad.mit.edu	37	X	104478546	104478547	+	Frame_Shift_Ins	INS	-	A	A			TCGA-18-3408-01A-01D-0983-08	TCGA-18-3408-11A-01D-0983-08									Somatic	Phase_I	Capture				Illumina GAIIx	cab7a425-e081-4bae-b666-6cdf8ba4dd70	f60256d4-9359-49fc-86ff-dada8524ab7f	g.chrX:104478546_104478547insA	uc004elz.1	+	4	1157_1158	c.401_402insA	c.(400-402)GCAfs	p.A134fs		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	134	Extracellular (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						TTGACTGTTGCAGAGAATGAAT	0.396													47	87	---	---	---	---	
