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	pox	qox	isArtifactMode	oxoGCut
PRAMEF1	65121	broad.mit.edu	37	1	12854235	12854235	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:12854235C>T	uc001auj.1	+	3	562	c.459C>T	c.(457-459)ATC>ATT	p.I153I		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	153											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCATAGACATCTGCCTCAAGG	0.522		NA											71	273					0	0	0	0
NBPF1	55672	broad.mit.edu	37	1	16907926	16907926	+	Silent	SNP	T	T	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:16907926T>A	uc009vos.1	-	15	2256	c.1368A>T	c.(1366-1368)TCA>TCT	p.S456S	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Silent_p.S185S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	456	NBPF 2.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGGGGGCAGATGATTCCAGTA	0.433		NA											19	493					0	0	0	0
EXTL1	2134	broad.mit.edu	37	1	26349593	26349593	+	Silent	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:26349593A>G	uc001blf.2	+	1	1323	c.456A>G	c.(454-456)CAA>CAG	p.Q152Q		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	152	Lumenal (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTCTGCAATGGAACAGGG	0.647		NA											13	53					0	0	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876055	39876055	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:39876055G>C	uc009vvt.1	+	1	880	c.118G>C	c.(118-120)GAT>CAT	p.D40H	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	Error:Variant_position_missing_in_O94854_after_alignment											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCTATATATGATACGATGAG	0.463		NA											15	46					0	0	0	0
LRRC7	57554	broad.mit.edu	37	1	70144160	70144160	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:70144160G>C	uc001deo.1	+	2	1554	c.99G>C	c.(97-99)GAG>GAC	p.E33D				Q96NW7	LRRC7_HUMAN	SubName: Full=Leucine rich repeat containing 7; SubName: Full=cDNA FLJ54846, highly similar to Leucine-rich repeat-containing protein 7;	Error:Variant_position_missing_in_Q96NW7_after_alignment						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CTGAAGAGGAGTGTAAGTATG	0.408		NA											5	12					0	0	0	0
C1orf173	127254	broad.mit.edu	37	1	75038225	75038225	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:75038225C>A	uc001dgg.2	-	14	3388	c.3169G>T	c.(3169-3171)GCA>TCA	p.A1057S		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1057	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CGCTCTCTTGCTAAATCTAAT	0.443		NA											51	131					2.08e-19	2.89e-19	1	0
ABCA4	24	broad.mit.edu	37	1	94526180	94526180	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:94526180G>A	uc001dqh.2	-	14	2177	c.2073C>T	c.(2071-2073)GTC>GTT	p.V691V	ABCA4_uc010otn.1_Silent_p.V691V	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	691					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGCATTGGAGACACCCTGAT	0.483		NA											20	54					0	0	0	0
DRAM2	128338	broad.mit.edu	37	1	111660792	111660792	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:111660792C>T	uc001ead.3	-	9	1048	c.791G>A	c.(790-792)AGA>AAA	p.R264K	DRAM2_uc001eae.3_Missense_Mutation_p.R264K|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_Missense_Mutation_p.R134K	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	transmembrane protein 77	264					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane					0						TCAAATATCTCTGGAAAGTAG	0.368		NA											10	53					0	0	0	0
PEX19	5824	broad.mit.edu	37	1	160253344	160253344	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:160253344C>T	uc001fvs.2	-	2	183	c.156G>A	c.(154-156)AAG>AAA	p.K52K	DCAF8_uc010pjc.1_Intron|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_Intron	NM_002857	NP_002848	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19 isoform a	52	Necessary for PEX19 function on peroxisome biogenesis.|Docking to the peroxisome membrane and binding to PEX3.				peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding				0	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGCGATCTCTTCTGGGGCC	0.577		NA											21	50					0	0	0	0
UAP1	6675	broad.mit.edu	37	1	162536139	162536139	+	Splice_Site	SNP	G	G	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:162536139G>T	uc001gce.3	+	2	609	c.280_splice	c.e2+1	p.G94_splice		NM_003115	NP_003106	Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1						dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			ovary(2)|skin(2)|kidney(1)	5	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAAAGTGAAGGTACTGGGCAT	0.408		NA											12	31					2.68e-12	3.68e-12	1	0
TMCO1	54499	broad.mit.edu	37	1	165712477	165712477	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:165712477T>C	uc001gdj.3	-	6	544	c.395A>G	c.(394-396)AAT>AGT	p.N132S	TMCO1_uc001gdl.3_Missense_Mutation_p.N48S|TMCO1_uc001gdm.3_Missense_Mutation_p.N48S|TMCO1_uc001gdk.3_Missense_Mutation_p.N120S|TMCO1_uc001gdn.3_RNA	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	132						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)	1	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TCCCAGCAGATTTCGATGAGA	0.378		NA											14	43					0	0	0	0
DNM3	26052	broad.mit.edu	37	1	172011156	172011156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:172011156C>T	uc001gie.2	+	8	1176	c.1000C>T	c.(1000-1002)CAG>TAG	p.Q334*	DNM3_uc001gid.3_Nonsense_Mutation_p.Q334*|DNM3_uc009wwb.2_Nonsense_Mutation_p.Q334*|DNM3_uc001gif.2_Nonsense_Mutation_p.Q334*	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	334					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						CAGGATGGTTCAGCAATTTGC	0.368		NA											23	87					0	0	0	0
F13B	2165	broad.mit.edu	37	1	197030149	197030149	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:197030149A>T	uc001gtt.1	-	4	552	c.508T>A	c.(508-510)TTC>ATC	p.F170I		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	170	Sushi 3.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TTCACTTTGAATGTTTTCTGT	0.318		NA											13	61					0	0	0	0
ADORA1	134	broad.mit.edu	37	1	203097989	203097989	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:203097989C>T	uc001gze.1	+	3	453	c.20C>T	c.(19-21)GCT>GTT	p.A7V	ADORA1_uc001gzf.1_Missense_Mutation_p.A7V|ADORA1_uc010pqg.1_5'UTR|ADORA1_uc009xak.1_5'UTR|ADORA1_uc010pqh.1_Missense_Mutation_p.A40V	NM_000674	NP_000665	P30542	AA1R_HUMAN	adenosine A1 receptor	7	Extracellular (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCCATCTCAGCTTTCCAGGCC	0.657		NA											18	81					0	0	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984132	223984132	+	Silent	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:223984132G>C	uc010pvb.1	-	13	2401	c.2109C>G	c.(2107-2109)CTC>CTG	p.L703L	TP53BP2_uc001hod.2_Silent_p.L574L|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Silent_p.L342L	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	697					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		TAGTTGGGCTGAGTGGCCGAG	0.468		NA											45	122					0	0	0	0
KIF5B	3799	broad.mit.edu	37	10	32329357	32329357	+	Missense_Mutation	SNP	T	T	C	rs147256984		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:32329357T>C	uc001iwe.3	-	3	713	c.243A>G	c.(241-243)ATA>ATG	p.I81M		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	81	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				CATATGCAAATATTGTTCCAT	0.328		NA											13	43					0	0	0	0
POLR3A	11128	broad.mit.edu	37	10	79737376	79737376	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:79737376C>A	uc001jzn.2	-	31	4127	c.4033G>T	c.(4033-4035)GAG>TAG	p.E1345*		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1345					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGATGCACTCAGACACCCCT	0.423		NA											17	59					0.00074312	0.000945233	1	0
GRID1	2894	broad.mit.edu	37	10	87898641	87898641	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:87898641G>A	uc001kdl.1	-	4	762	c.661C>T	c.(661-663)CGG>TGG	p.R221W	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	221	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	AGCGTGTCCCGGTAGCGATTC	0.592		NA								Multiple Myeloma(13;0.14)			41	133					0	0	0	0
AGAP11	119385	broad.mit.edu	37	10	88768495	88768495	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:88768495G>A	uc001kee.2	+	12	1690	c.486G>A	c.(484-486)ATG>ATA	p.M162I	AGAP11_uc001kef.2_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase	162	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0						GTGATTATATGAAGAATATTC	0.443		NA											55	197					0	0	0	0
CHUK	1147	broad.mit.edu	37	10	101953836	101953836	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:101953836C>A	uc001kqp.2	-	18	1934	c.1879G>T	c.(1879-1881)GTG>TTG	p.V627L		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	627					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CTGAGGGCCACTTCCACCTTA	0.423		NA											13	52					0.00010058	0.00013008	1	0
ABLIM1	3983	broad.mit.edu	37	10	116251550	116251550	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:116251550C>T	uc010qsg.1	-	7	1081	c.982G>A	c.(982-984)GGC>AGC	p.G328S	ABLIM1_uc010qsh.1_Missense_Mutation_p.G268S|ABLIM1_uc010qsi.1_Missense_Mutation_p.G268S|ABLIM1_uc010qsk.1_Missense_Mutation_p.G252S|ABLIM1_uc009xyp.2_Missense_Mutation_p.G262S|ABLIM1_uc010qsf.1_Missense_Mutation_p.G12S|ABLIM1_uc009xyn.2_Missense_Mutation_p.G5S|ABLIM1_uc010qsj.1_Missense_Mutation_p.G5S|ABLIM1_uc009xyo.2_Missense_Mutation_p.G176S	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	328	LIM zinc-binding 4.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TCCACCTCACCTTGAAGATAC	0.438		NA											25	94					0	0	0	0
KCNK18	338567	broad.mit.edu	37	10	118969311	118969311	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:118969311C>G	uc010qsr.1	+	3	656	c.656C>G	c.(655-657)TCA>TGA	p.S219*		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	219	Cytoplasmic (Potential).					integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)		ACATGTCCTTCACGCCCAAGC	0.532		NA											14	51					0	0	0	0
PDZD8	118987	broad.mit.edu	37	10	119043299	119043299	+	Missense_Mutation	SNP	G	G	A	rs148717941		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:119043299G>A	uc001lde.1	-	5	3144	c.2945C>T	c.(2944-2946)ACG>ATG	p.T982M		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	982					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		ACAGACCTCCGTGTCACTGCC	0.478		NA											79	257					0	0	0	0
IRF7	3665	broad.mit.edu	37	11	613301	613301	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:613301C>T	uc001lqh.2	-	9	1512	c.1142G>A	c.(1141-1143)GGC>GAC	p.G381D	IRF7_uc009ycb.2_Missense_Mutation_p.G275D|IRF7_uc010qwf.1_Missense_Mutation_p.G380D|IRF7_uc001lqf.2_Missense_Mutation_p.G88D|IRF7_uc010qwg.1_Missense_Mutation_p.G88D|IRF7_uc001lqg.2_Missense_Mutation_p.G394D|IRF7_uc001lqi.2_Missense_Mutation_p.G352D|IRF7_uc010qwh.1_Missense_Mutation_p.G88D	NM_001572	NP_001563	Q92985	IRF7_HUMAN	interferon regulatory factor 7 isoform a	381					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGGGTCCGCCCACCTCCCA	0.672		NA											7	27					0	0	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444060	5444060	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:5444060C>T	uc010qzd.1	+	1	630	c.630C>T	c.(628-630)ATC>ATT	p.I210I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTATTATCGTGGATCCTC	0.502		NA											39	119					0	0	0	0
DNHD1	144132	broad.mit.edu	37	11	6588430	6588430	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:6588430T>G	uc001mdw.3	+	36	12255	c.11691T>G	c.(11689-11691)ATT>ATG	p.I3897M	DNHD1_uc001mea.3_Missense_Mutation_p.I166M|DNHD1_uc001meb.2_Missense_Mutation_p.I165M|DNHD1_uc001mec.2_Missense_Mutation_p.I165M|DNHD1_uc010rao.1_Missense_Mutation_p.I155M|DNHD1_uc009yfg.2_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	3897					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACGTGAGATTAATCACGGGG	0.572		NA											35	89					0	0	0	0
TMEM41B	440026	broad.mit.edu	37	11	9321190	9321190	+	Silent	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:9321190A>G	uc001mhm.2	-	2	488	c.180T>C	c.(178-180)ATT>ATC	p.I60I	TMEM41B_uc001mhn.1_Silent_p.I60I	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B isoform 1	60	Helical; (Potential).					integral to membrane					0				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		CAGATAAGAAAATGGACACCA	0.299		NA											11	42					0	0	0	0
CD82	3732	broad.mit.edu	37	11	44640601	44640601	+	Silent	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:44640601C>A	uc001myc.2	+	10	977	c.729C>A	c.(727-729)CTC>CTA	p.L243L	CD82_uc001myd.2_Silent_p.L218L	NM_002231	NP_002222	P27701	CD82_HUMAN	CD82 antigen isoform 1	243	Helical; (Potential).					integral to plasma membrane	protein binding			ovary(1)	1						CCCCACAGCTCCTGGGGATGG	0.557		NA											14	57					6.94e-10	9.35e-10	1	0
ATG2A	23130	broad.mit.edu	37	11	64679357	64679357	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:64679357G>A	uc001obx.2	-	9	1300	c.1185C>T	c.(1183-1185)AGC>AGT	p.S395S		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	395							protein binding			ovary(1)|central_nervous_system(1)	2						AGGCCATGTCGCTGCGCACAG	0.637		NA											5	24					0	0	0	0
PCNXL3	399909	broad.mit.edu	37	11	65397860	65397860	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:65397860G>A	uc001oey.2	+	27	4255	c.4255G>A	c.(4255-4257)GAG>AAG	p.E1419K	PCNXL3_uc001oez.2_Missense_Mutation_p.E306K	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1419						integral to membrane					0						GGCTATCACCGAGGGTGTGGA	0.637		NA											24	67					0	0	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925548	67925548	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:67925548G>A	uc001onm.1	-	11	2521	c.2265C>T	c.(2263-2265)AAC>AAT	p.N755N	SUV420H1_uc009yse.1_Silent_p.N341N|SUV420H1_uc001onn.1_Silent_p.N583N|SUV420H1_uc009ysf.2_Silent_p.N515N	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	755					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CATAGAGATTGTTATCGTTGT	0.368		NA											58	152					0	0	0	0
CWF19L2	143884	broad.mit.edu	37	11	107197637	107197637	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:107197637C>T	uc010rvp.1	-	18	2714	c.2684G>A	c.(2683-2685)TGA>TAA	p.*895*	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	895							catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AGGTACACCTCAATAGTTTTT	0.408		NA											11	42					0	0	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715886	13715886	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:13715886G>A	uc001rbt.2	-	13	4465	c.4286C>T	c.(4285-4287)CCG>CTG	p.P1429L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1429	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGAGACCACCGGCTTGTTGGT	0.607		NA											16	54					0	0	0	0
PUS7L	83448	broad.mit.edu	37	12	44148421	44148421	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:44148421C>G	uc001rnq.3	-	2	1117	c.628G>C	c.(628-630)GTA>CTA	p.V210L	PUS7L_uc001rnr.3_Missense_Mutation_p.V210L|PUS7L_uc001rns.3_Missense_Mutation_p.V210L|PUS7L_uc009zkb.2_Intron	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	210					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTTCAGATACCAAATGACAA	0.299		NA											4	24					0	0	0	0
KRT74	121391	broad.mit.edu	37	12	52965209	52965209	+	Silent	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:52965209C>A	uc001sap.1	-	4	825	c.777G>T	c.(775-777)GTG>GTT	p.V259V		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	keratin 6 irs4	259	Coil 1B.|Rod.					keratin filament	structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.191)		CCTGAAGCTCCACCTTGACTG	0.567		NA											16	54					2e-07	2.65e-07	1	0
TRHDE	29953	broad.mit.edu	37	12	72955951	72955951	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:72955951T>G	uc001sxa.2	+	8	1690	c.1660T>G	c.(1660-1662)TTA>GTA	p.L554V		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	554	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						GTAGGATTATTTAACCATTCA	0.274		NA											4	14					0	0	0	0
GPR133	283383	broad.mit.edu	37	12	131476850	131476850	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:131476850C>T	uc001uit.3	+	8	1438	c.879C>T	c.(877-879)CCC>CCT	p.P293P	GPR133_uc010tbm.1_Silent_p.P325P	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	293	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCAAAGTCCCGGAGTGATAC	0.458		NA											45	129					0	0	0	0
MMP17	4326	broad.mit.edu	37	12	132323155	132323155	+	Splice_Site	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:132323155A>G	uc001ujc.1	+	3	392	c.293_splice	c.e3-2	p.D98_splice	MMP17_uc001ujd.1_Splice_Site_p.D14_splice	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein						proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTTTCCCTGCAGACGAGGCCA	0.667		NA											4	13					0	0	0	0
FAM123A	219287	broad.mit.edu	37	13	25744231	25744231	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr13:25744231C>T	uc001uqb.2	-	1	1627	c.1527G>A	c.(1525-1527)CCG>CCA	p.P509P	FAM123A_uc001uqa.2_Silent_p.P390P|FAM123A_uc001uqc.2_Silent_p.P390P	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	509										ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCTCCTTCTCCGGGTGCTTGG	0.652		NA											18	65					0	0	0	0
ATP8A2	51761	broad.mit.edu	37	13	26104781	26104781	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr13:26104781G>A	uc001uqk.2	+	4	545	c.403G>A	c.(403-405)GAG>AAG	p.E135K	ATP8A2_uc010tdi.1_Missense_Mutation_p.E95K|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.E95K	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	95	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGGCATCAAAGAGATTGTAGA	0.353		NA											4	16					0	0	0	0
CHD8	57680	broad.mit.edu	37	14	21881157	21881157	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr14:21881157T>C	uc001was.1	-	10	1400	c.1306_splice	c.e10-1	p.D436_splice	CHD8_uc001war.1_Splice_Site_p.D332_splice	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8						ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTCTTCATCCTAGATGAGTTA	0.323		NA											6	20					0	0	0	0
DHRS7	51635	broad.mit.edu	37	14	60616104	60616104	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr14:60616104C>T	uc001xes.2	-	6	1123	c.939G>A	c.(937-939)GGG>GGA	p.G313G	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Silent_p.G263G|DHRS7_uc001xeu.2_Silent_p.G313G	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	313							binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TCCTTTTCTTCCCCATCTTGT	0.383		NA											15	56					0	0	0	0
SYNE2	23224	broad.mit.edu	37	14	64518705	64518705	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr14:64518705A>G	uc001xgm.2	+	48	8304	c.8074A>G	c.(8074-8076)AGG>GGG	p.R2692G	SYNE2_uc001xgl.2_Missense_Mutation_p.R2692G	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2692	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAGATGAAGAGGATTTGGGG	0.418		NA											15	87					0	0	0	0
ATG2B	55102	broad.mit.edu	37	14	96756776	96756776	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr14:96756776T>C	uc001yfi.2	-	40	6218	c.5853A>G	c.(5851-5853)ATA>ATG	p.I1951M		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1951										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAGATACCTGTATGGTTTGAA	0.423		NA											23	65					0	0	0	0
SPESP1	246777	broad.mit.edu	37	15	69238803	69238803	+	Silent	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr15:69238803C>G	uc002arn.1	+	2	1058	c.930C>G	c.(928-930)CTC>CTG	p.L310L	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	310					multicellular organismal development	acrosomal vesicle					0						GATCTAAACTCTATGAATATT	0.318		NA											15	42					0	0	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651117	84651117	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr15:84651117C>T	uc002bjz.3	+	21	2961	c.2737C>T	c.(2737-2739)CGT>TGT	p.R913C	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R913C|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.R913C	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	913	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAAGAGAAGCGTATTAACCT	0.473		NA											18	84					0	0	0	0
NTRK3	4916	broad.mit.edu	37	15	88799155	88799155	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr15:88799155G>C	uc002bme.1	-	2	392	c.230C>G	c.(229-231)TCA>TGA	p.S77*	NTRK3_uc002bmh.2_Nonsense_Mutation_p.S77*|NTRK3_uc002bmf.1_Nonsense_Mutation_p.S77*|NTRK3_uc010bnh.1_Nonsense_Mutation_p.S77*|NTRK3_uc002bmg.2_Nonsense_Mutation_p.S77*	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	77	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GATATTCCTTGAGATGTCCGT	0.547		NA	T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			19	60					0	0	0	0
ZNF710	374655	broad.mit.edu	37	15	90611533	90611533	+	Silent	SNP	C	C	T	rs144375764		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr15:90611533C>T	uc002bov.1	+	2	1287	c.1164C>T	c.(1162-1164)TTC>TTT	p.F388F		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	388	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCCGCGGCTTCGCCTACCCCA	0.642		NA											13	46					0	0	0	0
PDILT	204474	broad.mit.edu	37	16	20371931	20371931	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr16:20371931G>A	uc002dhc.1	-	11	1688	c.1465C>T	c.(1465-1467)CTG>TTG	p.L489L		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	489					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						TGGCTTTCCAGGAAGTCAGAG	0.473		NA											50	190					0	0	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801451	24801451	+	Silent	SNP	A	A	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr16:24801451A>T	uc002dmm.2	+	6	1602	c.1488A>T	c.(1486-1488)CCA>CCT	p.P496P	TNRC6A_uc010bxs.2_Silent_p.P243P|TNRC6A_uc010vcc.1_Silent_p.P243P|TNRC6A_uc002dmn.2_Silent_p.P243P|TNRC6A_uc002dmo.2_Silent_p.P243P	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	496	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TGCAGGCTCCATCAGGTATGA	0.473		NA											13	91					0	0	0	0
ATP2A1	487	broad.mit.edu	37	16	28912067	28912067	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr16:28912067G>A	uc002dro.1	+	15	2114	c.1930G>A	c.(1930-1932)GAG>AAG	p.E644K	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.E644K|ATP2A1_uc002drp.1_Missense_Mutation_p.E519K	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	644	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CATCTTTGGGGAGAACGAGGA	0.642		NA											15	64					0	0	0	0
WSCD1	23302	broad.mit.edu	37	17	5993711	5993711	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:5993711G>A	uc010cli.2	+	4	992	c.613G>A	c.(613-615)GTG>ATG	p.V205M	WSCD1_uc002gcn.2_Missense_Mutation_p.V205M|WSCD1_uc002gco.2_Missense_Mutation_p.V205M|WSCD1_uc010clj.2_Translation_Start_Site	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	205	WSC 1.					integral to membrane	sulfotransferase activity				0						AGCGGTGAGCGTGGGGCTGGA	0.662		NA											17	59					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578196	7578196	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:7578196A>C	uc002gim.2	-	6	847	c.653T>G	c.(652-654)GTG>GGG	p.V218G	TP53_uc002gig.1_Missense_Mutation_p.V218G|TP53_uc002gih.2_Missense_Mutation_p.V218G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V86G|TP53_uc010cng.1_Missense_Mutation_p.V86G|TP53_uc002gii.1_Missense_Mutation_p.V86G|TP53_uc010cnh.1_Missense_Mutation_p.V218G|TP53_uc010cni.1_Missense_Mutation_p.V218G|TP53_uc002gij.2_Missense_Mutation_p.V218G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V125G|TP53_uc002gio.2_Missense_Mutation_p.V86G|TP53_uc010vug.1_Missense_Mutation_p.V179G	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	218	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> E (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.V218E(8)|p.V218M(7)|p.0?(7)|p.V218G(5)|p.V218del(5)|p.V218A(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.?(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_P219insX(1)|p.V218L(1)|p.V218V(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.K164_P219del(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(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)		CTCATAGGGCACCACCACACT	0.552		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)			9	26					0	0	0	0
MYH13	8735	broad.mit.edu	37	17	10248895	10248895	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:10248895G>A	uc002gmk.1	-	14	1392	c.1302C>T	c.(1300-1302)TAC>TAT	p.Y434Y	MYH13_uc010vvf.1_Silent_p.Y109Y	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	434	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						ACATCTTCTCGTAGACGGCTT	0.517		NA											36	125					0	0	0	0
ABHD15	116236	broad.mit.edu	37	17	27889938	27889938	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:27889938C>A	uc002hed.1	-	2	1112	c.1048G>T	c.(1048-1050)GTG>TTG	p.V350L		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15 precursor	350						extracellular region	carboxylesterase activity				0						AGCACAGGCACGGCTGCCTCA	0.582		NA											7	47					0.000673444	0.000858966	1	0
TMEM132E	124842	broad.mit.edu	37	17	32953441	32953441	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:32953441G>A	uc002hif.2	+	2	691	c.363G>A	c.(361-363)ACG>ACA	p.T121T		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	121	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGCGCCTGACGGTGAACTGGA	0.697		NA											6	25					0	0	0	0
CCDC45	90799	broad.mit.edu	37	17	62533807	62533807	+	Silent	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:62533807T>C	uc002jem.2	+	20	2434	c.2376T>C	c.(2374-2376)GAT>GAC	p.D792D	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Silent_p.D628D	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	792	Potential.					centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGAATGATGATGATGTTTTCT	0.458		NA											6	27					0	0	0	0
CDK3	1018	broad.mit.edu	37	17	74001438	74001438	+	Silent	SNP	G	G	A	rs150329289		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:74001438G>A	uc010dgt.2	+	8	928	c.852G>A	c.(850-852)CCG>CCA	p.P284P	CDK3_uc002jqg.3_Silent_p.P312P	NM_001258	NP_001249	Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	284	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						TGGCCCACCCGTACTTCTCAT	0.582		NA											12	53					0	0	0	0
POTEC	388468	broad.mit.edu	37	18	14530502	14530502	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr18:14530502G>C	uc010dln.2	-	6	1560	c.1106C>G	c.(1105-1107)TCT>TGT	p.S369C	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	369	ANK 7.									skin(3)	3						GTTTTCAGAAGAGATTTTTAG	0.189		NA											3	27					0	0	0	0
ROCK1	6093	broad.mit.edu	37	18	18622625	18622625	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr18:18622625T>C	uc002kte.2	-	7	1662	c.721A>G	c.(721-723)ATT>GTT	p.I241V		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	241	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					TCAGGGGAAATATAATCAGGT	0.393		NA											10	32					0	0	0	0
MIB1	57534	broad.mit.edu	37	18	19429197	19429197	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr18:19429197G>C	uc002ktq.2	+	17	2434	c.2434G>C	c.(2434-2436)GAT>CAT	p.D812H	MIB1_uc002ktp.2_Missense_Mutation_p.D451H	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	mindbomb homolog 1	812					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)			GATTAGTAATGATTCTGAAAC	0.348		NA											47	198					0	0	0	0
CREB3L3	84699	broad.mit.edu	37	19	4164536	4164536	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:4164536C>T	uc002lzl.2	+	5	729	c.613C>T	c.(613-615)CCT>TCT	p.P205S	CREB3L3_uc002lzm.2_Missense_Mutation_p.P195S|CREB3L3_uc010xib.1_Missense_Mutation_p.P194S|CREB3L3_uc010xic.1_Missense_Mutation_p.P196S	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	205	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCTGCGACCTGGGGCTGG	0.582		NA											19	94					0	0	0	0
KHSRP	8570	broad.mit.edu	37	19	6422368	6422368	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:6422368C>T	uc002mer.3	-	2	439	c.329G>A	c.(328-330)AGA>AAA	p.R110K		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	110	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			skin(1)	1						TTCCAACTGTCTCTTTTGGCC	0.493		NA											19	96					0	0	0	0
MYO9B	4650	broad.mit.edu	37	19	17270248	17270248	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:17270248C>T	uc010eak.2	+	8	1525	c.1373C>T	c.(1372-1374)ACG>ATG	p.T458M	MYO9B_uc002nfi.2_Missense_Mutation_p.T458M|MYO9B_uc002nfj.1_Missense_Mutation_p.T458M	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	458	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						AAAAGAAAAACGGTGACCGTC	0.522		NA											6	13					0	0	0	0
ITPKC	80271	broad.mit.edu	37	19	41223543	41223543	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:41223543G>T	uc002oot.2	+	1	536	c.503G>T	c.(502-504)GGG>GTG	p.G168V	ADCK4_uc002ooq.1_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	inositol 1,4,5-trisphosphate 3-kinase C	168						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity				0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACACAGCCAGGGGTTCATGGG	0.607		NA											19	40					1.16e-05	1.52e-05	1	0
LMTK3	114783	broad.mit.edu	37	19	49013282	49013282	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:49013282G>A	uc002pjk.2	-	4	446	c.446C>T	c.(445-447)TCA>TTA	p.S149L		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGCAGTACCTGAGTGTGAAGG	0.622		NA											10	33					0	0	0	0
ZNF432	9668	broad.mit.edu	37	19	52537191	52537191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:52537191C>A	uc002pyk.2	-	5	2059	c.1741G>T	c.(1741-1743)GAA>TAA	p.E581*		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	581	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGCTCTGTTTCCTTGGCAAAG	0.378		NA											28	63					9.39e-14	1.29e-13	1	0
KIR2DL1	3802	broad.mit.edu	37	19	55281317	55281317	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:55281317C>T	uc002qhb.1	+	1	53	c.15C>T	c.(13-15)GTC>GTT	p.V5V	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_RNA|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Silent_p.V5V	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	5					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		CGCTCTTGGTCGTCAGCATGG	0.602		NA									OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	32	37					0	0	0	0
PEG3	5178	broad.mit.edu	37	19	57326231	57326231	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:57326231C>A	uc002qnu.2	-	7	3930	c.3579G>T	c.(3577-3579)ATG>ATT	p.M1193I	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M1164I|PEG3_uc002qnv.2_Missense_Mutation_p.M1193I|PEG3_uc002qnw.2_Missense_Mutation_p.M1069I|PEG3_uc002qnx.2_Missense_Mutation_p.M1067I|PEG3_uc010etr.2_Missense_Mutation_p.M1193I	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1193					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACACCCCTTCATGGAATACA	0.473		NA											21	93					1.5e-11	2.05e-11	1	0
USP29	57663	broad.mit.edu	37	19	57640945	57640945	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:57640945A>C	uc002qny.2	+	4	1258	c.902A>C	c.(901-903)CAA>CCA	p.Q301P		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	301					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAGTTTTACAATCGCTATTT	0.448		NA											7	58					0	0	0	0
ZNF530	348327	broad.mit.edu	37	19	58117555	58117555	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:58117555G>C	uc002qpk.2	+	3	882	c.662G>C	c.(661-663)AGA>ACA	p.R221T	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAATCTTTTAGAGAGAAATCT	0.438		NA											3	69					0	0	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565265	58565265	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:58565265G>A	uc002qrc.1	+	6	1320	c.1073G>A	c.(1072-1074)CGG>CAG	p.R358Q		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	358					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGGGCCCCCGGGAGTCCGTC	0.662		NA											10	37					0	0	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366549	40366549	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:40366549G>C	uc002rrx.2	-	9	2561	c.2537C>G	c.(2536-2538)TCA>TGA	p.S846*	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Nonsense_Mutation_p.S841*|SLC8A1_uc002rrz.2_Nonsense_Mutation_p.S833*|SLC8A1_uc002rsa.2_Nonsense_Mutation_p.S810*|SLC8A1_uc002rsd.3_Nonsense_Mutation_p.S810*	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	846	Extracellular (Potential).|Alpha-2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCTGGCACTGATGTTCCAAG	0.453		NA											10	20					0	0	0	0
INPP4A	3631	broad.mit.edu	37	2	99154409	99154409	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:99154409C>T	uc002syy.2	+	8	944	c.551C>T	c.(550-552)ACC>ATC	p.T184I	INPP4A_uc010yvj.1_Missense_Mutation_p.T184I|INPP4A_uc010yvk.1_Missense_Mutation_p.T184I|INPP4A_uc002syx.2_Missense_Mutation_p.T184I|INPP4A_uc010fik.2_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	184					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						CCCCCTGTGACCCGGTCTGTG	0.522		NA											5	16					0	0	0	0
ACVR2A	92	broad.mit.edu	37	2	148653878	148653878	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:148653878C>G	uc002twg.2	+	3	333	c.64C>G	c.(64-66)CTT>GTT	p.L22V	ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Missense_Mutation_p.L22V	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	22	Extracellular (Potential).				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AGGTGCTATACTTGGTAGATC	0.328		NA											7	49					0	0	0	0
BAZ2B	29994	broad.mit.edu	37	2	160243034	160243034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:160243034G>A	uc002uao.2	-	22	3653	c.3301C>T	c.(3301-3303)CGA>TGA	p.R1101*	BAZ2B_uc002uap.2_Nonsense_Mutation_p.R1065*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1101	DDT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						CCAAAGTTTCGTAAGAACTGC	0.408		NA											13	45					0	0	0	0
FAM113A	64773	broad.mit.edu	37	20	2819570	2819570	+	Silent	SNP	A	A	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:2819570A>C	uc002wgz.1	-	4	860	c.363T>G	c.(361-363)CTT>CTG	p.L121L	FAM113A_uc002whb.1_Intron|FAM113A_uc002wha.1_5'UTR|FAM113A_uc010zqa.1_5'UTR|FAM113A_uc002whc.1_Silent_p.L70L|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	121							hydrolase activity|protein binding			ovary(2)	2						GAACATCCTCAAGGTACTCGG	0.577		NA											5	94					0	0	0	0
CRLS1	54675	broad.mit.edu	37	20	5990553	5990553	+	Missense_Mutation	SNP	G	G	C	rs59962100		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:5990553G>C	uc002wmn.3	+	2	593	c.439G>C	c.(439-441)GAT>CAT	p.D147H	CRLS1_uc010gbq.2_RNA|CRLS1_uc010gbr.2_Missense_Mutation_p.D48H|CRLS1_uc010gbs.1_Missense_Mutation_p.D36H	NM_019095	NP_061968	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1 isoform 1	147	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups				0						TGGACTAACAGATTTGGTAAG	0.413		NA											5	51					0	0	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44422617	44422617	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:44422617C>T	uc002xpk.2	+	3	302	c.234C>T	c.(232-234)ATC>ATT	p.I78I	WFDC3_uc002xpf.1_5'Flank|WFDC3_uc002xpj.1_5'Flank|WFDC3_uc002xph.1_5'Flank|WFDC3_uc010ghh.1_5'Flank	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	terminal deoxynucleotidyltransferase interacting	78						nucleus				ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.0122)				AGCCCAGCATCAACGAGGAGA	0.522		NA											19	65					0	0	0	0
NFATC2	4773	broad.mit.edu	37	20	50007976	50007976	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:50007976A>G	uc002xwd.2	-	10	2955	c.2735T>C	c.(2734-2736)ATC>ACC	p.I912T	NFATC2_uc002xwc.2_3'UTR|NFATC2_uc010zyv.1_3'UTR|NFATC2_uc010zyw.1_Missense_Mutation_p.I693T|NFATC2_uc010zyx.1_3'UTR|NFATC2_uc010zyy.1_3'UTR|NFATC2_uc010zyz.1_Missense_Mutation_p.I693T|NFATC2_uc002xwe.2_Missense_Mutation_p.I892T	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	912	Nuclear export signal.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					CTCCTTCCTGATAATTTCATT	0.483		NA											25	63					0	0	0	0
SRMS	6725	broad.mit.edu	37	20	62178520	62178520	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:62178520G>A	uc002yfi.1	-	1	338	c.297C>T	c.(295-297)GCC>GCT	p.A99A		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory	99	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|lung(1)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCACGAGCCCGGCGCTGGGCT	0.697		NA											25	48					0	0	0	0
GRIK1	2897	broad.mit.edu	37	21	31311810	31311810	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr21:31311810G>A	uc002yno.1	-	1	473	c.9C>T	c.(7-9)CAC>CAT	p.H3H	GRIK1_uc002ynn.2_Silent_p.H3H|GRIK1_uc011acs.1_Silent_p.H3H|GRIK1_uc011act.1_Silent_p.H3H|GRIK1_uc010glq.1_Silent_p.H3H|GRIK1_uc002ynr.2_Silent_p.H3H	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	3					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGAGTGTGCCGTGCTCCATCT	0.622		NA											4	10					0	0	0	0
COL6A1	1291	broad.mit.edu	37	21	47404294	47404294	+	Silent	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr21:47404294C>G	uc002zhu.1	+	3	441	c.339C>G	c.(337-339)CTC>CTG	p.L113L		NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	113	VWFA 1.|N-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCGACGCACTCAAAAGCAGCG	0.632		NA											7	20					0	0	0	0
MED15	51586	broad.mit.edu	37	22	20940876	20940876	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:20940876C>T	uc002zsp.2	+	18	2332	c.2252C>T	c.(2251-2253)TCG>TTG	p.S751L	MED15_uc002zsq.2_Missense_Mutation_p.S711L|MED15_uc010gso.2_Missense_Mutation_p.S694L|MED15_uc002zsr.2_Missense_Mutation_p.S685L|MED15_uc011ahs.1_Missense_Mutation_p.S685L|MED15_uc002zss.2_Missense_Mutation_p.S630L|MED15_uc011ahu.1_Missense_Mutation_p.S461L|MED15_uc002zst.2_Missense_Mutation_p.S367L|MED15_uc002zsu.2_Missense_Mutation_p.S356L	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	751					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TTCCTCCAGTCGGTGCACCGC	0.677		NA											27	65					0	0	0	0
CRYBB3	1417	broad.mit.edu	37	22	25601219	25601219	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:25601219G>A	uc003abo.1	+	5	432	c.360G>A	c.(358-360)GAG>GAA	p.E120E		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	120	Beta/gamma crystallin 'Greek key' 3.				visual perception		protein binding|structural constituent of eye lens				0						ATCTGTTTGAGAACCCAGCTT	0.567		NA											14	49					0	0	0	0
PLA2G6	8398	broad.mit.edu	37	22	38508233	38508233	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:38508233C>T	uc003auy.1	-	17	2492	c.2356G>A	c.(2356-2358)GAG>AAG	p.E786K	PLA2G6_uc003auz.1_Missense_Mutation_p.E732K|PLA2G6_uc003ava.1_Missense_Mutation_p.E786K|PLA2G6_uc003avb.2_Missense_Mutation_p.E732K|BAIAP2L2_uc003auw.2_5'Flank|PLA2G6_uc003aux.1_3'UTR	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	786					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	ATGTAGACCTCGGTCTCCCAG	0.622		NA											4	14					0	0	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716549	50716549	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:50716549G>A	uc003bkv.3	-	31	4990	c.4884C>T	c.(4882-4884)GTC>GTT	p.V1628V	PLXNB2_uc003bkt.1_Silent_p.V420V|PLXNB2_uc003bku.1_Silent_p.V613V	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1628	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCCACCTTGACTGAGAGCA	0.687		NA											7	25					0	0	0	0
CPT1B	1375	broad.mit.edu	37	22	51010715	51010715	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:51010715G>C	uc003bmk.3	-	11	1537	c.1375C>G	c.(1375-1377)CTC>GTC	p.L459V	CPT1B_uc003bml.2_Missense_Mutation_p.L459V|CPT1B_uc003bmm.2_Missense_Mutation_p.L459V|CPT1B_uc003bmo.2_Missense_Mutation_p.L459V|CPT1B_uc011asa.1_Missense_Mutation_p.L425V|CPT1B_uc003bmn.2_Missense_Mutation_p.L459V|CPT1B_uc011asb.1_Missense_Mutation_p.L378V|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.L256V|uc003bmr.1_RNA	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	459	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AAGGAAATGAGAGTGAAGGAT	0.478		NA											8	39					0	0	0	0
FYCO1	79443	broad.mit.edu	37	3	46008282	46008282	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:46008282G>A	uc003cpb.3	-	8	2750	c.2544C>T	c.(2542-2544)TGC>TGT	p.C848C	FYCO1_uc011bal.1_Silent_p.C848C	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	848	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CACGCTCCGAGCATTGCAGCA	0.627		NA											11	24					0	0	0	0
CELSR3	1951	broad.mit.edu	37	3	48697921	48697921	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:48697921C>T	uc003cul.2	-	1	2428	c.2147G>A	c.(2146-2148)CGT>CAT	p.R716H	CELSR3_uc003cuf.1_Missense_Mutation_p.R786H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	716	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACAGACTCACGGTCCAGGGG	0.557		NA											12	26					0	0	0	0
OR5H6	79295	broad.mit.edu	37	3	97983471	97983471	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:97983471G>C	uc003dsi.1	+	1	343	c.343G>C	c.(343-345)GTA>CTA	p.V115L		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	115	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3						TGAATGCATGGTACAATTTTT	0.388		NA											23	113					0	0	0	0
GTPBP8	29083	broad.mit.edu	37	3	112718380	112718380	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:112718380C>G	uc003dzn.2	+	5	801	c.754C>G	c.(754-756)CAA>GAA	p.Q252E	GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Missense_Mutation_p.Q219E	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 isoform 1	252					barrier septum formation		GTP binding				0						CATGAAAACTCAAGGATGTTT	0.289		NA											14	65					0	0	0	0
FSTL1	11167	broad.mit.edu	37	3	120130792	120130792	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:120130792A>C	uc003eds.2	-	4	382	c.207T>G	c.(205-207)AAT>AAG	p.N69K	FSTL1_uc011bjh.1_Missense_Mutation_p.N34K|FSTL1_uc010hrb.2_Missense_Mutation_p.N69K	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	69	Kazal-like.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)		AGGTCTTGCCATTACTGCCAC	0.433		NA											25	81					0	0	0	0
ATR	545	broad.mit.edu	37	3	142185265	142185265	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:142185265C>G	uc003eux.3	-	40	6920	c.6798G>C	c.(6796-6798)ATG>ATC	p.M2266I	ATR_uc003euy.1_Missense_Mutation_p.M152I	NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	2266					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						GTGTAGGTATCATGACTGATT	0.403		NA						Other_conserved_DNA_damage_response_genes					9	49					0	0	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176765338	176765338	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:176765338C>G	uc003fiw.3	-	8	963	c.703_splice	c.e8-1	p.S235_splice	TBL1XR1_uc003fix.3_Splice_Site_p.S235_splice|TBL1XR1_uc011bpz.1_Splice_Site	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1						canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TACCTTCACTCTGCCAGAGAA	0.328		NA											8	29					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			11	43					0	0	0	0
EPHB3	2049	broad.mit.edu	37	3	184294876	184294876	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:184294876G>A	uc003foz.2	+	5	1696	c.1259G>A	c.(1258-1260)CGC>CAC	p.R420H		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	420	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCCACACGCGCTACACCTTT	0.627		NA											19	40					0	0	0	0
ADD1	118	broad.mit.edu	37	4	2930158	2930158	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:2930158G>A	uc003gfr.2	+	15	2310	c.2122G>A	c.(2122-2124)GAT>AAT	p.D708N	ADD1_uc003gfn.2_RNA|ADD1_uc003gfo.2_3'UTR|ADD1_uc003gfp.2_3'UTR|ADD1_uc003gfq.2_Missense_Mutation_p.D739N|ADD1_uc003gfs.2_3'UTR	NM_001119	NP_001110	P35611	ADDA_HUMAN	adducin 1 (alpha) isoform a	708					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCTGGCAGCGATGGGTCTCC	0.632		NA											28	99					0	0	0	0
AFM	173	broad.mit.edu	37	4	74350097	74350097	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:74350097C>T	uc003hhb.2	+	3	291	c.260C>T	c.(259-261)TCA>TTA	p.S87L		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	87	Albumin 1.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAGAGTGTTCAAAATTACCT	0.279		NA											12	32					0	0	0	0
FNIP2	57600	broad.mit.edu	37	4	159753081	159753081	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:159753081C>T	uc003iqe.3	+	4	633	c.450C>T	c.(448-450)TAC>TAT	p.Y150Y	FNIP2_uc003iqd.2_Silent_p.Y150Y	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	150					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CCATGAGTTACAAAGGCTCCA	0.408		NA											5	15					0	0	0	0
WDR17	116966	broad.mit.edu	37	4	177071078	177071078	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:177071078G>C	uc003iuj.2	+	15	2246	c.2090G>C	c.(2089-2091)AGA>ACA	p.R697T	WDR17_uc003iuk.2_Missense_Mutation_p.R673T|WDR17_uc003ium.3_Missense_Mutation_p.R673T|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'Flank	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	697										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTGGCAGACAGATCTTGGGAA	0.383		NA											3	83					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187522449	187522449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:187522449G>A	uc003izf.2	-	21	11802	c.11614C>T	c.(11614-11616)CGA>TGA	p.R3872*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3872	Extracellular (Potential).|Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TCAGTTCCTCGAGCATACATG	0.393		NA								HNSCC(5;0.00058)			11	27					0	0	0	0
NUP155	9631	broad.mit.edu	37	5	37303483	37303483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:37303483G>A	uc003jku.1	-	28	3314	c.3196C>T	c.(3196-3198)CGA>TGA	p.R1066*	NUP155_uc003jkt.1_Nonsense_Mutation_p.R1007*|NUP155_uc010iuz.1_Nonsense_Mutation_p.R1002*	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	1066					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGGCCATTCGGACTAGATGT	0.378		NA											13	37					0	0	0	0
C7	730	broad.mit.edu	37	5	40936557	40936557	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:40936557C>A	uc003jmh.2	+	5	512	c.398C>A	c.(397-399)CCT>CAT	p.P133H	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	133	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)				ATCGATAAACCTCCTCCTAAC	0.403		NA											17	26					6.94e-10	9.35e-10	1	0
CCDC125	202243	broad.mit.edu	37	5	68581236	68581236	+	Silent	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:68581236A>G	uc003jvv.1	-	10	1201	c.1158T>C	c.(1156-1158)CCT>CCC	p.P386P	CCDC125_uc003jvx.1_Missense_Mutation_p.L327P|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Silent_p.P261P	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	386						cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TGTTTTCTGAAGGGAGCATAC	0.418		NA											17	57					0	0	0	0
SPATA9	83890	broad.mit.edu	37	5	94994576	94994576	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:94994576G>C	uc003klj.1	-	5	672	c.516C>G	c.(514-516)ATC>ATG	p.I172M	SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_RNA	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	172					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CTTCCTGGAAGATGTTCTTTA	0.383		NA											12	53					0	0	0	0
KCNN2	3781	broad.mit.edu	37	5	113831673	113831673	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:113831673A>G	uc003kqo.2	+	8	1991	c.1534A>G	c.(1534-1536)ACA>GCA	p.T512A	KCNN2_uc003kqp.2_Missense_Mutation_p.T164A|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	512						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TACCCTGGAAACAAAACTAGA	0.448		NA											20	116					0	0	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501700	140501700	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:140501700C>T	uc003lip.1	+	1	120	c.120C>T	c.(118-120)AGC>AGT	p.S40S		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	40	Cadherin 1.|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)			AAACAGAGAGCGGCTCCTTTG	0.537		NA											11	57					0	0	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741612	140741612	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:140741612C>T	uc003ljs.1	+	1	1910	c.1910C>T	c.(1909-1911)GCG>GTG	p.A637V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.A637V|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	637	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGGGACGCGGCCCGCCAG	0.692		NA											8	17					0	0	0	0
SH3TC2	79628	broad.mit.edu	37	5	148386619	148386619	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:148386619A>G	uc003lpu.2	-	16	3652	c.3500T>C	c.(3499-3501)GTG>GCG	p.V1167A	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.V811A|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.V714A|SH3TC2_uc010jgx.2_Missense_Mutation_p.V1160A	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1167	TPR 7.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAAAGGCCACCAGCTCTTG	0.458		NA											18	80					0	0	0	0
ARSI	340075	broad.mit.edu	37	5	149677008	149677008	+	Silent	SNP	G	G	A	rs141146390		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:149677008G>A	uc003lrv.2	-	2	2068	c.1479C>T	c.(1477-1479)GCC>GCT	p.A493A		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	493						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTTATATTCGGCCAGGCGAG	0.632		NA											25	95					0	0	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216707	26216707	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:26216707G>C	uc003ngz.2	-	1	166	c.165C>G	c.(163-165)ATC>ATG	p.I55M	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003509	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	55					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)				CCTTGGATGAGATGCCAGTAT	0.537		NA											39	206					0	0	0	0
OR2J2	26707	broad.mit.edu	37	6	29142034	29142034	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:29142034G>T	uc011dlm.1	+	1	724	c.622G>T	c.(622-624)GTT>TTT	p.V208F		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTCCATTTTTGTTCTCATACC	0.468		NA											43	109					2.27e-22	3.16e-22	1	0
KCNK5	8645	broad.mit.edu	37	6	39158824	39158824	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:39158824T>C	uc003oon.2	-	5	1706	c.1342A>G	c.(1342-1344)AGC>GGC	p.S448G		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	448					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						TGCTGGGGGCTCTCCTCCCCT	0.627		NA											4	12					0	0	0	0
LGSN	51557	broad.mit.edu	37	6	63989944	63989944	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:63989944G>A	uc003peh.2	-	4	1546	c.1512C>T	c.(1510-1512)TTC>TTT	p.F504F	LGSN_uc003pei.2_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	504					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)	AATACTCTAAGAATTTATTTC	0.328		NA											9	55					0	0	0	0
MYO6	4646	broad.mit.edu	37	6	76591501	76591501	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:76591501G>A	uc003pih.1	+	23	2661	c.2382G>A	c.(2380-2382)AAG>AAA	p.K794K	MYO6_uc003pig.1_Silent_p.K794K|MYO6_uc003pii.1_Silent_p.K794K	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	794	Required for binding calmodulin (By similarity).				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTCGCTGGAAGAAAGTTCAGT	0.418		NA											23	77					0	0	0	0
MDN1	23195	broad.mit.edu	37	6	90392899	90392899	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:90392899C>T	uc003pnn.1	-	73	12170	c.12054G>A	c.(12052-12054)CTG>CTA	p.L4018L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4018					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGCCCTGTTCAGATTCTGAA	0.547		NA											18	47					0	0	0	0
RFX6	222546	broad.mit.edu	37	6	117246698	117246698	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:117246698C>T	uc003pxm.2	+	16	1824	c.1761C>T	c.(1759-1761)GAC>GAT	p.D587D		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	587					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3						TTTCCAGCGACGCTGTGAAGA	0.517		NA											30	95					0	0	0	0
CLVS2	134829	broad.mit.edu	37	6	123319045	123319045	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:123319045G>C	uc003pzi.1	+	2	992	c.123G>C	c.(121-123)AGG>AGC	p.R41S		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	41					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						TCATCACCAGGCCGGACATTG	0.567		NA											19	53					0	0	0	0
C6orf118	168090	broad.mit.edu	37	6	165706919	165706919	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:165706919G>A	uc003qum.3	-	6	1139	c.1103C>T	c.(1102-1104)TCT>TTT	p.S368F	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	368	Potential.										0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCCTTTGCAGACTGCAGCAA	0.453		NA											39	109					0	0	0	0
DNAH11	8701	broad.mit.edu	37	7	21882167	21882167	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:21882167T>A	uc003svc.2	+	67	10749	c.10718T>A	c.(10717-10719)ATC>AAC	p.I3573N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3573	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TTTAGGTATATCAGGATTGGA	0.388		NA							Kartagener_syndrome				8	39					0	0	0	0
C7orf30	115416	broad.mit.edu	37	7	23339007	23339007	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:23339007C>T	uc003swd.1	+	1	68	c.36C>T	c.(34-36)GCC>GCT	p.A12A		NM_138446	NP_612455	Q96EH3	CG030_HUMAN	hypothetical protein LOC115416	12						mitochondrion					0			GBM - Glioblastoma multiforme(13;0.154)			GGCTGCTCGCCCCACTAATGT	0.716		NA											4	15					0	0	0	0
TBX20	57057	broad.mit.edu	37	7	35244106	35244106	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:35244106C>T	uc011kas.1	-	7	990	c.979G>A	c.(979-981)GAG>AAG	p.E327K		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	327						nucleus	DNA binding			central_nervous_system(1)	1						GTCTGACTCTCATCCCCCAAG	0.512		NA											10	36					0	0	0	0
ABCA13	154664	broad.mit.edu	37	7	48284272	48284272	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:48284272G>A	uc003toq.2	+	11	1387	c.1362G>A	c.(1360-1362)GCG>GCA	p.A454A	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	454					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TCAGAAATGCGATAGCTCAGA	0.418		NA											18	53					0	0	0	0
SEMA3A	10371	broad.mit.edu	37	7	83764187	83764187	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:83764187C>T	uc003uhz.2	-	2	508	c.193G>A	c.(193-195)GAA>AAA	p.E65K		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	65	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						CTACTCCGTTCCTCATCCAAA	0.383		NA											17	40					0	0	0	0
ASAH1	427	broad.mit.edu	37	8	17918918	17918918	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:17918918G>C	uc003wyl.2	-	10	1065	c.753C>G	c.(751-753)TTC>TTG	p.F251L	ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.F226L|ASAH1_uc003wyn.2_Missense_Mutation_p.F267L|ASAH1_uc003wyo.2_Missense_Mutation_p.F245L	NM_177924	NP_808592	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase 1 isoform a	251					ceramide metabolic process	lysosome	ceramidase activity				0				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTCTAGTGAGGAACCCTATCC	0.318		NA											12	48					0	0	0	0
ENTPD4	9583	broad.mit.edu	37	8	23306270	23306270	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:23306270T>C	uc003xdl.2	-	3	355	c.191A>G	c.(190-192)GAC>GGC	p.D64G	ENTPD4_uc011kzu.1_Missense_Mutation_p.D64G|ENTPD4_uc003xdm.2_Missense_Mutation_p.D64G|ENTPD4_uc011kzv.1_Missense_Mutation_p.D64G|ENTPD4_uc011kzw.1_Missense_Mutation_p.D30G	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	64	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AAATTTCTTGTCTCTGGTTAG	0.299		NA											17	58					0	0	0	0
DOCK5	80005	broad.mit.edu	37	8	25267635	25267635	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:25267635G>A	uc003xeg.2	+	51	5562	c.5425G>A	c.(5425-5427)GAT>AAT	p.D1809N	PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1809	Pro-rich.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTGCAGACAGATGGAATCGC	0.552		NA											9	17					0	0	0	0
CSPP1	79848	broad.mit.edu	37	8	68028171	68028171	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:68028171G>T	uc003xxi.2	+	13	1431	c.1400G>T	c.(1399-1401)AGT>ATT	p.S467I	CSPP1_uc003xxg.1_Missense_Mutation_p.S459I|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.S432I|CSPP1_uc003xxk.2_Missense_Mutation_p.S138I	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	467						centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGCAGTTTAGTGTGGCACCA	0.413		NA											14	81					4.38e-07	5.8e-07	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70585257	70585257	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:70585257G>A	uc003xyl.2	-	10	3101	c.2394C>T	c.(2392-2394)TTC>TTT	p.F798F	SLCO5A1_uc010lzb.2_Silent_p.F743F|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	798	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCTGGGTGCTGAAAGCTGGGC	0.577		NA											26	120					0	0	0	0
RUNX1T1	862	broad.mit.edu	37	8	93026818	93026818	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:93026818G>A	uc003yfd.2	-	3	541	c.457C>T	c.(457-459)CTG>TTG	p.L153L	RUNX1T1_uc003yfc.1_Silent_p.L126L|RUNX1T1_uc003yfe.1_Silent_p.L116L|RUNX1T1_uc010mao.2_Silent_p.L126L|RUNX1T1_uc011lgi.1_Silent_p.L164L|RUNX1T1_uc003yfh.1_Silent_p.L116L|RUNX1T1_uc003yfb.1_Silent_p.L116L|RUNX1T1_uc003yff.1_Silent_p.L116L|RUNX1T1_uc003yfg.1_Silent_p.L116L	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	153	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTAGTCCCAGAACGAGGGTG	0.493		NA											41	74					0	0	0	0
CSMD3	114788	broad.mit.edu	37	8	113564847	113564847	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:113564847T>A	uc003ynu.2	-	26	4496	c.4337A>T	c.(4336-4338)GAG>GTG	p.E1446V	CSMD3_uc003yns.2_Missense_Mutation_p.E718V|CSMD3_uc003ynt.2_Missense_Mutation_p.E1406V|CSMD3_uc011lhx.1_Missense_Mutation_p.E1342V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1446	Extracellular (Potential).|CUB 8.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AGGATCTACCTCAATCATCCA	0.373		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	34					0	0	0	0
FER1L6	654463	broad.mit.edu	37	8	125094566	125094566	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:125094566C>T	uc003yqw.2	+	33	4464	c.4258C>T	c.(4258-4260)CTG>TTG	p.L1420L	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1420	C2 5.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAAAGAGTCCCTGCTCTCCAT	0.488		NA											43	149					0	0	0	0
LRRC6	23639	broad.mit.edu	37	8	133622423	133622423	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:133622423A>T	uc003ytk.2	-	10	1203	c.1129T>A	c.(1129-1131)TGC>AGC	p.C377S	LRRC6_uc003ytl.2_RNA	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	377	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)			TTGGGCATGCAGATGACCAAA	0.433		NA											12	78					0	0	0	0
KIAA2026	158358	broad.mit.edu	37	9	5922609	5922609	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:5922609C>T	uc003zjq.3	-	8	3603	c.3387G>A	c.(3385-3387)CAG>CAA	p.Q1129Q	KIAA2026_uc010mht.2_Silent_p.Q304Q	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1129										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTGTACCTTTCTGTTGAAGTG	0.368		NA											4	83					0	0	0	0
TRPM3	80036	broad.mit.edu	37	9	73457992	73457992	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:73457992C>G	uc004aid.2	-	5	972	c.728G>C	c.(727-729)CGA>CCA	p.R243P	TRPM3_uc004ahu.2_Missense_Mutation_p.R73P|TRPM3_uc004ahv.2_Missense_Mutation_p.R73P|TRPM3_uc004ahw.2_Missense_Mutation_p.R90P|TRPM3_uc004ahx.2_Missense_Mutation_p.R90P|TRPM3_uc004ahy.2_Missense_Mutation_p.R90P|TRPM3_uc004ahz.2_Missense_Mutation_p.R90P|TRPM3_uc004aia.2_Missense_Mutation_p.R90P|TRPM3_uc004aib.2_Missense_Mutation_p.R90P|TRPM3_uc004aic.2_Missense_Mutation_p.R243P|TRPM3_uc010mor.2_Missense_Mutation_p.R243P|TRPM3_uc004aie.2_Missense_Mutation_p.R90P|TRPM3_uc004aif.2_Missense_Mutation_p.R90P|TRPM3_uc004aig.2_Missense_Mutation_p.R90P|TRPM3_uc004aii.2_Missense_Mutation_p.R245P	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	243	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TATCTTTCCTCGAGACTTAGA	0.423		NA											7	38					0	0	0	0
TRPM6	140803	broad.mit.edu	37	9	77377455	77377455	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:77377455C>T	uc004ajl.1	-	26	4370	c.4132G>A	c.(4132-4134)GAC>AAC	p.D1378N	TRPM6_uc004ajk.1_Missense_Mutation_p.D1373N|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.D334N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1378	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						GTCTGGATGTCCTGTTCAGTT	0.512		NA											26	89					0	0	0	0
C9orf3	84909	broad.mit.edu	37	9	97522832	97522832	+	Missense_Mutation	SNP	C	C	T	rs145414026		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:97522832C>T	uc004ava.2	+	1	902	c.767C>T	c.(766-768)TCG>TTG	p.S256L	C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.S256L|C9orf3_uc004auy.2_Missense_Mutation_p.S256L|C9orf3_uc004auz.1_Missense_Mutation_p.S256L	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	256					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GAAGGGCGATCGGTTACATGG	0.488		NA											5	18					0	0	0	0
DBC1	1620	broad.mit.edu	37	9	121929788	121929788	+	Silent	SNP	A	A	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:121929788A>T	uc004bkc.2	-	8	2316	c.1860T>A	c.(1858-1860)CGT>CGA	p.R620R		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	620					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GAGTCCGACTACGTAGGTAGA	0.537		NA											33	107					0	0	0	0
OBP2A	29991	broad.mit.edu	37	9	138439759	138439759	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:138439759C>T	uc004cgb.2	+	4	362	c.320C>T	c.(319-321)ACG>ATG	p.T107M	OBP2A_uc004cgc.2_Missense_Mutation_p.T107M|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Silent_p.D62D	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN	odorant binding protein 2A precursor	107					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGCCCGGGACGGACGACTAC	0.607		NA											10	26					0	0	0	0
PNPLA7	375775	broad.mit.edu	37	9	140437130	140437130	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:140437130C>T	uc004cnf.2	-	6	892	c.555G>A	c.(553-555)GTG>GTA	p.V185V	PNPLA7_uc010ncj.1_Silent_p.V210V	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	185	cNMP 1.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCCGTCCTGCACCACACAGA	0.642		NA											17	40					0	0	0	0
DDX53	168400	broad.mit.edu	37	X	23019111	23019111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:23019111G>T	uc004daj.2	+	1	1025	c.937G>T	c.(937-939)GAA>TAA	p.E313*		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	313	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			large_intestine(1)|ovary(1)|kidney(1)	3						TCTTCACGTGGAAGCTGAATG	0.398		NA											24	49					5.24e-26	7.34e-26	1	0
CXorf22	170063	broad.mit.edu	37	X	35989886	35989886	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:35989886A>C	uc004ddj.2	+	12	2213	c.2154A>C	c.(2152-2154)AGA>AGC	p.R718S	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	718										large_intestine(1)|lung(1)|ovary(1)	3						CTGTGAGAAGAAAGGCACGTG	0.363		NA											16	20					0	0	0	0
RIBC1	158787	broad.mit.edu	37	X	53455530	53455530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:53455530C>T	uc004dsk.2	+	5	652	c.499C>T	c.(499-501)CAA>TAA	p.Q167*	RIBC1_uc004dsj.1_Nonsense_Mutation_p.Q167*|RIBC1_uc011mog.1_Intron	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1 isoform 1	167											0						CTTGGAAAGGCAACAGCAGGA	0.562		NA											15	9					0	0	0	0
OGT	8473	broad.mit.edu	37	X	70787355	70787355	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:70787355G>A	uc004eaa.1	+	20	2812	c.2595G>A	c.(2593-2595)CTG>CTA	p.L865L	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.L855L|OGT_uc004eac.2_Silent_p.L726L|OGT_uc004ead.2_Silent_p.L484L	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	865					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					TTTAGATTCTGAAGCGTGTTC	0.398		NA											18	40					0	0	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433920	72433920	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:72433920C>T	uc004ebi.2	-	1	765	c.409G>A	c.(409-411)GAA>AAA	p.E137K	NAP1L2_uc011mqj.1_5'UTR	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	137					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					AACTTTCTTTCAATGTCATGA	0.373		NA											29	99					0	0	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960449	73960449	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:73960449C>A	uc004eby.2	-	3	4560	c.3943G>T	c.(3943-3945)GAG>TAG	p.E1315*		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1315					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						TAGGAAGGCTCCTGAAATTCC	0.532		NA											37	110					7e-10	9.39e-10	1	0
TBX22	50945	broad.mit.edu	37	X	79281179	79281179	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:79281179A>T	uc010nmg.1	+	5	670	c.536A>T	c.(535-537)CAC>CTC	p.H179L	TBX22_uc004edi.1_Missense_Mutation_p.H59L|TBX22_uc004edj.1_Missense_Mutation_p.H179L	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	179	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						TTCTATGTTCACCCGGACTCA	0.488		NA											25	71					0	0	0	0
BRWD3	254065	broad.mit.edu	37	X	79946660	79946660	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:79946660G>C	uc004edt.2	-	31	3757	c.3494C>G	c.(3493-3495)CCT>CGT	p.P1165R	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.P761R|BRWD3_uc004edp.2_Missense_Mutation_p.P994R|BRWD3_uc004edq.2_Missense_Mutation_p.P761R|BRWD3_uc010nmj.1_Missense_Mutation_p.P761R|BRWD3_uc004edr.2_Missense_Mutation_p.P835R|BRWD3_uc004eds.2_Missense_Mutation_p.P761R|BRWD3_uc004edu.2_Missense_Mutation_p.P835R|BRWD3_uc004edv.2_Missense_Mutation_p.P761R|BRWD3_uc004edw.2_Missense_Mutation_p.P761R|BRWD3_uc004edx.2_Missense_Mutation_p.P761R|BRWD3_uc004edy.2_Missense_Mutation_p.P761R|BRWD3_uc004edz.2_Missense_Mutation_p.P835R|BRWD3_uc004eea.2_Missense_Mutation_p.P835R|BRWD3_uc004eeb.2_Missense_Mutation_p.P761R	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1165	Bromo 1.									ovary(4)	4						AACAGCAAAAGGGCTGGCAAA	0.373		NA											14	30					0	0	0	0
SLC25A43	203427	broad.mit.edu	37	X	118586008	118586008	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:118586008G>C	uc004erd.2	+	4	1071	c.727G>C	c.(727-729)GAT>CAT	p.D243H	SLC25A43_uc004erc.1_RNA|SLC25A43_uc011mtt.1_Missense_Mutation_p.R185T	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	243	Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1						TGGAGGAGTAGATGTCCATTT	0.512		NA											32	112					0	0	0	0
F9	2158	broad.mit.edu	37	X	138612944	138612944	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:138612944C>G	uc004fas.1	+	1	50	c.21C>G	c.(19-21)ATC>ATG	p.I7M	F9_uc004fat.1_Missense_Mutation_p.I7M	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	7			I -> F.		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGAACATGATCATGGCAGAAT	0.413		NA											13	144					0	0	0	0
AFF2	2334	broad.mit.edu	37	X	148037550	148037550	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:148037550G>C	uc004fcp.2	+	11	2454	c.1975G>C	c.(1975-1977)GAA>CAA	p.E659Q	AFF2_uc004fcq.2_Missense_Mutation_p.E649Q|AFF2_uc004fcr.2_Missense_Mutation_p.E620Q|AFF2_uc011mxb.1_Missense_Mutation_p.E624Q|AFF2_uc004fcs.2_Missense_Mutation_p.E626Q|AFF2_uc011mxc.1_Missense_Mutation_p.E300Q	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	659					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGAAAAAGAAAGTGTGGA	0.483		NA											39	159					0	0	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797305	148797305	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:148797305G>T	uc004fdq.2	+	4	336	c.234G>T	c.(232-234)AGG>AGT	p.R78S	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.R49S	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	78						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGTCCCAGGAGAACCCAGA	0.502		NA											31	124					2e-19	2.77e-19	1	0
PNMA5	114824	broad.mit.edu	37	X	152159807	152159807	+	Silent	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:152159807A>G	uc010ntw.2	-	3	675	c.336T>C	c.(334-336)GAT>GAC	p.D112D	PNMA5_uc004fha.3_Silent_p.D112D|PNMA5_uc010ntx.2_Silent_p.D112D|PNMA5_uc004fgy.3_Silent_p.D112D	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	112					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					ttcggccctcatctttcagga	0.09		NA											46	241					0	0	0	0
LAGE3	8270	broad.mit.edu	37	X	153706741	153706741	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:153706741G>A	uc004fln.1	-	2	540	c.198C>T	c.(196-198)AGC>AGT	p.S66S		NM_006014	NP_006005	Q14657	LAGE3_HUMAN	L antigen family, member 3	66							protein binding				0	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAAAGGCACGCTGAGGGTGC	0.602		NA											24	110					0	0	0	0
COPZ1	22818	broad.mit.edu	37	12	54718955	54718956	+	In_Frame_Ins	INS	-	-	GCG			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:54718955_54718956insGCG	uc001sfs.1	+	1	45_46	c.8_9insGCG	c.(7-9)GCG>GCGCGG	p.3_4insR	COPZ1_uc001sft.2_5'UTR|COPZ1_uc009znm.1_5'UTR|COPZ1_uc010sot.1_In_Frame_Ins_p.3_4insR	NM_016057	NP_057141	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	3_4					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol					0						AAGATGGAGGCGCTGATTTTGG	0.619		NA									OREG0021891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	4	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7578267	7578267	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:7578267delA	uc002gim.2	-	6	776	c.582delT	c.(580-582)CTTfs	p.L194fs	TP53_uc002gig.1_Frame_Shift_Del_p.L194fs|TP53_uc002gih.2_Frame_Shift_Del_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.L62fs|TP53_uc010cng.1_Frame_Shift_Del_p.L62fs|TP53_uc002gii.1_Frame_Shift_Del_p.L62fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L194fs|TP53_uc010cni.1_Frame_Shift_Del_p.L194fs|TP53_uc002gij.2_Frame_Shift_Del_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.L101fs|TP53_uc002gio.2_Frame_Shift_Del_p.L62fs|TP53_uc010vug.1_Frame_Shift_Del_p.L155fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	194	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> V (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.L194R(31)|p.L194F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.L194fs*15(2)|p.K164_P219del(1)|p.I195fs*14(1)|p.L194fs*52(1)|p.L194V(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.L194I(1)|p.I195fs*12(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)		CCACTCGGATAAGATGCTGAG	0.552		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)			9	33	---	---	---	---	NA	NA	NA	NA
IL1R2	7850	broad.mit.edu	37	2	102638648	102638649	+	Splice_Site	INS	-	-	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:102638648_102638649insA	uc002tbm.2	+	6	918	c.689_splice	c.e6-1	p.K230_splice	IL1R2_uc002tbn.2_Splice_Site_p.K230_splice|IL1R2_uc002tbo.1_Splice_Site_p.K230_splice	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor						immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	ATCTTTCTCAGAAAAAAAAGAA	0.441		NA											7	218	---	---	---	---	NA	NA	NA	NA
FAT1	2195	broad.mit.edu	37	4	187540720	187540742	+	Frame_Shift_Del	DEL	GCCAGTGCTGCTGTCTACATGAA	GCCAGTGCTGCTGTCTACATGAA	-			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:187540720_187540742delGCCAGTGCTGCTGTCTACATGAA	uc003izf.2	-	10	7186_7208	c.6998_7020delTTCATGTAGACAGCAGCACTGGC	c.(6997-7020)TTTCATGTAGACAGCAGCACTGGCfs	p.F2333fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2333_2340	Extracellular (Potential).|Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GTGAGATGAGGCCAGTGCTGCTGTCTACATGAAAATGATCATG	0.48		NA								HNSCC(5;0.00058)			8	154	---	---	---	---	NA	NA	NA	NA
AKAP7	9465	broad.mit.edu	37	6	131540807	131540807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:131540807delA	uc003qck.2	+	7	742	c.709delA	c.(709-711)AAAfs	p.K237fs	AKAP7_uc011ebz.1_Frame_Shift_Del_p.K215fs|AKAP7_uc003qcl.1_Frame_Shift_Del_p.K118fs	NM_016377	NP_057461	O43687	AKA7A_HUMAN	A-kinase anchor protein 7 isoform gamma	Error:Variant_position_missing_in_O43687_after_alignment					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			ovary(2)	2	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		CAAGGGAGTGAAAAAAATAGA	0.308		NA											7	34	---	---	---	---	NA	NA	NA	NA